Complejo de Carney: reporte de un caso y revisión de la literatura

  • Johnayro Gutiérrez-Restrepo Universidad de Antioquia
  • Carolina Aguilar-Londoño Clínica Las Américas
  • Carolina Prieto-Saldarriaga Hospital Pablo Tobón Uribe
Palabras clave: Acromegalia, Complejo de Carney, Mixoma, Schwannomas, Síndrome de Cushing

Resumen

El complejo de Carney es una enfermedad caracterizada por lesiones en la piel, tumores endocrinos, cardiacos, gonadales y en otros órganos, que está asociada con mutaciones del gen PRKAR1A. Presentamos el caso clínico de una paciente con varias de las manifestaciones más características de este síndrome. Finalmente, se hace una revisión de la literatura.

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Biografía del autor/a

Johnayro Gutiérrez-Restrepo, Universidad de Antioquia

Endocrinólogo. Docente del Servicio Endocrinología y Metabolismo, Universidad de Antioquia. Endocrinólogo en la Clínica Sumer y Promedan IPS, Medellín, Colombia.

Carolina Aguilar-Londoño, Clínica Las Américas

Endocrinóloga en la Clínica Las Américas y EPS SURA, Medellín, Colombia.

Carolina Prieto-Saldarriaga, Hospital Pablo Tobón Uribe

Endocrinóloga, Universidad Javeriana. Hospital Pablo Tobón Uribe, Medellín, Colombia.

Citas

(1) Carney JA, Gordon H, Carpenter PC, Shenoy BV. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine. 1985;64(4):270–83. DOI: 10.1097/00005792-198507000-00007.

(2) Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001 Sep;86(9):4041-6. DOI 10.1210/jcem.86.9.7903.

(3) Bosco Schamun MB, Correa R, Graffigna P, de Miguel V, Fainstein Day P. Carney complex review: Genetic features. Endocrinol Diabetes Nutr. 2018 Jan;65(1):52-9. DOI 10.1016/j.endinu.2017.09.006.

(4) Erratum for: Rev Chilena Infectol. 2016 Feb;33(1):98-118. DOI 10.4067/S0716-10182016000100020.

(5) Eunice Kenedy Shriver National Institute of Child Health and Human Development [Internet]. EE. UU: NLH; c2020. [Consultado 2021 10 feb]. Available from: https://prkar1a.nichd.nih.gov/hmdb/prkar1a.html

(6) Kamilaris CDC, Faucz FR, Voutetakis A, Stratakis CA. Carney Complex. Exp Clin Endocrinol Diabetes. 2019 Feb;127(2-03):156-64. DOI 10.1055/a-0753-4943.

(7) Bosco Schamun MB, Correa R, Graffigna P, de Miguel V, Fainstein Day P. Carney complex review: Genetic features. Endocrinol Diabetes Nutr. 2018 Jan;65(1):52-9. DOI 10.1016/j.endinu.2017.09.006.

(8) Bertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006 Jun 6;1:21. DOI 10.1186/1750-1172-1-21.

(9) Boikos SA, Stratakis CA. Carney complex: the first 20 years. Curr Opin Oncol. 2007 Jan;19(1):24-9. DOI 10.1097/CCO.0b013e32801195eb.

(10) Leventhal JS, Braverman IM. Skin Manifestations of Endocrine and Neuroendocrine Tumors. Semin Oncol. 2016;43(3):335-40. DOI 10.1053/j.seminoncol.2016.02.022.

(11) Bossis I, Stratakis CA. Minireview: PRKAR1A: normal and abnormal functions. Endocrinology. 2004 Dec;145(12):5452-8. DOI 10.1210/en.2004-0900.

(12) Schernthaner‐Reiter MH, Trivellin G, Stratakis CA. MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics. Neuroendocrinology. 2016;103(1):18-31. DOI 10.1159/000371819.

(13) Rothenbuhler A, Stratakis CA. Clinical and molecular genetics of Carney complex. Best Pract Res Clin Endocrinol Metab. 2010;389e399. DOI 10.1016/j.beem.2010.03.003.

(14) Borkar SS, Kamath SG, Kashyap N, Sagar SC, Rao L, Warrier R, Chauhan A. Carney Complex: case report and review. J Cardiothorac Surg. 2011 Mar 5;6:25. DOI 10.1186/1749-8090-6-25.

(15) Ando T, Goto H, Date K, Okada H, Takeda M, Kasahara K. Recurrence of cardiac myxoma in the right atrium with Carney complex following resection of myxomas in both ventricles. Gen Thorac Cardiovasc Surg. 2019 Oct;67(10):891-3. DOI 10.1007/s11748-018-0984-0.

(16) Sardar MR, Lahoti A, Khaji A, Saeed W, Maqsood K, Zegel HG, Romanelli JE, McGeehin FC 3rd. Recurrent right ventricular cardiac myxoma in a patient with Carney complex: a case report. J Med Case Rep. 2014 May 2;8:134. DOI 10.1186/1752-1947-8-134.

(17) Lee E, Mahani MG, Lu JC, Dorfman AL, Srinivasan A, Agarwal PP. Primary cardiac tumors associated with genetic syndromes: a comprehensive review. Pediatr Radiol. 2018;48:156-64. DOI 10.1007/s00247-017-4027-2.

(18) Jain S, Maleszewsk JJ, Stephenson CR, Klarich KW. Current diagnosis and management of cardiac myxomas. Expert Rev. Cardiovasc. Ther. 2015;13(4),369-75. DOI 10.1586/14779072.2015.1024108.

(19) Konecny T, Reeder G, Peter A. Noseworthy PA, Konecny D, Carney JA, Asirvatham SJ. Percutaneous Ablation and Retrieval of a Right Atrial Myxoma. Heart Lung Circ. 2014;23(11):e244-7. DOI 10.1016/j.hlc.2014.07.059.

(20) Wei K, Guo HW, Fan SY, Sun XG, SS Hu. Clinical features and surgical results of cardiac myxoma in Carney complex. J Card Surg. 2019;1–6. DOI 10.1111/jocs.13980.

(21) Yang B, Ma Y, Hua Y, Xu D, Zhang K, Zhao L, et al. Teaching NeuroImages: Internal carotid artery stenosis due to myxoma in a patient with Carney complex. Neurology. 2018;91:e884-5. DOI 10.1212/WNL.0000000000006078.

(22) Naito Y, Mori J, Tazoe J, Tomida A, Yagyu S, Nakajima H, et al. Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report. Endocr J. 2019 Dec 25;66(12):1117-23. DOI 10.1507/endocrj.EJ19-0183.

(23) Tirosh A, Valdés N, Stratakis CA. Genetics of micronodular adrenal hyperplasia and Carney complex. Presse Med. 2018;47(7-8Pt2):e127-37. DOI 10.1016/j.lpm.2018.07.005.

(24) Lowe MK, Young Jr WF, Lyssikatos C, Stratakis CA, Carney JA. Cushing Syndrome in Carney Complex: Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients. Am J Surg Pathol. 2017;41(2):171-81. DOI 10.1097/PAS.0000000000000748.

(25) Rosenblum F, Koenig RG, Mikhail FM, Porterfield JR, Nix JW, Eltoum IE. An Adolescent with Large Cell Calcifying Sertoli Cell Tumor of the Testis and Undiagnosed Carney Complex. A Case Report. Diagn Cytopathol. 2017;45(7):634-9. DOI 10.1002/dc.23700.

(26) Kiefer FW, Winhofer Y, Iacovazzo D, Korbonits M, Wolfsberger S, Knosp E, et al. PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex. Eur J Endocrinol. 2017;177(2):K7-K12. DOI 10.1530/EJE-17-0227.

(27) Carney JA, Libe´ R, Bertherat JMD, Young WF. Primary Pigmented Nodular Adrenocortical Disease. The Original 4 Cases Revisited After 30 Years for Follow-up, New Investigations, and Molecular Genetic Findings. Am J Surg Pathol. 2014.38(9):1266-73. DOI 10.1097/PAS.0000000000000220.

(28) Sikorska D, Bednarek-Papierska L, Mojs E, Makowska E, Ruchała M, Samborski W. Bilateral Primary Pigmented Nodular Adrenal Disease as a Component of Carney Syndrome - Case Report. Endokrynol Pol. 2017;68(1):70-2. DOI 10.5603/EP.2017.0008.

(29) Campo MR, Lamacchia O, Farese A, Conserva A, Picca G, Grilli G, et al. Mitotane and Carney Complex: ten years follow-up of a low-dose mitotane regimen inducing a sustained correction of hypercortisolism. Hormones. 2015;14(2):300-4. DOI 10.14310/horm.2002.1514.

(30) Rojo ÁJ, Martínez de Esteban JP, Pineda Arribas JJ, Ollero MD, Munárriz Alcuaz P. Acromegaly in a patient with Carney's complex. Endocrinol Nutr. 2013;60(5):277-8. DOI 10.1016/j.endoen.2012.06.013.

(31) Rostomyan L, Beckers A. Screening for genetic causes of growth hormone hypersecretion. Growth Horm IGF Res. 2016;30-31:52-7. DOI 10.1016/j.ghir.2016.10.004.

(32) Cuny T, Mac TT, Romanet P, Dufour H, Morange I, Albarel F, et al. Acromegaly in Carney complex. Pituitary. 2019 Oct;22(5):456-66. DOI 10.1007/s11102-019-00974-8.

(33) Boikos SA, Stratakis CA. Pituitary pathology in patients with Carney complex: growth-hormone producing hyperplasia or tumors and their association with other abnormalities. Pituitary. 2006;9:203-9. DOI 10.1007/s11102-006-0265-2.

(34) Stergiopoulos SG, Abu-Asab MS, Tsokos M, et al. Pituitary Pathology in Carney Complex Patients. Pituitary. 2004;7:73–82. DOI 10.1007/s11102-005-5348-y.

(35) Watson JC, Stratakis CA, Bryant-Greenwood PK, Koch CA, Kirschner LS, Nguyen T, et al. Neurosurgical implications of Carney complex. J Neurosurg. 2000;92:413-8. DOI 10.3171/jns.2000.92.3.0413.

(36) Pecori GF, Fatti LM, Bertola G, Balza G, Lavezzi E, Pesce S, et al. Carney's complex with Acromegaly as the leading condition. Clin Endocrinol (Oxf). 2008;68(2):322-4. DOI 10.1111/j.1365-2265.2007.03024.x.

(37) Hannah-Shmouni F, Trivellin G, Stratakis CA. Genetics of Gigantism and Acromegaly. Growth Horm IGF Res. 2016;30-1:37-41. DOI 10.1016/j.ghir.2016.08.002.

(38) Lonser RR, Mehta GU, Kindzelski BA, Ray-Chaudhury A, Vortmeyer AO, Dickerman R, et al. Surgical management of Carney complex–associated pituitary pathology. Neurosurgery. 2017;80:780-6. DOI 10.1227/NEU.0000000000001384.

(39) Sasakia A, Horikawa Y, Suwaa T,Shin-ichi ME, Takeda K. Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A. Mol Genet Metab. 2008;95:182-7. DOI 10.1016/j.ymgme.2008.07.009.

(40) Gorman P, Hewer RL. Stroke due to atrial myxoma in a young woman with co-existing acoustic neuroma and pituitary adenoma. J Neurol Neurosurg Psychiatry. 1985;48:718-9. DOI 10.1136/jnnp.48.7.718.

(41) Bandettini WP, Karageorgiadis AS, Sinaii N, Rosing DR, Sachdev V, Schernthaner-Reiter MH, et al. Growth Hormone and Risk for Cardiac Tumors in Carney Complex. Endocr Relat Cancer. 2016;23(9):739-46. DOI 10.1530/ERC-16-0246.

(42) Nagata Y, Inoshita N, Fukuhara N, Yamaguchi‑Okada M, Nishioka H, Takeo Iwata. Growth hormone-producing pituitary adenomas in childhood and young adulthood: clinical features and outcomes. Pituitary. 2018;21:1-9. DOI 10.1007/s11102-017-0836-4.

(43) Carney JA, Lyssikatos C, Seethala RR, Lakatos P, Perez-Atayde A, Lahner H, et al. The Spectrum of Thyroid Gland Pathology in Carney Complex: The Importance of Follicular Carcinoma. Am J Surg Pathol. 2018;42(5):587-94. DOI 10.1097/PAS.0000000000000975.

(44) Crocker MK, Gourgari E, Lodish M, Stratakis CA. Use of Aromatase Inhibitors in Large Cell Calcifying Sertoli Cell Tumors: Effects on Gynecomastia, Growth Velocity, and Bone Age. JCEM. 2014;99(12):E2673-80. DOI 10.1210/jc.2014-2530.

(45) Gourgari E, Saloustros E, Stratakis CA. Large-cell calcifying Sertoli cell tumors of the testes in Pediatrics Curr Opin Pediatr. 2012;24(4):518-22. DOI 10.1097/MOP.0b013e328355a279.

(46) Siordia JA. Medical and Surgical Management of Carney Complex. J Card Surg. 2015;30:560-7. DOI: 10.1111/jocs.12575.

(47) Stratakis CA, Papageorgiou T, Premkumar A, Pack S, Kirschner LS, Taymans SE, et al. Ovarian lesions in Carney complex: clinical genetics and possible predisposition to malignancy. The Journal of clinical endocrinology and metabolism, 2000;85(11),4359-66. DOI 10.1210/jcem.85.11.6921.

(48) DeLair DF, Soslow RA. Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes. Surgical Pathology. 2016;9:269-87. DOI 10.1016/j.path.2016.01.008.

(49) Shanmugam S, Ghosh M, Niamathullah S, Ghosh S. Psammomatous Melanotic Schwannoma as a Component of Carney Complex. Indian J Pathol Microbiol. 2015;58(3):368-70. DOI 10.4103/0377-4929.162903.

(50) Hilton DA, Hanemann CO. Schwannomas and Their Pathogenesis. Brain Pathology. 2014;(24):205-20. DOI 10.1111/bpa.12125.

(51) Sarfo A, Helm K, Flamm A. Cutaneous myxomas and a psammomatous melanotic schwannoma in a patient with Carney complex. J Cutan Pathol. 2019;46:93-6. DOI 10.111/cup.13385.

(52) Liu Q, Tong D, Liu G, Yi Y, Zhang D, Zhang J, et al. Carney complex with PRKAR1A gene mutation A case report and literature review. Medicine. 2017;96:50. DOI 10.1097/MD.0000000000008999.

(53) Stratakis CA. Carney Complex: a familial lentiginosis predisposing to a variety of tumors. Rev Endocr Metab Disord. 2016;17(3):367-71. DOI 10.1007/s11154-016-9400-1.

Publicado
2021-06-25
Cómo citar
1.
Gutiérrez-Restrepo J, Aguilar-Londoño C, Prieto-Saldarriaga C. Complejo de Carney: reporte de un caso y revisión de la literatura. Iatreia [Internet]. 25 de junio de 2021 [citado 26 de septiembre de 2021];1(1). Disponible en: https://revistas.udea.edu.co/index.php/iatreia/article/view/346628
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Presentación de casos