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Literatura académica sobre el tema "HLRCC"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 25 de abril de 2022

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Artículos de revistas sobre el tema "HLRCC"

1

Skala, Stephanie L., Saravana M. Dhanasekaran y Rohit Mehra. "Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma". Archives of Pathology & Laboratory Medicine 142, n.º 10 (1 de octubre de 2018): 1202–15. http://dx.doi.org/10.5858/arpa.2018-0216-ra.

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Context.— Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an uncommon disorder with germline-inactivating mutations in the fumarate hydratase (FH) gene. The kidney cancers that develop in patients with HLRCC are often unilateral and solitary, with a potentially aggressive clinical course; morphologic identification of suspicious cases is of the utmost importance. Objective.— To review classic morphologic features of HLRCC-associated renal cell carcinoma, the reported morphologic spectrum of these tumors and their mimics, and the evidence for use of immunohistochemistry and molecular testing in diagnosis of these tumors. Data Sources.— University of Michigan cases and review of pertinent literature about HLRCC and the morphologic spectrum of HLRCC-associated renal cell carcinoma. Conclusions.— Histologic features, such as prominent nucleoli with perinucleolar halos and multiple architectural patterns within one tumor, are suggestive of HLRCC-associated renal cell carcinoma. However, the morphologic spectrum is broad. Appropriate use of FH immunohistochemistry and referral to genetic counseling is important for detection of this syndrome.
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Furuya, Mitsuko, Yasuhiro Iribe, Yoji Nagashima, Naotomo Kambe, Chisato Ohe, Hidefumi Kinoshita, Chika Sato et al. "Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas". Journal of Clinical Pathology 73, n.º 12 (6 de mayo de 2020): 819–25. http://dx.doi.org/10.1136/jclinpath-2020-206548.

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AimsHereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder caused by germline mutations in fumarate hydratase (FH). Affected families have an increased risk of renal cell carcinoma (RCC). HLRCC-associated RCC (HLRCC-RCC) is highly aggressive. Clinicopathological information of genetically diagnosed patients with HLRCC-RCC contributes to the establishment of effective therapies.MethodsTen Japanese patients with HLRCC-RCC were enrolled in the study. Genetic testing for FH was carried out. Somatic mutations in FH and immunohistochemical analyses of FH and B7 family ligands (PD-L1 and B7-H3) were investigated in 13 tumours. Copy number variations were evaluated in two tumours.ResultsAll patients had FH germline mutations. Regarding histology, most tumours had type 2 papillary architecture or tubulocystic pattern or both. All tumours were FH deficient by immunohistochemistry. Ten tumours were positive for PD-L1, and 12 tumours were positive for B7-H3. Somatic mutation analysis demonstrated loss of heterozygosity of FH in 10 tumours. Copy number variation analysis revealed uniparental disomy between 1q24.2 and 1q44 encompassing FH; gain of chromosome 2 p was also common. All patients had either metastases or residual tumours. Three patients died of HLRCC-RCC and one of colon cancer, whereas the other six are currently alive, including two without recurrence.ConclusionsHLRCC-RCCs appear to have unique molecular profiles, including PD-L1 expression. One patient had complete response to immunotherapy, which may be an option for HLRCC-RCC.
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Hol, J. A., M. C. J. Jongmans, A. S. Littooij, R. R. de Krijger, R. P. Kuiper, J. J. T. van Harssel, A. Mensenkamp et al. "Renal cell carcinoma in young FH mutation carriers: case series and review of the literature". Familial Cancer 19, n.º 1 (2 de diciembre de 2019): 55–63. http://dx.doi.org/10.1007/s10689-019-00155-3.

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AbstractHereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC), which is usually adult-onset. HLRCC-related RCC tends to be aggressive and can metastasize even when the primary tumor is small. Data on children and adolescents are scarce. Herein, we report two patients from unrelated Dutch families, with HLRCC-related RCC at the ages of 15 and 18 years, and a third patient with an FH mutation and complex renal cysts at the age of 13. Both RCC’s were localized and successfully resected, and careful MRI surveillance was initiated to monitor the renal cysts. One of the patients with RCC subsequently developed an ovarian Leydig cell tumor. A review of the literature identified 10 previously reported cases of HLRCC-related RCC in patients aged younger than 20 years, five of them presenting with metastatic disease. These data emphasize the importance of recognizing HLRCC in young patients to enable early detection of RCC, albeit rare. They support the recommendations from the 2014 consensus guideline, in which genetic testing for FH mutations, and renal MRI surveillance, is advised for HLRCC family members from the age of 8–10 years onwards.
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Yonese, Ichiro, Masaya Ito, Kosuke Takemura, Takao Kamai y Fumitaka Koga. "A Case of Metastatic Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome-Associated Renal Cell Carcinoma Treated with a Sequence of Axitinib and Nivolumab Following Cytoreductive Nephrectomy". Journal of Kidney Cancer and VHL 7, n.º 2 (20 de julio de 2020): 6–10. http://dx.doi.org/10.15586/jkcvhl.2020.148.

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Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) associated renal cell carcinoma (RCC) is an aggressive form of type 2 papillary RCC caused by deficiency of the fumarate hydratase gene. For patients with metastatic disease, no standard treatment has been established with dismal prognosis. We report a case of metastatic HLRCC-associated RCC in a 65-year-old Japanese male whose clinical features mimicked advanced renal pelvic cancer. A durable response was achieved with a sequence of axitinib and nivolumab after cytoreductive and diagnostic nephrectomy. Their potential therapeutic roles in the management of metastatic HLRCC-associated RCC have been discussed based on its molecular and biological backgrounds.
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Sudarshan, Sunil, Carole Sourbier, Hye-Sik Kong, Karen Block, Vladimir A. Valera Romero, Youfeng Yang, Cynthia Galindo et al. "Fumarate Hydratase Deficiency in Renal Cancer Induces Glycolytic Addiction and Hypoxia-Inducible Transcription Factor 1α Stabilization by Glucose-Dependent Generation of Reactive Oxygen Species". Molecular and Cellular Biology 29, n.º 15 (26 de mayo de 2009): 4080–90. http://dx.doi.org/10.1128/mcb.00483-09.

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ABSTRACT Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer syndrome linked to biallelic inactivation of the gene encoding the tricarboxylic acid cycle enzyme fumarate hydratase (FH). Individuals with HLRCC are at risk to develop cutaneous and uterine leiomyomas and an aggressive form of kidney cancer. Pseudohypoxic drive—the aberrant activation of cellular hypoxia response pathways despite normal oxygen tension—is considered to be a likely mechanism underlying the etiology of this tumor. Pseudohypoxia requires the oxygen-independent stabilization of the α subunit of the hypoxia-inducible transcription factor (HIF-1α). Under normoxic conditions, proline hydroxylation of HIF-1α permits VHL recognition and subsequent targeting for proteasomal degradation. Here, we demonstrate that inactivating mutations of FH in an HLRCC-derived cell line result in glucose-mediated generation of cellular reactive oxygen species (ROS) and ROS-dependent HIF-1α stabilization. Additionally, we demonstrate that stable knockdown of FH in immortalized renal epithelial cells results in ROS-dependent HIF-1α stabilization. These data reveal that the obligate glycolytic switch present in HLRCC is critical to HIF stabilization via ROS generation.
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Sandhu, Ivraj Singh, Nicholas James Maksim, Eva Alice Amouzougan, Bryce Wilson Gallion, Anthony L. J. Raviele y Aikseng Ooi. "Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1)". Biochemical Society Transactions 43, n.º 4 (1 de agosto de 2015): 650–56. http://dx.doi.org/10.1042/bst20150041.

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The nuclear erythroid 2-like 2 transcription factor (NRF2), is a major regulator of cellular redox balance. Although NRF2 activation is generally regarded as beneficial to human health, recent studies have identified that sustained NRF2 activation is over-represented in many cancers. This raises the question regarding the role of NRF2 activation in the development and progression of those cancers. This review focuses on the mechanisms and the effects of NRF2 activation in two hereditary cancer predisposition syndromes: hereditary leiomyomatosis and renal cell cancer (HLRCC) and hereditary tyrosinemia type 1 (HT1). Because the cancer initiating mutations in these hereditary syndromes are well defined, they offer a unique opportunity to explore the roles of NRF2 activation in the early stages of carcinogenesis. Over the years, a variety of approaches have been utilized to study the biology of HLRCC and HT1. In HLRCC, in vitro studies have demonstrated the importance of NRF2 activation in sustaining cancer cell proliferation. In the mouse model of HT1 however, NRF2 activation seems to protect cells from malignant transformation. In both HT1 and HLRCC, NRF2 activation promotes the clearance of electrophilic metabolites, enabling cells to survive cancer-initiating mutations. Biological insights gained from the hereditary syndromes’ studies may shed light on to the roles of NRF2 activation in sporadic tumours.
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7

Woolner, Kathryn, Ashley O’Toole y Lauren LaBerge. "First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy". Journal of Cutaneous Medicine and Surgery 20, n.º 4 (22 de febrero de 2016): 334–36. http://dx.doi.org/10.1177/1203475416634091.

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Background: Reed’s syndrome, also known as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome, is an autosomal dominant condition in which affected individuals may develop cutaneous leiomyomas, uterine fibroids, and renal cell carcinoma. Objective: This report describes a unique case of HLRCC because it presented in pregnancy with development of cutaneous pilar leiomyomas. Methods: Review of the literature for previous cases of Reed’s syndrome during pregnancy including PubMed and Medline search. Results: Genetic testing of this patient demonstrated a mutation in the fumarate hydratase ( FH) gene. Review of the literature showed only 1 previous case series that described the onset of cutaneous lesions during pregnancy. Conclusion: This case serves as a reminder that there may exist a correlation between pregnancy and the first manifestation of cutaneous lesions in patients with HLRCC, and thus an increased clinical suspicion is warranted during this period.
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Ristau, Benjamin T., Sonal N. Kamat y Tatum V. Tarin. "Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?" Case Reports in Urology 2015 (2015): 1–5. http://dx.doi.org/10.1155/2015/303872.

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The hereditary leiomyomatosis and renal cell cancer (HLRCC) association is a rare syndrome caused by mutation of the Kreb’s cycle enzyme, fumarate hydratase (FH). It is characterized by unusually aggressive type 2 papillary renal cell histology. FH is responsible for catalyzing the conversion of fumarate to malate. Its absence leads to a state of “pseudohypoxia,” inducing hypoxia inducible factor 1α(HIF-1α) and leading to increased growth factor transcription (e.g., vascular endothelial growth factor, VEGF; glucose transporter 1, GLUT1). Ultimately, this results in tumorigenesis. We present a patient who was diagnosed with HLRCC and underwent bilateral nephrectomies. One of the nephrectomy specimens was notable for benign cystic lesions that stained positive immunohistochemically for succinated proteins, a finding only noted in FH-deficient cells. Thus, we posit a potential precursor lesion to type 2 papillary renal cell carcinoma in the HLRCC syndrome.
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Srinivasan, Ramaprasad, Sandeep Gurram, Munjid Al Harthy, Eric A. Singer, Abhinav Sidana, Brian M. Shuch, Mark Wayne Ball et al. "Results from a phase II study of bevacizumab and erlotinib in subjects with advanced hereditary leiomyomatosis and renal cell cancer (HLRCC) or sporadic papillary renal cell cancer." Journal of Clinical Oncology 38, n.º 15_suppl (20 de mayo de 2020): 5004. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.5004.

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5004 Background: HLRCC is a familial cancer syndrome associated with a type 2 papillary RCC (pRCC) variant. HLRCC is caused by germline mutations in the gene for the Krebs cycle enzyme fumarate hydratase (FH). FH inactivation results in VHL-independent upregulation of hypoxia inducible factor, a reliance on aerobic glycolysis, and activation of the NRF2 pathway, features also shared by some sporadic pRCC tumors. We hypothesized that the metabolic alterations underlying these tumors would be susceptible to targeted therapy with a combination of bevacizumab and erlotinib. Methods: Patients with advanced pRCC were eligible to enroll on this phase II study. To enrich for patients with FH deficiency, those with 1) HLRCC and 2) sporadic pRCC were enrolled into parallel, independent cohorts. All patients received bevacizumab 10 mg/kg IV every 2 weeks and erlotinib 150 mg orally daily. Patients who had received no more than two agents targeting the VEGFR pathway were included. Patients remained on treatment until unacceptable toxicity or progression. The primary endpoint was overall response rate (ORR); secondary endpoints were progression free survival (PFS) and duration of response. Results: A total of 83 patients with pRCC, including 42 in the HLRCC cohort and 41 in the sporadic cohort were enrolled on study. The majority of patients were IMDC intermediate risk (53/83, 64%) and 27 (33%) had at least one prior treatment. The ORR was 51% (42/83; 95% CI, 40 – 61) in all patients, 64% (27/42; 95% CI, 49 – 77) in the HLRCC cohort, and 37% (15/41; 95% CI, 24 – 52) in the sporadic cohort. The median PFS was 14.2 months (95% CI, 11.4 – 18.6) in all patients, 21.1 months (95% CI, 15.6 – 26.6) in the HLRCC cohort, and 8.7 months (95% CI, 6.4 – 12.6) in the sporadic cohort. The majority of treatment related adverse events (TRAEs) were grade 1 or 2 with the most common being acneiform rash (92%), diarrhea (77%), proteinuria (71%), and dry skin (61%). Grade ≥3 TRAEs occurred in 47% of patients, including hypertension (34%) and proteinuria (13%), with one patient (1.2%) with a grade 5 GI hemorrhage possibly related to bevacizumab. Conclusions: The combination of bevacizumab and erlotinib is well tolerated and is associated with encouraging activity in advanced pRCC, particularly in patients with FH deficient tumors. This is the first and largest prospective study in HLRCC and provides the basis for considering bevacizumab and erlotinib as a preferred option in a patient population that has no widely accepted standard. Clinical trial information: NCT01130519 .
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Crooks, Daniel R., Nunziata Maio, Martin Lang, Christopher J. Ricketts, Cathy D. Vocke, Sandeep Gurram, Sevilay Turan et al. "Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase–deficient renal cancer". Science Signaling 14, n.º 664 (5 de enero de 2021): eabc4436. http://dx.doi.org/10.1126/scisignal.abc4436.

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Understanding the mechanisms of the Warburg shift to aerobic glycolysis is critical to defining the metabolic basis of cancer. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an aggressive cancer characterized by biallelic inactivation of the gene encoding the Krebs cycle enzyme fumarate hydratase, an early shift to aerobic glycolysis, and rapid metastasis. We observed impairment of the mitochondrial respiratory chain in tumors from patients with HLRCC. Biochemical and transcriptomic analyses revealed that respiratory chain dysfunction in the tumors was due to loss of expression of mitochondrial DNA (mtDNA)–encoded subunits of respiratory chain complexes, caused by a marked decrease in mtDNA content and increased mtDNA mutations. We demonstrated that accumulation of fumarate in HLRCC tumors inactivated the core factors responsible for replication and proofreading of mtDNA, leading to loss of respiratory chain components, thereby promoting the shift to aerobic glycolysis and disease progression in this prototypic model of glucose-dependent human cancer.
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Tesis sobre el tema "HLRCC"

1

Kiuru, Maija. "Molecular basis of hereditary leiomyomatosis and renal cell cancer (HLRCC)". Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/kiuru/.

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2

Kerins, Michael John, Ajay Amar Vashisht, Benjamin Xi-Tong Liang, Spencer Jordan Duckworth, Brandon John Praslicka, James Akira Wohlschlegel y Aikseng Ooi. "Fumarate Mediates a Chronic Proliferative Signal in Fumarate Hydratase-Inactivated Cancer Cells by Increasing Transcription and Translation of Ferritin Genes". AMER SOC MICROBIOLOGY, 2017. http://hdl.handle.net/10150/624216.

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Germ line mutations of the gene encoding the tricarboxylic acid (TCA) cycle enzyme fumarate hydratase (FH) cause a hereditary cancer syndrome known as hereditary leiomyomatosis and renal cell cancer (HLRCC). HLRCC-associated tumors harbor biallelic FH inactivation that results in the accumulation of the TCA cycle metabolite fumarate. Although it is known that fumarate accumulation can alter cellular signaling, if and how fumarate confers a growth advantage remain unclear. Here we show that fumarate accumulation confers a chronic proliferative signal by disrupting cellular iron signaling. Specifically, fumarate covalently modifies cysteine residues on iron regulatory protein 2 (IRP2), rendering it unable to repress ferritin mRNA translation. Simultaneously, fumarate increases ferritin gene transcription by activating the NRF2 (nuclear factor [erythroid-derived 2]-like 2) transcription factor. In turn, increased ferritin protein levels promote the expression of the promitotic transcription factor FOXM1 (Forkhead box protein M1). Consistently, clinical HLRCC tissues showed increased expression levels of both FOXM1 and its proliferation-associated target genes. This finding demonstrates how FH inactivation can endow cells with a growth advantage.
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O'Flaherty, Linda H. "Development of novel in vitro and in vivo models for determining primary events in HLRCC tumourigenesis". Thesis, University of Oxford, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.565984.

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Development of novel ill vitro and ill vivo models for determining primary events in HLRCC tumourigenesis Linda O'Flaherty, Mansfield College Thesis submitted for degree of Doctor of Philosophy Nuffield Department of Clinical Medicine, University of Oxford Hilary Term 2012 Germline mutations of fumarate hydratase (FR), encoding an enzyme of the tricarboxylic acid (TCA) cycle, predispose affected individuals to hereditary leiomyomatosis and renal cell cancer (HLRCC). FH-deficient cells and tissues have been shown to accumulate fumarate, exhibit S-(2-succinyl) cysteine (2SC) protein modifications and to constitutively express hypoxia-inducible factor alpha (HIF -1 a and -20.), under nonnoxic conditions. This thesis presents a phenotypic characterisation of FhI-I- mouse embryonic fibroblasts (MEFs), generated from previously reported conditional Fhl knockout mice, as a new in vitro system for investigating and identifying biochemical and metabolic pathways that are dysregulated as a result of FhI inactivation. These cell lines reproduced the aforementioned phenotypes, in addition to an observed shift from oxidative phosphorylation (OXPHOS) to glycolytic metabolism. Re-expression of either full length, mitochondrial-targeted FH (FhI-I- +FH) or cytoplasmic FH (Fhrl- +FHl'1MTS) in FhI-deficient MEFs was sufficient to reduce intracellular fumarate and to correct for the dysregulation of the Hif pathway. These results were of particular interest as they demonstrated that nonnoxic stabilisation of Hif-Ia occurs independently of the persistent mitochondrial defect observed in Fhrl- +FHl'1MTS MEFs. These findings were corroborated in vivo following the development of transgenic mouse models, ubiquitously expressing either FH or FHl'1MTS in mice with targeted inactivation of FhI in renal tubular cells. Surprisingly, the cytoplasmic-restricted FH (FHl'1MTS) transgene was just as efficient as the transgenic mice expressing mitochondrial- targeted FH at rescuing the cystic phenotype associated with Fh I-deficiency in the kidneys. As the function of cytoplasmic FH has remained poorly understood, these results go some way to extricating a role for this isofonn of FH. The results of this thesis demonstrate that these novel in vitro and in vivo models, used either alone or in combination, are a versatile and robust paradigm for studying altered cell metabolism in not only HLRCC but other diseases associated with metabolic dysregulation.
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Bell, Robert C., Evan T. Austin, Stacy J. Arnold, Frank C. Lin, Jonathan R. Walker y Brandon T. Larsen. "Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC". HINDAWI PUBLISHING CORP, 2016. http://hdl.handle.net/10150/621542.

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Background . Genital leiomyomas fall under the broader category of cutaneous leiomyomas, which are rare smooth muscle neoplasms accounting for 5% of all leiomyomas. Genital leiomyomas arising from the dartos muscle are exceedingly rare with fewer than 30 cases reported in the literature. They are typically benign and adequately treated with simple surgical excision; however, previously reported cases of malignant transformation and a possible link to the hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome warrant closer follow-up. Case Presentation . We report a case of a 47-year-old male refugee from Rwanda found to have a mobile, pea-sized, mildly painful scrotal lesion near the left penoscrotal junction and 1.5 cm indeterminate vascular mass in the right kidney. Surgical excision of the scrotal nodule was performed and the diagnosis of a dartoic leiomyoma was rendered. The presence of moderate nuclear atypia, rare mitotic activity, and close surgical margins prompted a wide reexcision. We report the surgical approach, pathologic findings, and clinical follow-up related to this scrotal lesion. Conclusion . Scrotal leiomyomas demonstrate a high rate of recurrence and pose a risk for malignant transformation. They may also indicate an underlying autosomal dominant syndrome associated with increased risk for development of an aggressive form of renal cell carcinoma. When discovered, management should include surgical excision, screening for syndromic features, and routine follow-up.
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Perrier-Trudova, Victoria. "Molecular characterization of hereditary and sporadic papillary renal cell carcinoma type 2 (PRCC2)". Thesis, Paris, EPHE, 2015. http://www.theses.fr/2015EPHE3085.

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Le cancer du rein papillaire de type 2 (PRCC2) est un cancer très agressif avec un potentiel métastatique élevé et pour lequel il n’y a pas de traitement efficace. La forme héréditaire de PRCC2 est associée au syndrome rare de la léiomyomatose cutanéo-utérine héréditaire (HLRCC). HLRCC est due à une mutation germinale hétérozygote du gène Fumarate Hydratase (FH) qui code l'enzyme du cycle de Krebs, la Fumarase. Le déficit en fumarase induit l’accumulation de fumarate et active les voies de signalisation du facteur de transcription inductible par l’hypoxie (HIF) et des espèces réactives de l’oxygène (ROS). Néanmoins, aucune mutation du gène FH n’a été rapportée dans les cas de PRCC2 sporadiques. Le projet de recherche porte sur la caractérisation moléculaire des PRCC2 héréditaires et sporadiques. Notre analyse du transcriptome a identifié des différences entre les signatures moléculaires des PRCC2 héréditaires et sporadiques. Cependant, l’étude d’immunohistochimie n'a pas révélé de biomarqueurs potentiels. Les analyses bio-informatiques de profils d’expression génique ont révélé que les tumeurs PRCC2 héréditaires et sporadiques partagent une dérégulation de la voie principale NRF2/KEAP1. Il a été montré que la surexpression de AKR1B10 (Aldo-Keto Reductase Family 1 Membre B10) est la conséquence directe de l’activation de l'élément de réponse antioxydant (ARE). Finalement, nous avons établi un nouveau modèle in vitro de lignée cellulaire, NCCFH1 (FH-/-), issue d’un patient HLRCC. NCCFH1 représente une plateforme idéale pour les études fonctionnelles, métaboliques et thérapeutiques. Bortézomib pourrait être la meilleure alternative thérapeutique pour les patients avec PRCC2
Papillary Renal Cell Carcinoma type 2 (PRCC2) is known to be a very aggressive type of kidney cancer with a high metastatic potential, poor outcome and absence of effective therapy. Hereditary form of PRCC2 is associated with rare hereditary leiomyomatosis and renal cell carcinoma (HLRCC). HLRCC is characterized by germline heterozygous mutations in the Fumarate Hydratase (FH) gene that encodes an enzyme of the Krebs cycle, Fumarase. It has been shown that the accumulation of fumarate induces activation of Hypoxia Inducible Factor (HIF) and ROS (Reactive Oxygen Species) pathways. Nevertheless, no FH gene mutation has been reported in sporadic PRCC2 tumors. The goal of this study is to better characterize hereditary and sporadic PRCC2. Our transcriptome analysis identified the set of genes that are differentially expressed between the two types of PRCC2. Subsequent immunohistochemistry screening did not reveal any potential diagnostics biomarkers. Further, the comprehensive computational analysis of gene profiling data revealed that hereditary and sporadic PRCC2 share the similar molecular signature with NRF2-KEAP1 axis deregulation as one of the major pathway in both forms. We demonstrated that over expression of Aldo-keto reductase family 1 member B10 (AKR1B10) is the direct consequence of the antioxidant response element (ARE) activation shared in hereditary and sporadic tumors. Finally, we have established FH-deficient cell line (NCCFH1) a new preclinical model of hereditary PRCC2. It presents the perfect platform for studying the metabolic features and testing new therapies for hereditary PRCC2, while bortezomib appears to be a potential efficient therapeutic option
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Uimari, O. (Outi). "Epidemiological and familial risk factors of uterine leiomyoma development". Doctoral thesis, Oulun yliopisto, 2017. http://urn.fi/urn:isbn:9789526214870.

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Abstract Uterine leiomyomas are the most common benign tumours in females. They are myometrial neoplasms, may present single or multiple, and may be located in various sites of the uterus. Leiomyomas distort the uterine cavity and the uterus itself, causing abnormal vaginal bleeding, reduced fertility and also pelvic pressure and pain symptoms. The aim of this study was to elaborate current knowledge on familial uterine leiomyomas and to explore the possible association between uterine leiomyoma and cardiovascular disease risk factors, and also the association between leiomyomas and endometriosis. The natural history of familial uterine leiomyoma study showed significant differences between familial and non-familial leiomyoma cases, familial cases having more severe clinical characteristics. They presented with multiple uterine leiomyomas and were more often symptomatic. They were also diagnosed at a younger age. The prevalence study on uterine leiomyomas and endometriosis offered confirmation of an association between the diseases. Uterine leiomyomas and endometriosis seem to decrease female fertility independently of each other. Uterine leiomyomas related to the hereditary leiomyomatosis and renal cell cancer (HLRCC) tumour syndrome were studied in regard to their clinical characteristics and immunophenotype. The study provided evidence that women with HLRCC may be identified through distinct leiomyoma clinical characteristics, and routine-use IHC of CD34 and Bcl-2. Distinguishing these leiomyoma cases from sporadic ones may identify families affected by fumarate hydratase (fumarase, FH) mutation. Uterine leiomyoma and cardiovascular disease risk factors were studied in The Northern Finland Birth Cohort 1966 (NFBC1966). The study showed an association between leiomyomas and raised cardiovascular disease risk factors, serum lipids and metabolic syndrome in particular. These findings may suggest that there are shared predisposing factors underlying both uterine leiomyomas and adverse metabolic and cardiac disease risks, or that metabolic factors have a role in biological mechanisms underlying leiomyoma development. This study provides novel information on clinical characteristics of familial uterine leiomyomas and on the immunophenotype of HLRCC-related leiomyomas. The study also offers significant confirmation of associations between uterine leiomyomas and both endometriosis and several CVD risk factors
Tiivistelmä Kohdun leiomyoomat ovat naisten yleisin hyvänlaatuinen kasvain. Ne ovat myometriumin neoplastisia muutoksia ja ne ilmenevät joko yksittäisinä tai monilukuisina, ja ne voivat sijaita missä tahansa kohdun myometriumia. Leiomyoomat muuttavat kohdun ja kohtuontelon säännöllistä muotoa. Lisäksi ne aiheuttavat vuotohäiriöitä, alentunutta hedelmällisyyttä, ja lantion alueen painetta ja kipua. Tämän tutkimuksen tavoitteena oli laajentaa nykyistä tietämystä suvuittain esiintyvistä kohdun leiomyoomista ja selvittää mahdollista leiomyoomien ja kardiovaskulaaritautiriskin assosiaatiota, ja lisäksi selvittää leiomyoomien ja endometrioosin assosiaatiota. Suvuittain esiintyvien kohdun leiomyoomien taudinkulkua selvittävässä tutkimuksessa osoitettiin merkittäviä eroja suvuittain ja ei-suvuittain esiintyvien leiomyoomien välillä. Suvuittain esiintyvien leiomyoomien kliininen taudinkuva oli vaikeampi, leiomyoomia oli kohdussa useampia ja ne aiheuttivat useammin oireita ja lisäksi ne diagnosoitiin nuoremmalla iällä. Kohdun leiomyoomien ja endometrioosin yleisyyttä selvittävä tutkimus antoi lisävahvistusta sille havainnolle, että nämä taudit assosioivat keskenään. Tutkimustuloksen mukaan leiomyoomat ja endometrioosi vähentävät naisen hedelmällisyyttä toisistaan riippumatta. Perinnöllinen kohdun leiomyomatoosi ja munuaissyöpä (hereditary leiomyomatosis and renal cell cancer, HLRCC) -kasvainoireyhtymään liittyvän kohdun leiomyoomia selvittävän tutkimuksen tuloksien mukaan HLRCC-naisten kohdun leiomyoomien kliiniset ominaisuudet poikkeavat satunnaisesti esiintyvien leiomyoomien ominaisuuksista. Naisella HLRCC voitaisiinkin tunnistaa näiden poikkeavien ominaisuuksien perusteella, sekä immunohistokemiallisilla värjäyksillä CD34 ja Bcl-2. Fumaraattihydrataasi (fumaraasi, FH) -geenin mutaatiota kantava suku voitaisiin siten tunnistaa yksittäisen HLRCC leiomyoomatapauksen avulla. Pohjois-Suomen syntymäkohortti 1966 (Northern Finland Birth Cohort 1966, NFBC1966) tutkittiin kohdun leiomyoomia ja kardiovaskulaarisairauden riskitekijöitä. Tutkimustuloksien perusteella kohdun leiomyoomat assosioivat koholla olevien kardiovaskulaarisairauden riskien kanssa, erityisesti seerumin lipidien ja metabolisen syndrooman suhteen. Näiden tutkimustulosten perusteella voidaan esittää, että leiomyoomien ja terveydelle epäedullisen metabolian ja kardiovaskulaaritaudin riskien taustalla on mahdollisesti joitain yhteisiä altistavia tekijöitä, tai että metabolisilla tekijöillä on rooli kohdun leiomyoomien tautimekanismissa. Tämä tutkimus on tuottanut uutta tietoa suvuittain esiintyvien kohdun leiomyoomien kliinisestä taudinkuvasta ja HLRCC:n liittyvien leiomyoomien immunofenotyypistä. Lisäksi tämä tutkimus esittää lisävahvistusta kohdun leiomyoomien ja endometrioosin assosiaatiolle sekä useille kardiovaskulaaririskitekijöille
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(5930213), Faeze Saatchi. "INVESTIGATING ROLES OF THE METABOLIC ENZYME FUMARASE AND THE METABOLITE FUMARATE IN DNA DAMAGE RESPONSE". Thesis, 2019.

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In eukaryotic cells, DNA is packaged into a structure named chromatin which contains DNA and proteins. Nucleosomes are building blocks of chromatin and contain DNA wrapped around a histone octamer. Chromatin modifications (histone post-translational modifications and histone variants) play central roles in various cellular processes including gene expression and DNA damage response. Chromatin modifying enzymes use metabolites as co-substrates and co-factors, and changes in metabolic pathways and metabolite availability affects chromatin modifications and chromatin-associated functions. Moreover, recent studies have uncovered direct roles of metabolic enzymes in chromatin-associated functions. Fumarase, a TCA cycle enzyme that catalyzes the reversible conversion of fumarate to malate in mitochondria (a hydration reaction), is an example of an enzyme with dual functions in metabolism and genome integrity. Cytoplasmic fraction of yeast fumarase, Fum1p, localizes to the nucleus and promotes growth upon DNA damage. Fum1p promotes homologous recombination by enhancing DNA end resection. Human fumarase is involved in DNA repair by non-homologous end joining. Here, we provide evidence that yeast Fum1p and the histone variant Htz1p are also involved in DNA replication stress response and DNA repair by non-homologous end joining (NHEJ). Using mutants lacking the histone variant HTZ1, we show that high cellular levels of fumarate, by deletion of FUM1 or addition of exogenous fumarate, suppressed the sensitivity to DNA replication stress by modulation of activity of Jhd2p. This suppression required sensors and mediators of the intra-S phase checkpoint, but not factors involved in the processing of replication intermediates. These results imply that high cellular levels of fumarate can confer resistance to DNA replication stress by bypassing or complementing the defects caused by loss of HTZ1 and replication fork processing factors. We also show that upon induction of DSBs, exogenous fumarate conferred resistance to mutants with defects in NHEJ, early steps of homologous recombination (DNA end resection pathway) or late steps of homologous recombination (strand invasion and exchange). Taken together, these results link the metabolic enzyme fumarase and the metabolite fumarate to DNA damage response and show that modulation of DNA damage response by regulating activity of chromatin modifying enzymes is a plausible pathway linking metabolism and nutrient availability to chromatin-associated functions like genome integrity.

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Ondič, Ondrej. "Praktická aplikace imunohistochemických a molekulárně - genetických metod v diferenciální diagnostice lézí urogenitálního a gynekologického traktu". Doctoral thesis, 2018. http://www.nusl.cz/ntk/nusl-391332.

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This thesis focuses on gynecopathology. It consists of a collection of seven papers published in pathology journals with impact factor. Introduction section contains selection of examples showing scientific application of molecular genetic methods. Further on the aims of individual research projects are described. The first project comprises histomophologic study of skin endometriosis addressing "mullerian" differentiation. A case report of a rare tumor namely borderline papillary serous tumor of the fimbriated end of the fallopian tube follows with molecular genetic analysis of KRAS, BRAF and p53 gene mutation status. Prospective longitudinal study on high grade squamous dysplasia (HSIL) of the cervix in HPV vaccinated women, so called DAV (dysplasia after vaccination), aims to elucidate pathogenesis of this phenomenon. Two other studies focus on incidence of fumarate hydratase deficient leiomyomas of the uterus and hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC). The aim of those studies is to improve our diagnostic capability and increase detection rate of the patients with HLRCC syndrome. Finally a new subtype of HSIL namely bizarre cell dysplasia is described in two separate studies. Conclusion remarks contemplate the role of molecular genetics in surgical pathology.
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Capítulos de libros sobre el tema "HLRCC"

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Metze, Dieter, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung et al. "HLRCC". En Encyclopedia of Molecular Mechanisms of Disease, 848. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7667.

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Henson, John W. y Robert G. Resta. "Table 38. Hereditary leiomyoma and renal cell carcinoma (HLRCC)". En Diagnosis and Management of Hereditary Cancer, 277–78. Elsevier, 2021. http://dx.doi.org/10.1016/b978-0-323-90029-4.00038-9.

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SCHNAUBELT, ELIZABETH R. y COLLEEN S. KRAFT. "Clinical Research in the HLCC Setting". En Nebraska Isolation and Quarantine Manual, 231–40. University of Nebraska Medical Center, 2020. http://dx.doi.org/10.2307/j.ctvz0h904.27.

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Actas de conferencias sobre el tema "HLRCC"

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Kämpjärvi, Kati, Netta Mäkinen, Miika Mehine, Jaana Tolvanen, Tuomas Heikkinen, Ralf Bützow, Lauri A. Aaltonen y Pia Vahteristo. "Abstract 3514: MED12 and FH mutations in HLRCC associated uterine leiomyomas". En Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-3514.

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Merino, Maria J., Esra Dikoglu, Sandeep Gurram, Marston Linehan y Ramaprasad Srinivasan. "Abstract 2556: The somatic variant of HLRCC, an unrecognized type of RCC". En Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-2556.

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Kämpjärvi, Kati, Miika Mehine, Pia Vahteristo y Lauri A. Aaltonen. "Abstract 1998: Exome sequencing and SNP array analysis of HLRCC syndromic uterine leiomyomas." En Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1998.

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Ahvenainen, Terhi, Outi Uimari, Anne Ahtikoski, Kati Kämpjärvi, Ralf Bützow y Pia Vahteristo. "Abstract 3992: Comparison of AKR1B10, 2SC, and FH as biomarkers for HLRCC detection". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-3992.

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Ahvenainen, Terhi, Outi Uimari, Anne Ahtikoski, Kati Kämpjärvi, Ralf Bützow y Pia Vahteristo. "Abstract 3992: Comparison of AKR1B10, 2SC, and FH as biomarkers for HLRCC detection". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-3992.

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Vocke, Cathy D., Christopher J. Ricketts, Lindsay A. Middelton, Youfeng Yang y W. Marston Linehan. "Abstract 3179: Germline deletion of FH in hereditary leiomyomatosis and renal cell carcinoma (HLRCC)". En Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-3179.

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Sourbier, Carole, Yeong-Sang Kim, Sunmin Lee, Jane Trepel, Len Neckers y W. Marston Linehan. "Abstract 5291: Exploring mechanisms underlying invasion in HLRCC: Assessing the contribution of HIF and ROS". En Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-5291.

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Vats, Pankaj, Yuping Zhang, Sarvana Mohan Dhanashekaran, Narayanan Sathiya Pandi, Xuhong Cao, Fengyun Su, Sudhanshu Shukla et al. "Abstract 730: Genomic characterization of hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a rare and aggressive kidney cancer". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-730.

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Vats, Pankaj, Yuping Zhang, Sarvana Mohan Dhanashekaran, Narayanan Sathiya Pandi, Xuhong Cao, Fengyun Su, Sudhanshu Shukla et al. "Abstract 730: Genomic characterization of hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a rare and aggressive kidney cancer". En Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-730.

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Walsh, Michael F., Diana Mandelker, Joseph Vijai, David Musheyev, Jennifer Kennedy, Zsofia Stadler, Yelena Kemel et al. "Abstract 4280:FH(rs367543046, chr1:241661227 A/ATTT) heterozygous carrier status does not confer risk to hereditary leiomyomatosis and renal cell cancer (HLRCC) and prostate cancer". En Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-4280.

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