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Journal articles on the topic 'Carney, complexe'

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Published: 4 June 2021

Last updated: 1 February 2022

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1

Groussin, L., H. Lefebvre, A. Martinez, E. Jullian, C. A. Stratakis, and J. Bertherat. "Réseau d’étude du complexe de Carney (Carney complex network : CCN)." Annales d'Endocrinologie 66, no. 3 (June 2005): 304–5. http://dx.doi.org/10.1016/s0003-4266(05)81771-8.

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2

Orgeolet, L., S. Valentin, G. Lemasson, S. Fraitag, L. Misery, and C. Abasq. "Schwannome mélanotique et complexe de Carney." Annales de Dermatologie et de Vénéréologie 145, no. 12 (December 2018): S189—S190. http://dx.doi.org/10.1016/j.annder.2018.09.268.

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3

Carvelli, J., G. Yucef, D. Bagneres, A. L. Demoux, K. Aissi, A. Quatre, F. Bernard, B. Granel, P. Rossi, and Y. Frances. "Le complexe de Carney : un diagnostic d’inspection." La Revue de Médecine Interne 34 (June 2013): A159. http://dx.doi.org/10.1016/j.revmed.2013.03.165.

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4

Desforges, V., S. Marcelli-Tourvieille, P. Vennin, F. Pattou, F. Tissier-Rible, J. Bertherat, and M. C. Vantyghem. "P1-111 - Complexe de carney et tumeur mammaire." Annales d'Endocrinologie 67, no. 5 (October 2006): 444. http://dx.doi.org/10.1016/s0003-4266(06)72764-0.

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5

Chambre, C., H. Bihan, C. Baudry, G. Reach, M. Fysekidis, S. Papadopoulou, A. Guyot, F. Cale, and N. Cucherousset. "Le complexe de Carney: une cause rare d’acromégalie." Annales d'Endocrinologie 75, no. 5-6 (October 2014): 444. http://dx.doi.org/10.1016/j.ando.2014.07.587.

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6

Espiard, S., C. Cardot-Bauters, G. Raverot, M. L. Nunes, F. Brucker-Davis, M. Houang, F. Archambeaud, et al. "Description prospective des manifestations du complexe de Carney : première analyse du PHRC national EVA-Carney." Annales d'Endocrinologie 76, no. 4 (September 2015): 320–21. http://dx.doi.org/10.1016/j.ando.2015.07.092.

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7

Cazabat, L., L. Groussin, F. René-Corail, E. Jullian, X. Bertagna, and J. Bertherat. "Dysplasie micronodulaire pigmentée des surrénales et complexe de Carney." Annales d'Endocrinologie 66, no. 3 (June 2005): 187–93. http://dx.doi.org/10.1016/s0003-4266(05)81750-0.

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8

Ahandar, H., S. El Aziz, and A. Chadli. "Acromégalie et complexe de Carney : à propos d’un cas." Annales d'Endocrinologie 76, no. 4 (September 2015): 405. http://dx.doi.org/10.1016/j.ando.2015.07.336.

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9

Vitellius, G., and B. Delemer. "Traitement chirurgical du complexe de Carney : surrénalectomie uni ou bilatérale ?" Annales d'Endocrinologie 81, no. 4 (September 2020): 197. http://dx.doi.org/10.1016/j.ando.2020.07.156.

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10

Archambeaud, F., C. Boulogne, S. Nassouri, A. Drutel, L. Pivois, E. Cornu, and S. Galinat. "Aspects cliniques et évolutifs des myxomes cardiaques dans le complexe de Carney." La Revue de Médecine Interne 32 (June 2011): S188—S189. http://dx.doi.org/10.1016/j.revmed.2011.03.326.

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11

Rhayem, Y., C. Le-Stunff, A. Linglart, J. Bertherat, C. Silve, and E. Clauser. "Comparaison fonctionnelle de mutants PRKAR1A responsables de complexe de Carney et d’acrodysostose." Annales d'Endocrinologie 74, no. 4 (September 2013): 278–79. http://dx.doi.org/10.1016/j.ando.2013.07.125.

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12

Lefrançois-Martinez, A. M. "Plasticité de l’ovaire différencié et complexe de Carney, évidences de commutateurs endocrines." Annales d'Endocrinologie 82, no. 5 (October 2021): 226. http://dx.doi.org/10.1016/j.ando.2021.07.022.

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13

Jrad, Grace, Léopoldine Bricaire, and Jérôme Bertherat. "Hyperestrogénie chez un patient présentant un complexe de Carney avec tumeurs testiculaires multiples." Annales d'Endocrinologie 75, no. 2 (May 2014): 77–78. http://dx.doi.org/10.1016/j.ando.2014.04.009.

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14

Acquitter, M., S. Peudenier, V. Laparra, P. Vouhe, L. Misery, and C. Abasq-Thomas. "Complexe de Carney (CNC) révélé devant un accident vasculaire cérébelleux à six ans." Annales de Dermatologie et de Vénéréologie 140, no. 12 (December 2013): S549. http://dx.doi.org/10.1016/j.annder.2013.09.424.

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15

Sahut Barnola, I., A. M. Lefrancois-Martinez, C. Kamilaris, F. Rueda-Faucz, C. Stratakis, P. Val, and A. Martinez. "Vers une explication développementale de l’origine des lésions cutanées dans le complexe de Carney." Annales d'Endocrinologie 82, no. 5 (October 2021): 272. http://dx.doi.org/10.1016/j.ando.2021.08.051.

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16

Groussin, L., D. Rosenberg, K. Perlemoine, and J. Bertherat. "Activation inappropriée de la protéine kinase A dans les tumeurs endocrines du complexe de Carney." médecine/sciences 16, no. 12 (2000): 1419. http://dx.doi.org/10.4267/10608/1598.

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17

Rhayem, Y., M. Guillaud-Bataille, S. B. De Sousa, R. Libe, J. De Sa, N. Hamzaoui, J. Bertherat, and E. Clauser. "Grands réarrangements du gène PRKAR1A dans le complexe de Carney et l’hyperplasie micronodulaire pigmentée des surrénales." Annales d'Endocrinologie 74, no. 4 (September 2013): 275. http://dx.doi.org/10.1016/j.ando.2013.07.800.

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18

Djari, C., I. Barnola, T. Dumontet, L. Felicia, A. Septier, P. Val, A. Martinez, and A. M. Lefrançois-Martinez. "Un modèle génétique murin pour l’exploration moléculaire et cellulaire des tumorigenèses testiculaires du complexe de Carney." Annales d'Endocrinologie 77, no. 4 (September 2016): 251. http://dx.doi.org/10.1016/j.ando.2016.07.051.

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19

Daidi, Amel, Nassima Mezghiche, Habiba Louadfel, Sadek Khalef, Abdelkrim Saadi, Wahiba Amer El Khedoud, and Myriem Abada-Bendib. "Accident vasculaire cérébral et peau, entre les deux le cœur balance : à propos d’un Complexe de Carney." Revue Neurologique 173 (March 2017): S162—S163. http://dx.doi.org/10.1016/j.neurol.2017.01.306.

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20

Ragazzon, B., Y. Bo, A. Bouchekioua, J. Bertherat, and M. Rizk-Rabin. "Rôle de KCTD20 dans la tumorigenèse corticosurrénalienne liée aux mutations inactivatrices du gène du complexe de Carney (PRKAR1A)." Annales d'Endocrinologie 78, no. 4 (September 2017): 216. http://dx.doi.org/10.1016/j.ando.2017.07.022.

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21

Vaduva, P., S. Espiard, A. Jouinot, M. C. Vantyghem, G. Assié, C. Cardot-Bauters, G. Raverot, et al. "Le complexe de Carney est-il un syndrome prédisposant au cancer du sein ? Étude prospective de 50 femmes." Annales d'Endocrinologie 81, no. 4 (September 2020): 173. http://dx.doi.org/10.1016/j.ando.2020.07.104.

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22

Parraga, E., D. Saibi, M. Logak, and F. Roux. "Anévrysmes cérébraux à distance après résection d’un myxome de l’oreillette gauche chez une patiente présentant un complexe de Carney." Neurochirurgie 56, no. 6 (December 2010): 560–61. http://dx.doi.org/10.1016/j.neuchi.2010.10.115.

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23

Carvelli, J., G. Yucel, D. Bagnères, A. L. Demoux, K. Aissi, A. Quatre, F. Bernard, B. Granel, P. Rossi, and Y. Frances. "Erratum de l’abstract « CA160 ». Le complexe de Carney : un diagnostic d’inspection [Rev. Med. Interne. 34 (Suppl. 1) (2013) A159]." La Revue de Médecine Interne 35, no. 3 (March 2014): 216. http://dx.doi.org/10.1016/j.revmed.2014.01.003.

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24

Espiard, S., C. Cardot-Bauters, G. Raverot, M. L. Nunes, F. Brucker-Davis, M. Houang, F. Archambeaud-Mouveroux, et al. "Détermination de la fréquence et de l’incidence des manifestations du complexe de Carney à partir d’une première étude prospective incluant 70 patients." Annales d'Endocrinologie 78, no. 4 (September 2017): 250–51. http://dx.doi.org/10.1016/j.ando.2017.07.098.

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25

Roumeau, S., I. Sahut-Barnola, C. Djari, I. Tauveron, P. Val, A. Martinez, and A. M. Lefrançois-Martinez. "Les mutations activatrices de la PKA altèrent les fonctions exocrines et endocrines de l’ovaire : exemple d’un modèle murin de complexe de Carney." Annales d'Endocrinologie 79, no. 4 (September 2018): 225. http://dx.doi.org/10.1016/j.ando.2018.06.094.

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26

Dereure, O. "Mutation du gène codant pour la sous-unité I-a régulatrice de la protéine kinase dépendante de l’AMP cyclique dans le complexe de Carney." Annales de Dermatologie et de Vénéréologie 132, no. 2 (February 2005): 190. http://dx.doi.org/10.1016/s0151-9638(05)79238-3.

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27

Cazabat, L., G. Fumey, K. Perlemoine-Hécalé, M. Rizk-Rabin, Z. Bouizar, E. Jullian, X. Bertagna, L. Groussin, and J. Bertherat. "P175 - Étude fonctionnelle d’une mutation particulière de la sous unité régulatrice R1A de la PKA (PRKAR1A) dans un tableau sévère de complexe de carney (CNC)." Annales d'Endocrinologie 66, no. 5 (October 2005): 472. http://dx.doi.org/10.1016/s0003-4266(05)82016-5.

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28

Groussin, L., F. René-Corail, E. Jullian, X. Bertagna, and J. Bertherat. "CO27 - Mutations fréquentes du gène PRKARLA chez des patients présentant un complexe de carney (CC) et/ou une dysplasie micronodulaire pigmentée (PPNAD, primary pigmented adrenocortical disease)." Annales d'Endocrinologie 65, no. 4 (September 2004): 270. http://dx.doi.org/10.1016/s0003-4266(04)95708-3.

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29

Groussin, L., E. Jullian, F. René-Corail, H. Lefebvre, M. Chr Vantyghem, Ph Chanson, B. Conte-Devolx, X. Bertagna, and J. Bertherat. "P207 - Une mutation du gène prkar1a, retrouvée chez 8 patients avec ppnad (primary pigmented nodular adrenocortical disease), suggère une relation génotype phénotype dans le complexe de carney (cnc)." Annales d'Endocrinologie 65, no. 4 (September 2004): 396–97. http://dx.doi.org/10.1016/s0003-4266(04)95918-5.

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30

Agarwal, Surendra Kumar, Shantanu Pande, and Bipin Chandra. "Carney Complex." World Journal of Endocrine Surgery 6, no. 1 (2014): 1–6. http://dx.doi.org/10.5005/jp-journals-10002-1138.

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ABSTRACT The complex of myxomas, spotty skin pigmentation, and endocrine over activity or Carney complex (CNC) (MIM no. 160980) is an autosomal dominant disorder that was described in 1985 by Carney. The diagnosis of CNC is made if two of the main manifestations of the syndrome are present, these need to be confirmed by histology, biochemical testing, or imaging. Alternatively, the diagnosis is made when one of the criteria is present and the patient is a carrier of a known inactivating mutation of the PRKAR1A gene. Most cases of CNC are caused by inactivating mutations in the gene encoding one of the subunits of the protein kinase A (PKA) tetrameric enzyme, namely regulatory subunit type1 alpha (PRKAR1A), located at 17q22-24. Endocrine, dermatologic, and cardiac anomalies are the main manifestations of CNC. Skin abnormalities are present in almost 77% of the CNC patients. Variety of endocrine gland tumors are observed in CNC patients, namely growth hormone secreting pituitary adenoma (acromegaly), thyroid adenomas or carcinomas, testicular tumors (large cell calcifying sertoli cell tumors), and ovarian cyst. Cardiac myxoma is the most common primary tumor affecting the heart, accounting for nearly half of cardiac neoplasms. Approximately, 30-60% of CNC patients will develop cardiac myxoma, usually at much younger ages than the sporadic tumors. A high degree of suspicion, complete evaluation, genetic counseling is important aspect of management of Carney's disease. Once confirmed, surgical removal remains the mainstay of treatment. How to cite this article Majumdar G, Agarwal SK, Pande S, Chandra B. Carney Complex. World J Endoc Surg 2014;6(1):1-6.

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31

Escher, Fabiano, and John Wilkinson. "A economia política do complexo Soja-Carne Brasil-China." Revista de Economia e Sociologia Rural 57, no. 4 (December 2019): 656–78. http://dx.doi.org/10.1590/1806-9479.2019.191017.

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Resumo O argumento desenvolvido no artigo, baseado na abordagem dos regimes alimentares, é que a formação do “complexo soja-carne Brasil-China”, a partir do início dos anos 2000, representa uma mudança policêntrica nas relações agroalimentares globais, impulsionada pelos interesses das corporações do agronegócio e indústrias alimentares, bem como dos estados nacionais, em uma direção Sul/Oriente, que desafia o poder estabelecido das grandes corporações transnacionais do Atlântico Norte. Com base na literatura contemporânea em economia política agrária e numa combinação de dados quantitativos e qualitativos, são identificadas as origens, características e dinâmicas do complexo soja-carne Brasil-China através de uma análise comparativa e relacional. Após uma breve revisão teórica, se examina a mudança nos hábitos alimentares e dietas de classe e a reestruturação das indústrias de carnes (especialmente suína) e rações do lado chinês, como polo importador, e o boom das commodities e a expansão na produção, na área plantada e nas exportações de soja do lado brasileiro, como polo exportador. Entretanto, apesar da importância do comércio bilateral na dinâmica do complexo soja-carne Brasil-China, recentemente tem havido também um crescente afluxo de investimentos chineses no agronegócio brasileiro. Nas conclusões, além de aspectos estritamente econômicos, aspectos políticos do complexo soja-carne Brasil-China são discutidos.

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32

Fierrard, H., L. Cazabat, G. Fumey, K. Perlemoine-Hécalé, L. Groussin, and J. Bertherat. "Étude des conséquences de l’inactivation du gène du complexe de carney (PRKAR1A : sous unité régulatrice R1A de la PKA) sur l’activité de la PKA et la transcription des gènes cibles de la voie de l’AMPC." Annales d'Endocrinologie 66, no. 3 (June 2005): 310–11. http://dx.doi.org/10.1016/s0003-4266(05)81782-2.

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33

Kamilaris, Crystal, Fabio Faucz, Antonis Voutetakis, and Constantine Stratakis. "Carney Complex." Experimental and Clinical Endocrinology & Diabetes 127, no. 02/03 (November 14, 2018): 156–64. http://dx.doi.org/10.1055/a-0753-4943.

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AbstractCarney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the PRKAR1A gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of PRKAR1A lead to aberrant cyclic-AMP-protein kinase A signaling. Patients may develop multiple skin abnormalities and a variety of endocrine and non-endocrine tumors. Endocrine manifestations include primary pigmented nodular adrenocortical disease, that may cause Cushing syndrome, growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia which can result in acromegaly, as well as gonadal and thyroid tumors. Non-endocrine tumors associated with Carney complex include myxomas of the heart, breast, and other sites, psamommatous melanotic schwannomas, breast ductal adenomas, osteochondromyxomas, and a predisposition to a number of malignancies from adrenal to pancreatic and liver cancer.

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34

Iwashita, Waka, Atsushi Kurabayashi, Chiharu Tanaka, Seiji Naganuma, Takanori Kawamura, Fuminori Aki, and Mutsuo Furihata. "Superficial Angiomyxoma of the Nipple in a Japanese Woman: A Case Report and Review of Literature." International Journal of Surgical Pathology 28, no. 6 (March 24, 2020): 683–87. http://dx.doi.org/10.1177/1066896920913116.

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Superficial angiomyxoma is a rare, benign, multilobulated cutaneous tumor composed of stellate and spindle cells, a prominent myxoid matrix, and numerous blood vessels. Superficial angiomyxoma may be indistinguishable from cutaneous lesions of the Carney complex, although superficial angiomyxoma can occur independently of the complex. In this article, we present the case of a 39-year-old Japanese woman with a 40 × 30 mm, focally ulcerated, polypoid superficial angiomyxoma on the left nipple without any evidence of Carney complex. The development of superficial angiomyxoma on the nipples in a patient without the Carney complex is extremely rare. Indeed, only 3 cases of superficial angiomyxoma arising on the nipple have been reported to date, and this is the first such report in Japan. In such cases, the majority of superficial angiomyxoma of the nipples develop in premenopausal women. The possibility of superficial angiomyxoma should be considered for all polypoid nipple lesion, particularly in premenopausal women, and complete excision with follow-up observation should be performed.

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35

Watson, Joe C., Constantine A. Stratakis, Peter K. Bryant-Greenwood, Christian A. Koch, Lawrence S. Kirschner, Tung Nguyen, J. Aidan Carney, and Edward H. Oldfield. "Neurosurgical implications of Carney complex." Journal of Neurosurgery 92, no. 3 (March 2000): 413–18. http://dx.doi.org/10.3171/jns.2000.92.3.0413.

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Object. The authors present their neurosurgical experience with Carney complex. Carney complex, characterized by spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease, pituitary tumors, and nerve sheath tumors (NSTs), is a recently described, rare, autosomal-dominant familial syndrome that is relatively unknown to neurosurgeons. Neurosurgery is required to treat pituitary adenomas and a rare NST, the psammomatous melanotic schwannoma (PMS), in patients with Carney complex. Cushing's syndrome, a common component of the complex, is caused by primary pigmented nodular adrenocortical disease and is not secondary to an adrenocorticotropic hormone-secreting pituitary adenoma.Methods. The authors reviewed 14 cases of Carney complex, five from the literature and nine from their own experience. Of the 14 pituitary adenomas recognized in association with Carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. The association of PMSs with Carney complex was established in 1990. Of the reported tumors, 28% were associated with spinal nerve sheaths. The spinal tumors occurred in adults (mean age 32 years, range 18–49 years) who presented with pain and radiculopathy. These NSTs may be malignant (10%) and, as with the cardiac myxomas, are associated with significant rates of morbidity and mortality.Conclusions. Because of the surgical comorbidity associated with cardiac myxoma and/or Cushing's syndrome, recognition of Carney complex has important implications for perisurgical patient management and family screening. Study of the genetics of Carney complex and of the biological abnormalities associated with the tumors may provide insight into the general pathobiological abnormalities associated with the tumors may provide insight into the general pathobiological features of pituitary adenomas and NSTs.

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36

Correa, Ricardo, Paraskevi Salpea, and Constantine A. Stratakis. "Carney complex: an update." European Journal of Endocrinology 173, no. 4 (October 2015): M85—M97. http://dx.doi.org/10.1530/eje-15-0209.

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Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of thePRKAR1Agene located at 17q22–24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment and molecular etiology, includingPRKAR1Amutations and the newest onPRKACAandPRKACBdefects especially as they pertain to adrenal tumors and Cushing's syndrome.

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37

Coelho Junior, Luilson Geraldo, and Débora Gonçalves da Silva. "Complexo de Carney esporádico com Schwannoma melanocítico e carcinoma papilífero de tireóide: relato de caso." Revista de Medicina 95, no. 1 (July 21, 2016): 33. http://dx.doi.org/10.11606/issn.1679-9836.v95i1p33-36.

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Complexo de Carney é uma forma rara de neoplasia endócrina múltipla familiar de herança autossômica dominante. Está associado à alteração de pigmentação cutânea e mucosa, doença nodular adrenal pigmentosa primária, mixomas cardíacos, cutâneos ou vaginais, adenomas hipofisários funcionantes, neoplasia testicular, adenoma ou carcinoma de tireóide e cistos ovarianos. Cerca de 70% dos indivíduos diagnosticados com Complexo de Carney têm pais afetados e 30% apresentam a forma esporádica da doença. O complexo de Carney esporádico é raro, o que dificulta ainda mais o diagnóstico. Apresentamos um caso de uma paciente de 24 anos com schwanoma de células fusiformes e carcinoma papilífero de tireóide, tais achados, remetem ao diagnóstico de suspeição de Complexo de Carney.

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38

Orlova, E. M., and M. A. Kareva. "Carney complex - multiple endocrine neoplasia syndrome." Problems of Endocrinology 58, no. 3 (June 15, 2012): 22–30. http://dx.doi.org/10.14341/probl201258322-30.

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Carney complex is a rare hereditary syndrome characterized by an autosomal-dominant mode of inheritance and associated with multiple neoplasias affecting endocrine organs. The typical manifestations of this syndrome include pigmented micronodular adrenal dysplasia, lentiginosis, heart and skin myxomas, giant cell sertoliomas, and some other neoplasias. To date, a few hundred patients with this pathology have been described worldwide. A review of the available data about Carney complex is presented.

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39

Ding, Hai-Xuan, Xin-Lan Zhao, Ling-Yun Huang, Yue Jiang, and Li Yang. "A New Gene Mutation of PRKAR1A was found in a Carney Complex Case." Journal of Clinical Case reports and Images 2, no. 2 (August 14, 2021): 1–8. http://dx.doi.org/10.14302/issn.2641-5518.jcci-21-3914.

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Purpose Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare bilateral adrenocortical hyperplasia, inherited in an autosomal dominant fashion, resulting in a pro-adrenocorticotropic non-dependent Cushing's syndrome. PPNAD may be isolated or associated with Carney complex (CNC). For the diagnosis of PPNAD and CNC, a search for PRKAR1A mutations may be recommended in addition to hormonal and imaging tests. The purpose of this study was to investigate the clinical features, diagnosis and treatment of the new pathogenic mutations in the PRKAR1A gene causing Carney complex. Methods We report here a case of a patient whose clinical data were retrospectively analyzed. Results The 13-year-old patient was diagnosed with Carney complex through a series of tests and a new causative gene mutation locus (C.1-2942G>A) was identified. Conclusion Carney complex is usually more difficult to be diagnosed at an early stage in the clinic, and it is beneficial for clinicians to raise awareness of the disease for early recognition and timely intervention.

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40

Carrasco, Carmen A., David Rojas-Salazar, Renato Chiorino, Juan C. Venega, and Nelson Wohllk. "MELANOTIC NONPSAMMOMATOUS TRIGEMINAL SCHWANNOMA AS THE FIRST MANIFESTATION OF CARNEY COMPLEX." Neurosurgery 59, no. 6 (December 1, 2006): E1334—E1335. http://dx.doi.org/10.1227/01.neu.0000245608.07570.d2.

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Abstract OBJECTIVE Melanotic schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic schwannomas. Half of patients with such “psammomatous melanotic schwannomas” have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1α regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic schwannoma as the first manifestation of Carney complex. CLINICAL PRESENTATION A 34-year-old woman presented with odontalgia, right V3hypoesthesia, V2paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. INTERVENTION We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 × 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. CONCLUSION We present the unusual case of a nonpsammomatous trigeminal melanotic schwannoma associated with Carney complex, with confirmed PRKAR1Agene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.

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Orlova, E. M., M. A. Kareva, E. Iu Zakharova, G. A. Poliakova, I. V. Poddubnyĭ, K. N. Tolstov, L. I. Shiriaeva, et al. "Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)." Problems of Endocrinology 58, no. 5 (October 15, 2012): 50–56. http://dx.doi.org/10.14341/probl201258550-56.

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Carney complex is a rare autosomal dominant condition that manifests itself as a combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid and breast tumours, and other neoplasms. A total of 400 patients presenting with this pathology has thus far been described worldwide. 75% of the patients with Carney complex were found to have mutations in the gene encoding for the regulatory alpha-subunit of proteinkinase A (PRKARIA). The present paper presents three cases of Carney syndrome diagnosed in adolescents. Two new mutations in the PRKARIA gene were identified (c.1111_1112insC (pp.Q370fsX11) and c.1016T>A (p.339V>D)). One of the patients had adrenal adenoma. To the best of our knowledge, it is the first case of benign adrenal tumour greater than 2 cm in size in the patient with Carney complex.

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Xiong, Meng-Jun, and Daniel C. Dim. "Conjunctival Myxoma: A Synopsis of a Rare Ocular Tumor." Archives of Pathology & Laboratory Medicine 139, no. 5 (May 1, 2015): 693–97. http://dx.doi.org/10.5858/arpa.2013-0532-rs.

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Conjunctival myxoma is an exceptionally rare, slow-growing, benign neoplasm of primitive mesenchyme origin. Forty-one cases of conjunctival myxoma from a literature review, including the authors' case, are listed. The usual clinical history is a painless mass appearing during months to years. Grossly, the tumor is a well-circumscribed, cystlike, gelatinous, yellow-to-pink, translucent-to-solid mass. Microscopically, the hypocellular tumor contains stellate- and spindle-shaped cells in a mucoid stroma with abundant hyaluronic acid mucopolysaccharides. Vimentin and α-smooth muscle actin highlight the spindle and stellate cells. S100 protein and desmin are negative for the tumor cells. Treatment is complete surgical excision, with no recurrence reported in the follow-up period. Notably, conjunctival myxoma may be associated with Carney complex, an autosomal-dominant disorder associated with skin pigmentation, endocrine abnormalities, and myxoma of the heart and eye. Physicians should appreciate this unique ocular tumor because of its potential association with Carney complex.

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Williams, Vanessa, Hadoun Jabri, and Michael G. Jakoby. "Carney Complex With Endocrine Involvement Isolated to the Thyroid Gland." Journal of the Endocrine Society 5, Supplement_1 (May 1, 2021): A992—A993. http://dx.doi.org/10.1210/jendso/bvab048.2030.

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Abstract Introduction: Carney complex is a rare autosomal dominant disorder characterized by pigmented lesions of skin and mucosae, endocrine neoplasms or overactivity, and myxomas of the heart, skin, and other organs. Most patients have at least two affected endocrine organs at time of diagnosis. We present a case of Carney complex with endocrine involvement limited to the thyroid gland. Case: A 48-year-old female was referred for evaluation of thyroid nodules incidentally discovered on imaging for submandibular salivary gland swelling. Ultrasound evaluation of the thyroid revealed numerous, bilateral nodules that were mostly cystic or spongiform, though some had irregular borders and microcalcifications. A brother with Carney complex had been diagnosed with papillary carcinoma, and the patient decided to undergo thyroidectomy. Fortunately, no thyroid carcinoma was found on postsurgical histopathology. Initial biochemical evaluation showed no evidence of hypercortisolemia (8 AM cortisol 1.7 mcg/dL on 1 mg dexamethasone suppression test; 24-h urine cortisol 26.1 mcg [reference: 4-50]), growth hormone excess (IGF-1 190 ng/mL [reference: 52-328]), or hyperprolactinemia (prolactin 10 ng/mL [reference: 2.74-26.72]). Imaging showed no pituitary or adrenal masses. The patient underwent total hysterectomy with bilateral salpingo-oophorectomy for endometrial cancer prior to referral. She was diagnosed with Carney complex at age 19 years, and her manifestations included atrial and ventricular myxomas, intraductal adenoma of the breast, multiple skin lesions (lentigines, blue nevi, and cutaneous myxomas), and myxomas of the external auditory canals. She is in a Carney complex kindred that includes her mother, two brothers, and a niece. Discussion: Carney complex is usually caused by inactivating mutations or large deletions in the protein kinase A type I alpha regulatory subunit (PRKAR1A) gene located on chromosome 17q22-24. Most mutations are inherited in an autosomal dominant manner, though approximately 30% of cases are due to de novo mutations. In a review of 365 cases, the median age at diagnosis was 20 years. Growth hormone adenomas or somatomammotroph hyperplasia occurs in approximately 75% of patients, and most have at least one additional endocrine abnormality including multinodular goiter, primary pigmented nodular adrenocortical hyperplasia, and testicular or ovarian masses. There is an approximately 10% chance of developing well differentiated thyroid carcinoma. Treatment for Carney complex is individualized depending on the patient’s presentation and includes excision or surgical removal of myxomas, neoplasms, and skin lesions, as well as regular evaluation for cardiac myxomas and endocrine overactivity. This case of Carney complex is unusual because the only endocrinopathy is multinodular goiter.

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Lonser, Russell R., Gautam U. Mehta, Bogdan A. Kindzelski, Abhik Ray-Chaudhury, Alexander O. Vortmeyer, Robert Dickerman, and Edward H. Oldfield. "Surgical Management of Carney Complex–Associated Pituitary Pathology." Neurosurgery 80, no. 5 (January 19, 2017): 780–86. http://dx.doi.org/10.1227/neu.0000000000001384.

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Abstract BACKGROUND: Carney complex (CNC) is a familial neoplasia syndrome that is associated with pituitary-associated hypersecretion of growth hormone (GH) (acromegaly). The underlying cause of pituitary GH hypersecretion and its management have been incompletely defined. OBJECTIVE: To provide biological insight into CNC-associated pituitary pathology and improve management, we analyzed findings in CNC patients who underwent transsphenoidal surgery. METHODS: Consecutive CNC patients at the National Institutes of Health with acromegaly and imaging evidence of a pituitary adenoma(s) who underwent transsphenoidal resection of tumor(s) were included. Prospectively acquired magnetic resonance imaging and biochemical, surgical, and histological data were analyzed. RESULTS: Seven acromegalic CNC patients (2 male, 5 female) were included. The mean age at surgery was 29.7 years (range, 18-44 years). The mean follow-up was 4.7 years (range, 0.2-129 months). Magnetic resonance imaging revealed a single pituitary adenoma in 4 patients and multiple pituitary adenomas in 3 patients. Whereas patients with single discrete pituitary adenomas underwent selective adenomectomy, patients with multiple adenomas underwent selective adenomectomy of multiple tumors, as well as partial or total hypophysectomy. All adenomas were either GH and prolactin positive or exclusively prolactin positive. Pituitary tissue surrounding the adenomas in patients with multiple adenomas revealed hyperplastic GH- and prolactin-positive tissue. CONCLUSION: CNC-associated acromegaly results from variable pituitary pathology, including a single GH-secreting adenoma or multiple GH-secreting adenomas and/or GH hypersecretion of the pituitary gland surrounding multiple adenomas. Although selective adenomectomy is the preferred treatment for cases of GH-secreting adenomas, multiple adenomas with associated pituitary gland GH hypersecretion may require partial or complete hypophysectomy to achieve biochemical remission.

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Korpaisarn, Sira, Objoon Trachoo, Bhakbhoom Panthan, Rangsima Aroonroch, Ronnarat Suvikapakornkul, and Chutintorn Sriphrapradang. "A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease." Case Reports in Oncology 10, no. 2 (August 16, 2017): 769–76. http://dx.doi.org/10.1159/000479585.

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Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. A small right adrenal adenoma of 0.8 cm was shown on computed tomography while magnetic resonance imaging revealed nodularity of both adrenal glands. The histological report confirmed PPNAD using laparoscopic right adrenalectomy, and subsequent left adrenalectomy was performed 6 months later. She had inherited heterozygosity of a novel germline mutation of the PRKAR1A gene (g.114213T>G or c.709-5T>G). This splice site mutation results in exon 8 skipping. Her father carrying the same mutation had no clinical features of either PPNAD or Carney complex. This novel PRKAR1A gene mutation, c.709-5T>G, is reported here for the first time manifesting as an incomplete clinical expression of the isolated form of PPNAD and being inherited with low penetrance unlike other inherited mutations of the Carney complex which have a penetrance of almost 100%.

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Halászlaki, Csaba, István Takács, Attila Patócs, and Péter Lakatos. "Novel mutation in a patient with Carney complex." Orvosi Hetilap 152, no. 20 (May 2011): 802–4. http://dx.doi.org/10.1556/oh.2011.29117.

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Carney complex is a rare disease inherited in an autosomal dominant manner. It is mostly caused by inactivating mutations of the subunit of protein kinase A. Carney complex is associated with atrial myxoma, nevi or myxomas of the skin, breast tumors and endocrine overactivity. Primary pigmented nodular adrenocortical disease is the specific endocrine manifestation. The authors present the history of a 53-year-old female patient who had undergone surgery for atrial myxomas, thyroid tumor and breast cancer. She was also operated for an adrenal adenoma causing Cushing’s syndrome. Genetic study revealed a mutation in the regulatory subunit of protein kinase A (ivs2-1G>A splice mutation in intron 2). Her heterozygous twins were also genetically screened and one of them carried the same mutation. The authors emphasize that despite the absence of specific treatment for patients with Carney complex, confirmation of the diagnosis by genetic studies is important for the close follow-up of the patient and early identification of novel manifestations. Orv. Hetil., 2011, 152, 802–804.

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Dursun, Fatma, Şeyma Meliha Su Dur, Ceyhan Şahin, Heves Kırmızıbekmez, Murat Hakan Karabulut, and Asım Yörük. "A Rare Cause of Prepubertal Gynecomastia: Sertoli Cell Tumor." Case Reports in Pediatrics 2015 (2015): 1–3. http://dx.doi.org/10.1155/2015/439239.

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Prepubertal gynecomastia due to testis tumors is a very rare condition. Nearly 5% of the patients with testicular mass present with gynecomastia. Sertoli cell tumors are sporadic in 60% of the reported cases, while the remaining is a component of multiple neoplasia syndromes such as Peutz-Jeghers syndrome and Carney complex. We present a 4-year-old boy with gynecomastia due to Sertoli cell tumor with no evidence of Peutz-Jeghers syndrome or Carney complex.

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Robinson-White, Audrey J., Ioannis Bossis, Hui-Pin Hsiao, Maria Nesterova, Wolfgang W. Leitner, and Constantine A. Stratakis. "8-Cl-Adenosine Inhibits Proliferation and Causes Apoptosis in B-Lymphocytes via Protein Kinase A-Dependent and Independent Effects: Implications for Treatment of Carney Complex-Associated Tumors." Journal of Clinical Endocrinology & Metabolism 94, no. 10 (October 1, 2009): 4061–69. http://dx.doi.org/10.1210/jc.2009-0759.

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Context: Carney complex, a multiple neoplasia syndrome, characterized primarily by spotty skin pigmentation and a variety of endocrine and other tumors, is caused by mutations in PRKAR1A, the gene that codes for the RIα subunit of protein kinase A (PKA). PKA controls cell proliferation in many cell types. The cAMP analogue 8-Cl-adenosine (8-Cl-ADO) is thought to inhibit cancer cell proliferation. Objective: The objective of the study was to study the antiproliferative effects of 8-Cl-ADO on growth and proliferation in B-lymphocytes of Carney complex patients that have PKA defects and to determine whether 8-CL-ADO could be used as a therapeutic agent in the treatment of Carney complex-associated tumors. Design: We used a multiparametric approach (i.e. growth and proliferation assays, PKA, and PKA subunit assays, cAMP and 3H-cAMP binding assays, and apoptosis assays) to understand the growth and proliferative effects of 8-Cl-ADO on human B-lymphocytes. Results: 8-Cl-ADO inhibited proliferation, mainly through its intracellular transport and metabolism, which induced apoptosis. PKA activity, cAMP levels, and 3H-cAMP binding were increased or decreased, respectively, by 8-Cl-ADO, whereas PKA subunit levels were differentially affected. 8-Cl-ADO also inhibited proliferation induced by G protein-coupled receptors for isoproterenol and adenosine, as well as proliferation induced by tyrosine kinase receptors. Conclusions: 8-Cl-ADO in addition to unambiguously inhibiting proliferation and inducing apoptosis in a PKA-independent manner also has PKA-dependent effects that are unmasked by a mutant PRKAR1A. Thus, 8-Cl-ADO could serve as a therapeutic agent in patients with Carney complex-related tumors. 8-Cl-adenosine inhibits cancer cell proliferation, and induces apoptosis in B lymphocytes of Carney complex patients by PKA-independent and dependent effects that are unmasked by a mutant PRKAR1A.

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Almeida, Madson Q. de, Maria C. B. F. Villares, and Berenice B. de Mendonça. "Complexo de Carney: relato de um caso e revisão da literatura." Arquivos Brasileiros de Endocrinologia & Metabologia 48, no. 4 (August 2004): 544–54. http://dx.doi.org/10.1590/s0004-27302004000400016.

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Complexo de Carney (CNC) pode ser definido como uma forma de neoplasia endócrina múltipla familial associada a alteração de pigmentação cutânea e de mucosa, doença nodular pigmentosa primária das adrenais, mixomas cardíacos e cutâneos, adenomas hipofisários produtores de GH e PRL, neoplasia testicular, adenoma ou carcinoma de tireóide, além de cistos ovarianos. CNC tem herança autossômica dominante e possui manifestações clínicas que são, em alguns aspectos, similares às da síndrome de McCune-Albright. Recentemente, genes envolvidos na via de sinalização dependente de AMPc foram implicados na etiologia do CNC. Vamos apresentar, inicialmente, um caso de um paciente masculino de 17 anos com doença adrenal nodular pigmentosa, lentiginose facial e osteoporose severa. A seguir, procuramos analisar os aspectos clínicos e a genética molecular do CNC, assim como descrever os critérios diagnósticos e recomendações para o seguimento.

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Pande, Shantanu, Bipin Chandra, Gauranga Majumdar, and Surendra Agarwal. "Cardiac Myxoma in a case of Carney Complex." World Journal of Endocrine Surgery 6, no. 3 (2014): 127–28. http://dx.doi.org/10.5005/jp-journals-10002-1154.

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