Academic literature on the topic 'Neoplasms, Multiple Primary'
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Journal articles on the topic "Neoplasms, Multiple Primary"
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Rose, Peter G., Edward E. Herterick, John G. Boutselis, Melvin Moeshberger, and Larry Sachs. "Multiple primary gynecologic neoplasms." American Journal of Obstetrics and Gynecology 157, no. 2 (1987): 261–67. http://dx.doi.org/10.1016/s0002-9378(87)80148-5.
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Demandante, Carlo Greg N., Dean A. Troyer, and Toni P. Miles. "Multiple Primary Malignant Neoplasms." American Journal of Clinical Oncology 26, no. 1 (2003): 79–83. http://dx.doi.org/10.1097/00000421-200302000-00015.
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Lino, J., M. Alves, A. Silva, et al. "Patient with multiple primary neoplasms." European Journal of Internal Medicine 24 (October 2013): e149-e150. http://dx.doi.org/10.1016/j.ejim.2013.08.386.
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Amalinei, Cornelia, Raluca Balan, Luminita Ivan, Razvan Socolov, Demetra Socolov, and Coriolan Cotutiu. "Multiple primary malignant neoplasms — case report." Open Medicine 1, no. 1 (2006): 87–98. http://dx.doi.org/10.2478/s11536-006-0004-0.
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AbstractThe synchronous occurence of primary carcinomas of endometrium and ovary is well recognized. Malignant peripheral nerve sheath tumours (MPNSTs) may also rarely occur in patients diagnosed with malignancies of the female genital tract. We report a rare case of synchronous primary carcinomas of endometrium and ovary, followed by a metachronous retroperitoneal MPNST. Ascites cytology and endometrial biopsy, followed by hysterectomy and bilateral adnexectomy, were performed to remove the synchronous tumors. Histology was suggestive of synchronous endometrial endometrioid carcinoma and ovarian mucinous adenocarcinoma. After the removal of the retroperitoneal tumor, a MPNST was diagnosed by immunohistochemistry. The patient developed two consecutive vaginal tumors diagnosed as metastases of the previously diagnosed endometrial carcinoma. Although synchronous tumors of endometrium and ovary were relatively early staged and consequently had a favorable prognosis, subsequently occuring implants along the lower genital tract and the metachronous MPNST added up to a poor prognosis.
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Sehgal, Shailley Arora, Parul Gupta, Anil Kumar Dhull, and Vivek Kaushal. "TAILORED APPROACH FOR MULTIPLE PRIMARY NEOPLASMS." Journal of Evidence Based Medicine and Healthcare 5, no. 47 (2018): 3293–96. http://dx.doi.org/10.18410/jebmh/2018/669.
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Sekowski, A., F. Ooko, D. du Plessis, J. Mphahlele, and I. Rozumyk. "SYNCHRONIC MULTIPLE PRIMARY NEOPLASMS IN WOMEN." Maturitas 63 (May 2009): S122. http://dx.doi.org/10.1016/s0378-5122(09)70490-6.
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Gin, Lauren, Brian Dinh, and Sangeeta Agrawal. "S1988 Trio of Multiple Primary Neoplasms." American Journal of Gastroenterology 115, no. 1 (2020): S1039. http://dx.doi.org/10.14309/01.ajg.0000710000.66483.19.
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Maddali, L. S., and S. Maddali. "Multiple primary neoplasms involving the breast." Journal of Clinical Oncology 24, no. 18_suppl (2006): 10786. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.10786.
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10786 Background: Multiple Primary Neoplasms (MPN) are being identified with increasing frequency in Breast cancer patients. We studied MPN involving Breast cancer as at least one primary for (1) incidence and (2) identifying. subsets with special features. Methods: 83 patients with MPN were identified among 3378 patients seen between January 1st 1999 and 31st December 2005. (2.15%). 40 of these had Breast primary (48.19%). which form the basis of the present report. One or both primaries were identified during this period. But in some cases with primaries in remote past, available documentation was accepted. Results: Breast cancer was the Index cancer 31/40 (77.50%)and second primary in 9/40 (22.50%). Among the index cancers, 4/31 cases (12.90%) were synchronous and 27/31 (87.10%) were metachronous. 100% of the second primary in breast group were metachronous. Breast-Breast MPN 15/40 (37.50%) and Breast-Non breast MPN 25/40 (62.50%). Mean ages for Breast-Breast MPN 47.33 years, Synchronous tumors 38.66 yrs, metachronous tumors 58.20 yrs, Breast-Non Breast MPN 55.44 yrs. Mortality for Breast-Breast MPN as a group was 73.33%, synchronous tumors (2/3) 66.67%, metachronous tumors (10/12) 83.33%, Breast-Non Breast MPN, metachronous tumors (13/24) 54.17%. When the interval between index and second primary was studied, the Breast-Breast MPN mortality was (7/9) 77.78% for 2 yrs or less duration, (3/3) 100% for more than 2yrs. For Breast-NonBreast MPN, mortality was (6/9) 66.67% for duration of 2 yrs or less and (7/15) 46.67% for more than 2 yrs. The common malignancies associated in the index Breast cancer group were from Ovary (6),Thyroid (2),pancreas (2), Hematologic neoplasms (3) Upper Aero Digestive Tract (2). The second primary Breast cancer group had primaries in ovary (2), colon (2), hematologic (3) neoplasms. Conclusions: Breast-Breast MPN are seen in younger patients with higher mortality than Breast-Non Breast MPN. In the Breast-Non Breast MPN group, longer interval between the primaries is associated with lower mortality. There were no major differences between the Index Breast cancer group and Breast Second Primary group. Mortality appeared to be determined by the nature of the Non Breast Primary. No significant financial relationships to disclose.
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Siddiqua, Dibanur Rashid, Shamim Ahmed, Rajashish Chakrabortty, and Mohammed Atiqur Rahman. "Multiple primary malignancies." Bangabandhu Sheikh Mujib Medical University Journal 10, no. 4 (2017): 260. http://dx.doi.org/10.3329/bsmmuj.v10i4.34863.
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<p>Two cases of multiple primary malignancies (two or more neoplasms without any relationship between them) are presented in this paper. The first case (65 years) was a male in whom follicular carcinoma of thyroid, metachronous neuroendocrine tumor of duodenum and urinary bladder transitional cell carcinoma were diagnosed within an eight-year period. The second case (65 years) was a female with synchronous dual malignancy of lung and urinary bladder diagnosed within a very short period of time.</p>
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Koyama, Kojiro, Yoji Furukawa, and Hiroyoshi Tanaka. "Multiple Primary Malignant Neoplasms in Urologic Patients." Scandinavian Journal of Urology and Nephrology 29, no. 4 (1995): 483–90. http://dx.doi.org/10.3109/00365599509180031.
Full textDissertations / Theses on the topic "Neoplasms, Multiple Primary"
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Villablanca, Andrea. "Genetic background of familial primary hyperparathyroidism /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-520-4/.
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Hartman, Mikael. "Risk and prognosis of breast cancer among women at high risk of the disease /." Stockholm : Karolinska institutet, 2007. http://diss.kib.ki.se/2007/978-91-7357-303-0/.
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Priante, Antonio Vitor Martins. "A importância da tríplice endoscopia no diagnóstico de neoplasias primárias múltiplas em pacientes com carcinoma epidermóide de vias aerodigestivas superiores." Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/5/5155/tde-20042010-095730/.
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INTRODUÇÃO: Pacientes com carcinomas das vias aerodigestivas superiores (VADS) apresentam um alto risco de desenvolver outros cânceres tanto simultaneamente quanto subsequentemente. A maioria destes tumores ocorre nas VADS, pulmões ou esôfago. A tríplice endoscopia (laringoscopia, endoscopia digestiva alta e broncoscopia) possibilita o diagnostico de lesões precursoras e de tumores invasivos. No entanto, a maioria dos estudos limita-se a descrever a frequência de diagnósticos, mas não os resultados do tratamento e o impacto na sobrevida. OBJETIVOS: Avaliar a importância da tríplice endoscopia para o diagnóstico de neoplasias primárias múltiplas e as diferenças no estadiamento e nas taxas de sobrevida de pacientes com carcinoma epidermóide de VADS. Caracterizar o perfil e analisar fatores de risco para neoplasias primárias múltiplas. MÉTODOS: Trata-se de estudo caso-controle retrospectivo em que foram incluídos pacientes com carcinoma epidermóide de VADS, submetidos à tríplice endoscopia antes do início do tratamento (grupo tríplice endoscopia), pareados, por sexo, idade e localização, estádio clínico e tratamento do tumor primário, com pacientes não submetidos à tríplice endoscopia na avaliação inicial (grupo controle). RESULTADOS: Foram incluídos 135 pacientes em cada grupo. No grupo tríplice endoscopia ocorreram mais diagnósticos de segundo tumor primário (STP), 34 (17 simultâneos e 17 metacrônicos), do que no grupo controle, 20 (1 simultâneo e 19 metacrônicos). Não foi identificada diferença significativa entre o estadiamento dos tumores de grupo tríplice endoscopia e do grupo controle. As curvas de sobrevida global, específica por câncer, livre de doença e pós-STP foram semelhantes nos dois grupos. A sobrevida livre de STP foi maior no grupo controle. Na análise multivariada foram identificados como fatores prognósticos independentes para a sobrevida, o sexo (feminino, RR 0,51, IC 0,30 0,88), a idade (maior que 57 anos, RR 1,73, IC 1,29 2,31), a localização do tumor primário (laringe, RR 0,60, IC 0,39 0,93), o estádio N (N2 e N3, RR 1,78, IC 1,26 2,51) e o estádio clínico do tumor primário (III e IV, RR 2,75, IC 1,69 4,46). As variáveis independentes relacionadas ao diagnóstico e à ocorrência de STP foram a realização de tríplice endoscopia (RR 1,93; IC 95% 1,02 - 3,65), o tipo de tratamento do tumor primário (cirurgia exclusiva, RR 3,14; IC 95% 1,11 - 8,85) e o tempo de seguimento (maior que 24 meses, RR 3,69; IC 95% 1,19 - 11,47). CONCLUSÃO: Não ocorreu diferença no estádio clínico dos STP e nas sobrevidas global, específica por câncer, livre de doença e pós-STP entre o grupo tríplice endoscopia e o grupo controle. Foram identificados como fatores independentes relacionados ao diagnóstico e a ocorrência de STP o tratamento realizado (cirurgia exclusiva), o tempo de seguimento (maior que 24 meses) e a realização da tríplice endoscopia.<br>INTRODUCTION: Patients with upper aerodigestive tract (UADT) carcinomas have a high risk of developing others cancers simultaneously or subsequently. Most of these tumors occur in UADT, lungs or esophagus. Triple endoscopy (laryngoscopy, endoscopy and bronchoscopy) enables the diagnosis of premalignant and invasive tumors. However, most of the studies describe only the frequency of the diagnosis, but not the results of treatment and its impact on survival. OBJECTIVES: To evaluate the importance of triple endoscopy for the diagnosis of multiple primary tumors and the differences in clinical stage and survival rates of patients with squamous cell carcinoma of the UADT. To characterize and to analyze the risk factors for multiple primary tumors. METHODS: This is a case-control study that included patients with squamous cell carcinoma of the UADT, that were submitted to a triple endoscopy before the first treatment (triple endoscopy group), matched by sex, age and location, clinical stage and treatment of primary tumor, with patients not undergoing triple endoscopy in the initial evaluation (control group). RESULTS: One hundred and thirty five patients were included in each group. The diagnosis of second primary tumor (SPT) was more frequent in the triple endoscopy group than in the control group, 34 (17 simultaneous and 17 metachronous) and 20 cases (1 simultaneous and 19 metachronous), respectively. No significant difference was found between the clinical stage of triple endoscopy group and the control group. The curves of overall survival, cancer specific, disease-free and after SPT were similar in both groups. The SPT free survival was higher in the control group. In the multivariate analysis were identified as independent prognostic factors for survival, sex (women, RR 0.51, CI 0.30 - 0.88), age (older than 57 years, RR 1.73, CI 1.29 - 2.31), the primary tumor site (larynx, RR 0.60, CI 0.39 - 0.93), N stage (N2 and N3, RR 1.78, CI 1.26 - 2.51) and the clinical stage of primary tumor (III and IV, RR 2.75, CI 1.69 - 4.46). The independent variables related to the diagnosis and the occurrence of SPT were triple endoscopy (RR 1.93, 95% CI 1.02 - 3.65), the primary tumor treatment (surgery alone, RR 3.14, 95% CI 1.11 - 8.85) and follow-up (greater than 24 months, RR 3.69, 95% CI 1.19 - 11.47). CONCLUSION: There was no difference in the clinical stage of the SPT and overall survival, cancer specific, disease-free and post SPT between the triple endoscopy group and control group. As independent predictors for the diagnosis and the occurrence of SPT were treatment performed (just surgery), follow-up time (greater than 24 months) and triple endoscopy.
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Jorge, Uana Maria Miguel. "Tumores gástricos primários múltiplos e únicos: análise imunohistoquímica comparativa." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/5/5154/tde-29012007-154954/.
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Introdução: Adenocarcinomas gástricos múltiplos primários (AGMP) são encontrados em 3,5% a 10% de todos os pacientes com câncer gástrico. A multiplicidade tumoral é amplamente reconhecida como indicador de predisposição genética para o desenvolvimento de neoplasias Além disso, as rotas de carcinogênese não estão claramente definidas nestes tumores (rota mutadora, ou supressora, ou da E-caderina). Objetivo: avaliar a imunoexpressão de hMLH1, hMSH2, e hMSH6 (rota mutadora), p53 (rota supressora) e E-caderina nos AGMP comparando-se com adenocarcinomas únicos (pareados quanto ao sexo, idade, tipo histológico, localização e estádio) e sua relação com dados clínico-patológicos. Casuística: dezenove pacientes com AGMP foram comparados a 21 pacientes com tumores gástricos únicos quanto a características imunohistoquímicas. Métodos: Blocos de tecido fixados em formalina a 10% e incluídos em parafina foram submetidos a cortes histológicos de 4 mm, para as avaliações histológica e imunohistoquímica para hMLH1, hMSH2, hMSH6, p53 e E-caderina. Resultados: A média de idade dos pacientes com AGPM foi de 66 + 9,06 anos, e de 60 + 16,9 anos nos pacientes com tumor único (P=0,56). Vinte e dois tumores estavam localizados na porção distal do estômago; 14, no corpo e cinco na porção proximal. Em 14 pacientes, as lesões eram próximas (< 3 cm), enquanto que, em cinco pacientes, as lesões estavam em outra porção do estômago. O estágio final anatomopatológico pós-operatório foi: 15 no estágio T1 (37,5%) (8 múltiplos e 7 únicos), 7 no estágio T2 (17,5%) (1 múltiplo e 6 únicos), 17 no estágio T3 (42,5%) (9 múltiplos e 8 únicos) e 1 no estágio T4 (27,5%) (1 múltiplo). Segundo a classificação de Laurén, 45 dos tumores foram do tipo intestinal (29 múltiplos e 16 únicos), 16 do tipo gástrico (12 múltiplos e 4 únicos) e um tumor do tipo misto (1 único). O estádio anatomopatológico revelou 30 tumores avançados (16 múltiplos e 14 únicos) e 32 precoces (25 múltiplos e 7 únicos). Na imunohistoquímica, não houve diferença entre a imunoexpressão nos dois grupos de tumores quanto a: hMLH1 (24,3% vs. 19% P=0,64), hMSH6 (4,8% vs. 2,4%, P=0,68), p53 (39% vs. 24%, P=0,35) e E-caderina (27% vs. 19%, P=0,46). hMSH2 foi positivo em todos os casos. Não houve associação entre os imuno-marcadores e os dados clínico-patológicos. Conclusões: 1. As rotas de carcinogênese, mutatora, supressora e E-caderina parecem estar independentemente envolvidas no desenvolvimento dos AGMP; 2. Não houve diferença de imunoexpressão dos marcadores analisados quando compararam-se os AGMP e os tumores únicos.<br>Introduction: Multiple primary gastric adenocarcinomas (MPGA) have been reported from 3.5% to 10% of all patients with gastric cancer. Tumoral multiplicity is largely known as an indicator of genetic predisposition for the development of neoplasias. Moreover, the route of carcinogenesis has not been clearly clarified in these tumors (mutator pathway or suppressor pathway). Aim: to evaluate the immunoexpression of hMLH1, hMSH2, and hMSH6 (mutator pathway), p53 (suppressor pathway) and E-cadherin in the MPGA, comparing to solitary adenocarcinomas (similar gender, age, histological type, location and staging) and also the relation to the clinicopathological data.: Casuistics: Nineteen patients (Group 1) with MPGA were compared to 21 patients (Group 2) with solitary gastric tumors regarding clinicopathological characteristics and immunohistochemistry. Methods: Blocks of tissue fixed in 10% formalin and embedded in parafin were submitted to 4 mm sections for histological and immunohistochemistry analysis for hMLH1, hMSH2 and hMSH6 (mutator pathway), p53 (suppressor pathway) and E-cadherin. Results: The mean age for the MPGA was 66.8 + 9.06 years, and 59.0 + 16.9 years for the solitary tumor group(P = 0.27). Twenty-two tumors were in the distal stomach, 14 were in the body and five in the proximal portion. In 14 patients the lesions were close to each other (< 3 cm), while in five patients the neoplasias were distant, in another portion of the stomach.The final postoperative pathological stage was: T1 in 15 (eight multiple and seven solitary), T2 in seven (one multiple and six soliatry), T3 in 17 ( nine multiple and eight solitary) and T4 in one ( one multiple). According to the Laurén classification, 45 tumors were intestinal type (29 multiple and 16 solitary), 16 were diffuse (12 multiple and four solitart) and one mixed type ( one solitary). 30 tumors were diagnosed in advanced staging (16 multiple and 14 soliatry) and 32 were early (25 multiple and seven solitary). There was no difference between the hMLH1 immunoexpression in the two groups (24.3% vs. 19%, P=0.64), hMSH6 (4.8% vs. 2.4%, P=0.68), p53 (39% vs. 24%, P=0.35) and E-cadherin (27% v.s 19%, P=0.46). Immunostaining for hMSH2 was positive in all MPGA, indicating absence of alterations of this repair gene marker. There was no association between the immunomarkers and the clinicopathological data. Conclusions: 1. Routes of carcinogenesis, mutator, suppressor, and E-cadherin appear to be involved independently in the development of MPGA; 2. There was no difference in the markers immunoexpression in the two groups.
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Vierimaa, O. (Outi). "Multiple Endocrine Neoplasia Type 1 (MEN1) and Pituitary Adenoma Predisposition (PAP) in Northern Finland." Doctoral thesis, University of Oulu, 2008. http://urn.fi/urn:isbn:9789514288227.
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Abstract
Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome characterized by parathyroid, gastroenteropancreatic and pituitary neuroendocrine tumours. In Northern Finland, two founder mutations of the MEN1 gene (1466del12, 1657insC) accounting for the majority of the MEN1 cases, have common ancestors born in the 18th and 19th centuries, respectively. Three small clusters of familial pituitary adenoma have also been detected, two of which could be linked by genealogy to a common ancestral couple born in the 18th century.
Clinical evaluation of 82 MEN1 mutation carriers showed that age was a risk factor for most of the MEN1-related manifestations. In the whole group, nonfunctional pancreatic tumour (NFPT) was more common in the frameshift/nonsense mutation carriers (odds ratio 3.26; 95% confidence interval 1.27–8.33, P = 0.014), whereas gastrinoma was more common in the in-frame/missense mutation carriers (OR 6.77, CI 1.31–35.0, P = 0.022). In the founder mutation carriers, the 1657insC mutation predicted the risk for NFPT (OR 3.56, CI 1.29–9.83, P = 0.015), while the 1466del12 mutation was associated with the risk for gastrinoma (OR 15.1, CI 1.73–131.9, P = 0.014).
The mean ages at death of the 32 obligatory MEN1 founder mutation carriers born between 1728 and 1929 were compared to those of the 29 spouses and sex-matched life expectancy estimates derived from Finnish national statistics. The ages at death of the mutation carrier males (61.1 ± 12.0 years) and females (67.2 ± 10.7 years) did not differ from the control groups.
PAP (pituitary adenoma predisposition) locus was mapped in the chromosome region 11q12–11q13 by whole-genome single-nucleotide polymorphism genotyping. Combining the linkage and the gene expression array data, AIP (aryl hydrocarbon receptor interacting protein) was chosen for sequencing. The nonsense mutation Q14X was identified in the affected (acromegaly, gigantism, prolactinoma) family members and in four other patients. Loss of heterozygosity was detected in pituitary adenomas of AIP mutation carriers.
Mutation analysis of MEN1, HRPT2 (hyperparathyroidism 2), CASR (calcium-sensing receptor), CDKN1B (cyclin-dependent kinase inhibitor 1B) and AIP genes was performed in primary hyperparathyroidism patients with features of inherited predisposition. One out of 29 patients was found to have the 1466del12 mutation, while no mutations were detected in other genes.
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BRICOUT, SOPHIE. "Association hyperparathyroidie primaire et neoplasie endocrinienne multiple : a propos d'un cas ; revue de la litterature." Lyon 1, 1992. http://www.theses.fr/1992LYO1M338.
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Sekiya, Tomoko. "Análise do gene CDKN1B/p27kip1 em pacientes com neoplasia endócrina múltipla tipo 2." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-26022014-112355/.
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INTRODUÇÃO: Na Neoplasia Endócrina Múltipla tipo 2 (NEM2), o desenvolvimento do Carcinoma Medular de Tireoide (CMT), Feocromocitoma (FEO) e Hiperparatireoidismo primário (HPT) está associado à mutações germinativas ativadoras no proto-oncogene RET. Casos de CMT esporádico podem apresentar mutações somáticas no RET (~40%). A variabilidade fenotípica observada em casos de CMT e FEO familiais associados à NEM2 indica o envolvimento de eventos genéticos adicionais que seriam responsáveis pelas diferenças clínicas observadas nos indivíduos afetados (idade de desenvolvimento, progressão e agressividade do tumor). Outras alterações genéticas no RET como duplas mutações, SNPs e haplótipos específicos podem influenciar na susceptibilidade, agressividade e modulação do fenótipo NEM2. Entretanto, os estudos de outros genes envolvidos no processo da tumorigênese NEM2 ainda estão em andamento. Recentemente foi mostrado que RET ativado controla a expressão de proteínas inibidoras do ciclo celular (p18 e p27). Mutações germinativas no gene p27 foram recentemente associadas à susceptibilidade de tumores neuroendócrinos e estão associadas à síndrome NEM4 (Neoplasia endócrina múltipla tipo 4). Mutações somáticas, inativadoras de p27, são raramente encontradas em vários tipos de tumores. Entretanto, diversos estudos documentaram que a redução na expressão e a sublocalização citoplamática de p27 são controladas por alterações pós-transducionais e/ou epigenéticas. OBJETIVOS: o estudo teve como objetivos avaliar a participação de genes, recentemente associados ao RET ativado, em tumores de pacientes com NEM2 e também verificar se polimorfismos no gene p27 estariam atuando como moduladores de fenótipo em uma grande família com NEM2. CASUÍTICA: foram analisadas 66 amostras tumorais advindas de 36 pacientes com diagnóstico clínico e genético de NEM2 e 28 indivíduos pertencentes a uma grande família com NEM2A-CMTF e mutação C620R no gene RET. MÉTODOS: As análises somáticas do p27 e também de p15, p18 e RET foram realizadas por PCR e sequenciamento direto de DNA e análise de microssatélites para p27 foi realizada por PCR e eletroforese capilar. Análises de expressão e localização da proteína p27 celular foram realizadas por Western blot e imunohistoquímica. A análise da modulação de fenótipo na família com NEM2A foi realizada por meio da amplificação do éxon 1 do gene p27 na amostra de sangue total. RESULTADOS: Não foram encontradas mutações somáticas no gene p27 e também nos genes p15 e p18. Entretanto, verificamos baixa expressão proteica de p27 em tumores CMT e FEO, a qual se encontrava relacionada com o tipo e agressividade do códon mutado no RET, principalmente em tumores que apresentavam mutação RET no códon 634 (controle x 634 p=0,05; controle x 634/791 p= 0,032; 620 x 634 p=0,045; 620 x 634/791 p= 0,002; 620 x 634 + 634/791 p=0,036). Notou-se também correlação positiva entre os níveis de expressão de p27 na localização nuclear, analisada por imunohistoquímica, e o genótipo TT do SNP p27 p.V109G (p=0,03). CONCLUSÕES: Alterações moleculares somáticas no gene p27 nos tumores NEM2 não são frequentes. Entretanto, a redução na expressão e a localização citoplasmática de p27 provavelmente estão associadas a alterações somáticas em outros genes que controlam os processos de fosforilação da proteína p27 (eventos pós-transducionais)<br>INTRODUCTION: In Multiple Endocrine Neoplasia type 2 (MEN2) the development of medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO) and primary hyperparathyroidism (HPT) are associated with activating germline mutations in RET proto-oncogene. Cases of sporadic MTC may have somatic RET mutations (~ 40%). The phenotypic variability observed in cases with familial MTC/MEN2 and PHEO/MEN2 indicates the probable involvement of additional genetic events that could be responsible for the clinical differences observed in the affected individuals (age development, progression and aggressiveness of the tumor). Other genetic alterations such as RET double mutations, SNPs and specific haplotypes may influence susceptibility, aggressiveness and MEN2 phenotype modulation. However, studies of other genes involved in the tumorigenesis of MEN2 are still in progress. Recently, it was shown that the activated RET controls the expression of cell cycle inhibitory proteins (p18 and p27). Germline mutations in the p27 gene have recently been associated with the susceptibility to neuroendocrine tumors and are associated with the MEN4 syndrome (Multiple endocrine neoplasia type 4). Somatic inactivating mutations p27 are rarely found in many types of tumors. However, several studies have documented that reduced expression and subcellular location of p27 is controlled by post-transductional changes and/or epigenetic factors. OBJECTIVES: This study aimed to evaluate the role of genes recently associated with RET activated in tumors from MEN2 patients and also check whether polymorphisms in the p27 gene would be acting as modulators of phenotype in a large MEN2 family. PATIENTS: We analyzed 66 tumor samples from 36 patients with clinical and genetic diagnosis of MEN2 and from 28 individuals belonging to a large family with FMTC/MEN2A and RET C620R mutation. METHODS: The analyses of somatic p27, p15, p18 and RET were performed by PCR and direct sequencing of DNA and microsatellite analysis was performed for p27 by PCR and capillary electrophoresis. Expression analysis and subcellular localization of p27 protein were performed by Western blot and immunohistochemistry. The analysis of phenotype modulation in MEN2A families was performed by the amplification of exon 1 of the p27 gene in a whole blood sample. RESULTS: There were no somatic mutations in the p27 gene and also in the p15 and p18 genes. However, we verified a low p27 protein expression in MTC/MEN2 and PHEO/MEN2 that showed a definite correlation with the type and aggressiveness of the mutated RET codon, mainly in those tumors from cases with germline RET codon 634 mutations (control vs 634, p=0,05; control vs 634/791, p= 0,032; 620 vs 634, p=0,045; 620 vs 634/791, p= 0,002; 620 vs 634 + 634/791, p=0,036). It was also verified a positive correlation between the immunohistochemistry expression of nuclear p27 subcellular location and the p27 p.V109G TT genotype (p=0,03). CONCLUSIONS: The reduction in the expression of p27 and its subcellular localization are likely to be associated with somatic changes in other genes that control the processes of phosphorylation of p27 protein through post-transductional events
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Coutinho, Flavia Lima. "Avaliação da densidade mineral óssea em pacientes com hiperparatireoidismo primário hereditário associado à neoplasia endócrina múltipla tipo 1, antes e após paratireoidectomia." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-16062009-171933/.
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INTRODUÇÃO: Hiperparatireoidismo primário (HPT) é uma doença endócrina relativamente comum, caracterizada por hipercalcemia associada a concentrações de PTH elevadas ou inapropriadamente normais. A maioria dos pacientes (90%-95%) apresenta a forma esporádica da doença, enquanto a forma familiar pode ocorrer associada à neoplasia endócrina múltipla tipo 1 (NEM1) e tipo 2, HPT-tumor de mandíbula, HPT neonatal severo e HPT isolada familiar. HPT associado com NEM1 (HPT/NEM1) difere da forma esporádica em vários aspectos, entre eles: acometimento multiglandular das paratireóides (hiperplasia x adenoma); início da doença mais precoce (20 x 40 anos); afeta homens e mulheres em proporção semelhante (1:1), em contraste a 1:3 no HPT esporádico; diferentes tratamentos cirúrgicos (paratireoidectomia total ou subtotal x adenomectomia); maior taxa de recorrência após paratireoidectomia (PTx); e tende a ser menos agressivo que o HPT esporádico. No HPT esporádico, o perfil da perda mineral óssea e o impacto do tratamento cirúrgico na densidade mineral óssea (DMO) estão bem definidos. Por outro lado, dados sobre perda óssea no HPT/NEM1 e sua potencial recuperação após PTx são escassamente relatados. O objetivo deste estudo é avaliar o perfil densitométrico e o impacto do tratamento cirúrgico na DMO em pacientes com HPT/NEM1. MÉTODOS: Neste estudo, avaliamos inicialmente 36 pacientes (18 homens e 18 mulheres) com diagnóstico de HPT/NEM1 (média de idade ao diagnóstico de HPT de 38,99 ± 14.46 anos, 20-74 anos). Estes pacientes pertenciam a oito famílias não relacionadas previamente caracterizadas clinicamente e portadoras de mutações germinativas MEN1. Avaliamos a DMO no terço proximal do rádio distal (1/3 RD), fêmur (colo do fêmur e fêmur total) e coluna lombar (L1-L4) destes 36 pacientes. A DMO foi medida pela densitometria óssea de dupla emissão com fonte de raios X (DXA) e os valores expressos em índice T, índice Z e em valores absolutos (g/cm2). Após esta avaliação da DMO, vinte e quatro pacientes foram submetidos à paratireoidectomia total seguida por auto-implante em antebraço não dominante. Em um grupo selecionado de 16 pacientes foi avaliada a densidade mineral óssea antes e após (período médio de 15 meses) o tratamento cirúrgico. RESULTADOS: Desmineralização óssea (osteoporose/osteopenia) foi observada no 1/3 RD (28/34, 79,4%); colo do fêmur (26/36, 72,7%) e na coluna lombar (25/36, 69,4%). Osteopenia foi principalmente observada no colo do fêmur (19/36, 52,8%), seguida pelo 1/3 RD (14/34, 41,2%) e coluna lombar (11/36, 30,5%). Osteoporose foi observada principalmente na coluna lombar (14/36, 38,9%) e 1/3 RD (14/34, 41,2%); enquanto no colo do fêmur (7/36, 19,4%) a prevalência foi menor . Valores médios de índice T estavam severamente reduzidos no 1/3 RD (- 2,46±1,436 DP), seguido pela coluna lombar (-2,05±1,539 DP). O colo do fêmur foi o menos afetado (-1,60±1,138 DP). Nos 16 pacientes submetidos ao tratamento cirúrgico, no período médio de 15 meses após PTx, a DMO (g/cm2) aumentou significativamente na coluna lombar de 0,843 para 0,909 g/cm2 (+ 8,4%; p=0,001). A DMO (g/cm2) no colo do fêmur também aumentou significativamente de 0,745 para 0,798 g/cm2 (+ 7,7%; p=0.0001). No 1/3 RD não houve modificação estatisticamente significante da DMO (0,627 ± 0,089 para 0,622 ± 0,075; p=0,76). CONCLUSÃO: Nossos dados demonstraram que o rádio distal é o sítio ósseo preferencial para desmineralização óssea e que a coluna lombar pode não estar relativamente protegida na HPT/MEN1, como descrito no HPT esporádico. Um aumento significante foi observado na coluna lombar e no colo do fêmur em pacientes com HPT/NEM1, em um período médio de 15 meses após paratireoidectomia; enquanto no terço proximal do radio distal, não houve melhora significativa durante este estudo<br>INTRODUTION: Primary hyperparathyroidism (HPT) is a relatively common endocrine disorder, which is characterized by hypercalcemia and elevated or inappropriately normal levels of PTH. Most patients (90-95%) present with the sporadic form of the disease, whereas familial cases may occur associated with multiple endocrine neoplasias type 1 (MEN1) and type 2, jaw tumours, as well as severe neonatal form and familial isolated HPT. HPT associated with MEN1 (HPT/MEN1) differs from sporadic primary HPT (s- HPT) in the following aspects: it presents as a multiglandular parathyroid neoplasia (hyperplasia vs adenoma); it has an earlier disease onset (20 vs. 40 years of age); there is a sex ratio of 1:1 in contrast to the 1:3 ratio for s- HPT; different surgical treatment (total or subtotal parathyroidectomy x adenomectomy); there are higher recurrence rates after a parathyroidectomy (PTx); and it frequently tends to be less aggressive than s-HPT. In s-HPT, the bone loss profile and the impact of parathyroid surgery are well defined. In contrast, data on bone losses in HPT/MEN1 and the potential bone recovery after PTx have been scarcely reported. The aim of this study is to evaluate the bone mineral status and the impact of surgical treatment on bone mineral density (BMD) in HPT/MEN1 patients. METHODS: We studied 36 cases (18 males and 18 females) diagnosed with HPT/MEN1 (average age at the HPT diagnosis of 38.9 ± 14.46 years; range, 20-74 years). These patients belonged to eight unrelated MEN1 families previously clinically characterized and harboring germline MEN1 mutations. We have assessed the values of BMD in the proximal one third distal radius (1/3 distal radius), femoral (femoral neck and total) and lumbar spine (L1-L4) of these 36 HPT/MEN1 cases. BMD values were measured by dual-energy X-ray absorptiometry and the values expressed in T, Z-score and in absolute values. After BMD analyses, twenty four out of them were submitted to total parathyroidectomy followed by autoimplant in the non-dominant forearm. BMD measurements were evaluated before and in a mean period of 15 months after surgery, in a subset of 16 patients. RESULTS: Bone demineralization (osteoporosis/osteopenia) was seen at the proximal third of distal radius (28/34, 79.4%); femoral neck (26/36, 72.7%) and in the lumbar spine (25/36, 69.4%). Osteopenia was mostly found in femoral neck (19/36, 52.8%), whereas 1/3 distal radius (14/34, 41.2%) and lumbar spine (11/36, 30.5%) were also represented. Osteoporosis was mostly marked at lumbar spine (14/36, 38.9%) and 1/3 DR (14/34, 41.2%), but femoral neck (7/36, 19.4%) was also affected. Mean T score values at the 1/3 DR were severely reduced (-2.46±1.436 SD), followed by lumbar spine (-2.05 ± 1.539 SD). The femoral neck was the least affected site (-1. 60 ± 1.138 SD). In the 16 cases submitted to surgical treatment, in a mean period of 15 months after PTX, BMD (g/cm2) significantly increased at the lumbar spine from 0.843 to 0.909 g/cm2 (+ 8.4%; p=0.001). Femoral neck BMD (g/cm2) also increased significantly from 0.745 to 0.798 g/cm2 (+ 7.7%; p=0.0001). In the proximal one third of distal radius, BMD (g/cm2) remained unchanged (baseline, 0.627 ± 0.089 to 0.622 ± 0.075; p=0.76). CONCLUSION: Our data confirmed distal radius as the preferential site of bone demineralization and that lumbar spine may not be relatively protected in HPT/MEN1, as related in the s-HPT. A significant increase in the BMD has been verified in the lumbar spine and femoral neck BMD in 16 patients with HPT/MEN1, in a mean period of 15 months after parathyroidectomy. However, the proximal one third of distal radius BMD did not present significant improvement during this study
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Damianse, Sabrina da Silva Pereira. "Frequência de neoplasia endócrina múltipla tipo 1 em pacientes portadores de adenomas hipofisários." Universidade Federal do Maranhão, 2016. http://tedebc.ufma.br:8080/jspui/handle/tede/1431.
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Previous issue date: 2016-07-15<br>The multiple endocrine neoplasia type 1 (MEN1) is a genetic syndrome with autosomal
dominant transmission, characterized by tumors of the parathyroid, anterior pituitary and
pancreas. Primary hyperparathyroidism is the most common clinical presentation in MEN1
and evaluation of patients with pituitary adenomas for the presence of hyperparathyroidism
could identify patients with this syndrome. The aim of this study was to identify the frequency
of MEN1 by serum calcium and parathyroid hormone measurement in patients with pituitary
adenomas followed at the Endocrinology Service of the Hospital Universitário da
Universidade Federal do Maranhão (HUUFMA). This is a descriptive study with data
collected from the patients' medical charts in june 2015 to may 2016. We evaluated 300
patients with pituitary adenoma subtypes (128 prolactinomas, 67 acromegaly, 22
corticotropinomas, 3 gonadotropinomas and 80 adenomas clinically nonfunctioning) finding a
frequency of 1.3% of MEN1 patients among patients with adenomas pituitary. Patients with
MEN1 were mostly female and the average age at diagnosis of pituitary adenoma was 42.7
years, ranging between 24 and 57 years old. Pituitary tumors of these patients were more
often macroadenoma and the predominant subtype was somatotropinoma. At initial diagnosis,
our patients had apparently sporadic pituitary lesions, however, or were confirmed with
MEN1 early because they already have signs and/or symptoms of hyperparathyroidism, or
have been diagnosed very late caused mild symptoms of parathyroid disease. Therefore,
screening measures serum calcium and PTH in patients with pituitary adenomas are
recommended, primarily, because these tests are necessary to identify the most common
disease in MEN1, primary hyperparathyroidism. The study contributed to the identification of
new patients with MEN 1 in those patients with pituitary adenomas with the benefit of early
diagnosis, appropriate therapeutic approach and genetic counseling in family forms.<br>A neoplasia endócrina múltipla tipo 1 (NEM1) é uma síndrome genética, com transmissão autossômica dominante, caracterizada por tumores da paratireóide, da hipófise anterior e do pâncreas. O hiperparatireoidismo primário é apresentação clínica mais frequente na NEM1 e a avaliação dos pacientes com diagnóstico de adenomas hipofisários quanto à presença de hiperparatireoidismo poderia identificar pacientes com esta síndrome. O objetivo deste estudo foi identificar a frequência de NEM1 a partir das dosagens séricas de cálcio e paratormônio em pacientes portadores de adenomas hipofisários acompanhados no Serviço de Endocrinologia do Hospital Universitário da Universidade Federal do Maranhão (HUUFMA). Trata-se de um estudo descritivo com dados coletados a partir dos prontuários de atendimento dos pacientes no período de junho de 2015 a maio de 2016. Foram avaliados 300 pacientes com diagnóstico de adenoma hipofisário de diferentes subtipos (128 prolactinomas, 67 acromegálicos, 22 corticotropinomas, 3 gonadotropinomas e 80 adenomas clinicamente não-funcionantes) encontrando-se uma frequência de 1,3% de pacientes NEM1 dentre os portadores de adenomas hipofisários. Os pacientes com NEM1 eram, em sua maioria, do sexo feminino e a média de idade ao diagnóstico da lesão hipofisária foi de 42,7 anos, variando entre 24 e 57 anos de idade. Os tumores hipofisários desses pacientes eram mais frequentemente macroadenomas e o subtipo predominante foi somatotropinoma. Ao diagnóstico inicial, dos pacientes eram, aparentemente, portadores de lesões pituitárias esporádicas, no entanto, ou foram confirmados precocemente com NEM1, pois já possuíam sinais e/ou sintomas relacionados ao hiperparatireoidismo, ou foram diagnosticados muito tardiamente devidos sintomas leves da doença paratireoidiana. Portanto, o rastreio com dosagens de cálcio e PTH séricos em pacientes portadores de adenomas hipofisários é recomendado, principalmente, por serem exames necessários para identificar a doença mais frequente na NEM1, o hiperparatireoidismo primário. O estudo contribuiu para identificação de novos pacientes com NEM 1, naqueles portadores de adenomas hipofisários com o benefício do diagnóstico precoce, abordagem terapêutica adequada e aconselhamento genético nas formas familiares.
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Marinho, Pedro André Vasconcelos. "Neoplasia de cabeça e pescoço: ocorrência de tumores primários múltiplos." Master's thesis, 2018. http://hdl.handle.net/10284/7615.
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Têm-se verificado um aumento na incidência de tumores primários múltiplos (TPM), estes caracterizam-se pela existência de dois ou mais tumores primários com origem numa dada região. A cancerização em campo é uma teoria que explica o aparecimento de TPM. Fatores de risco como álcool e tabaco estão relacionados com o desenvolvimento deste campo. Outros fatores como o Vírus do Papiloma Humano (HPV) podem também estar envolvidos na origem de TPM. O aparecimento de TPM é uma das principais causas de morte em pacientes com cancro de cabeça e pescoço (CCP), deste modo é essencial proceder ao seu diagnóstico precoce para obter um melhor prognóstico.<br>There has been an increase in the incidence of multiple primary tumors (PMS), these are characterized by the existence of two or more primary tumors originating in a given region. Field cancerization is a theory that explains the appearance of PMS. Risk factors such as alcohol and tobacco are related to the development of this field. Other factors such as Human Papilloma Virus (HPV) may also be involved in the origin of PMS. The appearance of PMS is of the leading causes of death in patients with head and neck cancer (CCP), so it is essential to make an early diagnosis to obtain a better prognosis.
Books on the topic "Neoplasms, Multiple Primary"
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Patrias, Karen. Diagnosis and management of asymptomatic primary hyperparathyroidism: January 1986 through September 1990, 1057 citations. U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine, Reference Section, 1990.
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Patrias, Karen. Diagnosis and management of asymptomatic primary hyperparathyroidism: January 1986 through September 1990 : 1057 citations. U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine, Reference Section ; Washington, D.C. : Sold by the Supt. of Docs., U.S. G.P.O., 1990.
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3
Dakubo, Gabriel D. Field cancerization: Basic science and clinical applications. Nova Science, 2011.
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4
I, Neugut Alfred, Meadows Anna T, and Robinson Eliezer, eds. Multiple primary cancers. Lippincott Williams & Wilkins, 1999.
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Moertel, Charles G. Multiple Primary Malignant Neoplasms: Their Incidence And Significance. Springer, 2012.
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Morton, Lindsay M., Sharon A. Savage, and Smita Bhatia. Multiple Primary Cancers. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0060.
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As prognosis following a cancer diagnosis has improved and survival has increased, so has the occurrence of multiple primary cancers diagnosed in the same individual. In the United States, one in five cancer diagnoses involves an individual with a previous history of cancer. These new primary cancer diagnoses, or “subsequent neoplasms” (SN), are a substantial cause of morbidity and mortality in cancer survivors. The risk of developing SN varies substantially depending on age, the type of initial primary cancer, chemotherapy, radiotherapy, genetic susceptibility, and exposure to other cancer risk factors. Childhood cancer survivors have particularly elevated SN risks associated with radiotherapy and, to a lesser extent, systemic therapy. Genetic susceptibility to cancer is also thought to play an important role in SN development after childhood cancer. Survivors of many adulthood cancers also have elevated SN risks, likely with a multifactorial etiology.
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Schoenberg, Bruce S. Multiple Primary Malignant Neoplasms: The Connecticut Experience, 1935-1964. Springer Berlin Heidelberg, 2011.
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de, Vries N., Gluckman J. L, and Boyle P, eds. Multiple primary tumors in the head and neck. G. Thieme, 1990.
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(Editor), Nico De Vries, and Jack L. Gluckman (Editor), eds. Multiple Primary Tumours in the Head and Neck. Thieme Publishing Group, 1990.
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Mirabello, Lisa, Rochelle E. Curtis, and Sharon A. Savage. Bone Cancers. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0042.
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Cancers arising from bone or cartilage account for about 0.2% of malignant neoplasms. They are histologically heterogeneous with multiple rare subtypes. Osteosarcoma and Ewing sarcoma occur primarily in children and young adults, whereas other bone cancers occur in older individuals. As a group, bone cancers have few known environmental risk factors, the exception being a strong association between therapeutic radiation and increased risk of osteosarcoma. The genetic etiology is also better understood in osteosarcoma, although there have been limited studies in other types of bone cancers. This chapter reviews the worldwide incidence of more common types of primary bone cancers, patterns in survival over time, and the associated environmental and genetic risk factors.
Book chapters on the topic "Neoplasms, Multiple Primary"
1
Kaiser, H. E. "Multiple Primary Neoplasms." In Influence of Tumor Development on the Host. Springer Netherlands, 1989. http://dx.doi.org/10.1007/978-94-009-2528-1_6.
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Kamakura, Mitsuhiro, Haruo Kondo, and Shaw Watanabe. "Multiple Primary Neoplasms: Comparison Between Japan and the U.S.A." In Etiology of Cancer in Man. Springer Netherlands, 1989. http://dx.doi.org/10.1007/978-94-009-2532-8_5.
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Watanabe, Shaw. "Multiple Primary Neoplasms: Role of Autopsy. Selected Sites, with Emphasis on Japan." In Influence of Tumor Development on the Host. Springer Netherlands, 1989. http://dx.doi.org/10.1007/978-94-009-2528-1_5.
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Lairmore, Terry C. "Subtotal Parathyroidectomy Versus Total Parathyroidectomy with Autotransplantation for Patients with Multiple Endocrine Neoplasia 1 and Primary Hyperparathyroidism." In Difficult Decisions in Endocrine Surgery. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-92860-9_15.
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Tham, Emma, and Catharina Larsson. "Hereditary primary hyperparathyroidism and multiple endocrine neoplasia." In Endocrinology in Clinical Practice. CRC Press, 2014. http://dx.doi.org/10.1201/b16712-9.
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Silverberg, Shonni J., and John P. Bilezikian. "Primary hyperparathyroidism." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.0419.
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Primary hyperparathyroidism is no longer the severe disorder of ‘stones, bones, and groans’ described by Fuller Albright and others in the 1930s (1,2). Osteitis fibrosa cystica, with its brown tumours of the long bones, subperiosteal bone resorption, distal tapering of the clavicles and phalanges, and ‘salt-and-pepper’ appearance of erosions of the skull on radiograph is rare, and kidney stones are seen in only 20% of patients. Asymptomatic disease is the rule in the vast majority of patients, with the diagnosis commonly following the finding of hypercalcaemia on routine serum chemistry analysis (Table 4.3.1) (3–5). Primary hyperparathyroidism is due to a solitary parathyroid adenoma in 80% of patients (5). Most cases are sporadic, although some are associated with a history of neck irradiation, or prolonged use of lithium therapy for bipolar disease (6, 7). Multiple parathyroid adenomas have been reported in 2 to 4% of cases (8). Parathyroid adenomas can be discovered in many unexpected anatomic locations, including within the thyroid gland, the superior mediastinum, and within the thymus. Occasionally, the adenoma may ultimately be identified in the retroesophageal space, the pharynx, the lateral neck, and even the alimentary submucosa of the oesophagus (9). In approximately 15% of patients with primary hyperparathyroidism, all four parathyroid glands are involved. There are no clinical features that differentiate single versus multiglandular disease. In nearly one-half of cases, four-gland disease is associated with a familial hereditary syndrome, such as multiple endocrine neoplasia 1 (MEN 1) or MEN 2a.
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Stan, Marius N. "Calcium and Bone Metabolism Disorders." In Mayo Clinic Internal Medicine Board Review. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190464868.003.0012.
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The causes of hypercalcemia are categorized as either parathyroid hormone (PTH) dependent or PTH independent. Primary hyperparathyroidism is the most common cause of hypercalcemia in ambulatory patients. A single parathyroid adenoma is the cause in 85% of patients, and multiglandular disease is the cause in the remainder. Parathyroid carcinoma is a rare cause of hypercalcemia. Primary hyperparathyroidism may be sporadic or familial. Familial hyperparathyroidism is usually multiglandular and most commonly a manifestation of multiple endocrine neoplasia (MEN) type 1 or type 2 syndromes.
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Lee, James A., and Sarah S. Pearlstein. "Advances in Diagnosis and Management of Primary Hyperparathyroidism due to Multiple Endocrine Neoplasia (MEN) Type 2 Syndrome." In Advances in Treatment and Management in Surgical Endocrinology. Elsevier, 2020. http://dx.doi.org/10.1016/b978-0-323-66195-9.00011-x.
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Lourenco, D. M. Jr, F. L. Coutinho, R. A. Toledo, F. L. M. Montenegro, J. E. M. Correia-Deur, and S. P. A. Toledo. "Early-Onset, Progressive, Frequent, Extensive and Severe Bone Mineral and Urolithiasis-Related Renal Complications in Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism." In The Endocrine Society's 92nd Annual Meeting, June 19–22, 2010 - San Diego. Endocrine Society, 2010. http://dx.doi.org/10.1210/endo-meetings.2010.part3.p2.p3-85.
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Stratakis, Constantine A. "Carney’s complex." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.0700.
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Carney’s complex (CNC) is an autosomal dominant disorder, which was described in 1985 as ‘the complex of myxomas, spotty pigmentation, and endocrine overactivity’ in 40 patients (1). Since then, more than 500 index cases have been reported, resulting in better definition of the disease and the establishment of diagnostic criteria (2, 3). As implied from the initial description, CNC is not only a multiple neoplasia syndrome, but also causes a variety of pigmented lesions of the skin and mucosae. (4) Several patients described in earlier years under the acronyms NAME (nevi, atrial myxomas, and ephelides) and LAMB (lentigines, atrial myxomas, and blue nevi) probably had CNC (5, 6). Thus, lentigines, blue nevi, café-au-lait spots, and cutaneous tumours, such as myxomas, fibromas, and others, are major features of the disease (4, 7–10). The clinical characteristics of CNC have been reviewed and are presented in Box 6.15.1 (2, 9). A definite diagnosis of CNC is given if two or more major manifestations are present (4, 9, 11, 12). A number of related manifestations may accompany or suggest the presence of CNC but are not considered diagnostic of the disease (Box 6.15.1). Cutaneous manifestations constitute three of the major disease manifestations: (1) spotty skin pigmentation with a typical distribution (lips, conjunctiva, and inner or outer canthi, genital mucosa); (2) cutaneous or mucosal myxoma; and (3) blue nevi (multiple) or epithelioid blue nevus. Suggestive or associated with CNC findings but not diagnostic are: (1) intense freckling (without darkly pigmented spots or typical distribution); (2) multiple blue nevi of common type; (3) café-au-lait spots or other ‘birthmarks’; and (4) multiple skin tags or other skin lesions, including lipomas and angiofibromas. The relationship between the cutaneous and noncutaneous manifestations of CNC appears to be an essential clue to the molecular aetiology of the disease. According to the latest reports, more than half of CNC patients present with both characteristic dermatological and endocrine signs; however, a significant number of patients present with skin lesions that are only ‘suggestive’ and not characteristic of CNC (9). A recent classification based on both dermatological and endocrine markers has subgrouped CNC patients as: multisymptomatic (with extensive endocrine and skin signs); intermediate (with few dermatological and endocrine manifestations); and, paucisymptomatic (with isolated primary pigmented nodular adrenocortical disease (PPNAD) alone and no cutaneous signs) (9).