Historia de la Endocrinologia-El primer caso de feocromocitoma

El feocromocitoma y el paraganglioma son tumores neuroendocrinos derivados de las células cromafines. El feocromocitoma está ubicado en la médula suprarrenal y el paraganglioma en los paraganglios. Esta enfermedad tiene un componente genético importante. Se considera infrecuente. En este artículo se presenta la historia del primer paciente reportado con feocromocitoma. Se trata de una mujer de 18 años alemana con palpitaciones, taquicardia, retinopatía hipertensiva, constipación y crisis de pánico que falleció en el Hospital de Friburgo de Brisgovia, en Alemania. La autopsia demostró la presencia de tumores adrenales bilaterales, 120 años después se confirmó la presencia de mutaciones en el proto-oncogen RET y los familiares de la paciente tenían feocromocitoma y carcinoma medular de tiroides. El primer caso conocido de feocromocitoma fue bilateral y secundario a una neoplasia endocrina múltiple tipo 2.

Abstract

Pheochromocytoma and paraganglioma are neuroendocrine tumors arising from chromafin cells. Pheochromocytoma is located in the adrenal medulla and paraganglioma are located in the paraganglioma. This disease has a strong genetic component. It is a very rare disease. In this manuscript, the history of the first known report of pheochromocytoma is presented. An18-year-old woman from Germany presents with palpitations, tachycardia, hypertensive retinopathy, constipation and panic attacks. The patient died at the Freiburg Hospital in Germany. The autopsy showed the presence of bilateral adrenal tumor. A mutation in the proto-oncogen RET was demonstrated 120 years later. Relatives of the patient had pheochromocytoma and medullary thyroid carcinoma. The first known case of pheochromocytoma had bilateral disease secondary to multiple endocrine neoplasia type 2.

1. Baudin E, Habra MA, Deschamps F, Cote G, Dumont F, Cabanillas M, et al. Therapy of endocrine disease: treatment of malignant pheochromocytoma and paraganglioma. Eur J Endocrinol. 2014;171(3):R111-22.
2. Ayala-Ramirez M, Feng L, Johnson MM, Ejaz S, Habra MA, Rich T, et al. Clinical risk factors for malignancy and overall survival in patients with pheochromocytomas and sympathetic paragangliomas: primary tumor size and primary tumor location as prognostic indicators. J Clin Endocrinol Metab. 2011;96(3):717-25.
3. Pinzon-Tovar A, Diaz EM, Motta OY, Castro M. Nuevos casos de feocromocitoma en el Hospital Universitario de Neiva Revista Colombiana de Endocrinología, Diabetes y Metabolismo. 2015;2(3):63-70.
4. Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014;14(2):108-19.
5. L P. Das Ganglioma embryonale sympathicum (Sympathoma embryonale). Berl Klin Wschr 1912;49:16-22
6. Manger WM. An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges. Ann N Y Acad Sci. 2006;1073:1-20.
7. F F. Ein Fall von doppelseitigem, völlig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veränderungen am Circulationsapparat und Retinitis. Arch Pathol Anat Physiol Klin Med 1886;103:244-63
8. Classics in oncology. A case of bilateral completely latent adrenal tumor and concurrent nephritis with changes in the circulatory system and retinitis: Felix Fränkel, 1886. CA Cancer J Clin. 1984;34(2):93-106.
9. Cotesta D, Petramala L, Serra V, Pergolini M, Crescenzi E, Zinnamosca L, et al. Clinical experience with pheochromocytoma in a single centre over 16 years. High Blood Press Cardiovasc Prev. 2009;16(4):183-93.
10. Zelinka T, Petrák O, Turková H, Holaj R, Strauch B, Kršek M, et al. High incidence of cardiovascular complications in pheochromocytoma. Horm Metab Res. 2012;44(5):379-84.
11. Thosani S, Ayala-Ramirez M, Roman-Gonzalez A, Zhou S, Thosani N, Bisanz A, et al. Constipation: An Overlooked, Unmanaged Symptom of Patients with Pheochromocytoma and Sympathetic Paraganglioma. Eur J Endocrinol. 2015.
12. Bravo EL. Pheochromocytoma: new concepts and future trends. Kidney Int. 1991;40(3):544-56.
13. Mishra AK, Agarwal G, Kapoor A, Agarwal A, Bhatia E, Mishra SK. Catecholamine cardiomyopathy in bilateral malignant pheochromocytoma: successful reversal after surgery. Int J Cardiol. 2000;76(1):89-90.
14. Coupez E, Eschalier R, Pereira B, Pierrard R, Souteyrand G, Clerfond G, et al. A single pathophysiological pathway in Takotsubo cardiomyopathy: Catecholaminergic stress. Arch Cardiovasc Dis. 2014;107(4):245-52.
15. Agarwal G, Mishra AK, Kapoor A, Agarwal A, Bhatia E, Mishra SK. Reversal of catecholamine induced cardiomyopathy in a patient with bilateral malignant pheochromocytoma. J Assoc Physicians India. 2001;49:1193-6.
16. Kassim TA, Clarke DD, Mai VQ, Clyde PW, Mohamed Shakir KM. Catecholamine-induced cardiomyopathy. Endocr Pract. 2008;14(9):1137-49.
17. Sibal L, Jovanovic A, Agarwal SC, Peaston RT, James RA, Lennard TW, et al. Phaeochromocytomas presenting as acute crises after beta blockade therapy. Clin Endocrinol (Oxf ). 2006;65(2):186-90.
18. Booth J. A short history of blood pressure measurement. Proc R Soc Med. 1977;70(11):793-9.
19. Waguespack SG, Rich T, Grubbs E, Ying AK, Perrier ND, Ayala-Ramirez M, et al. A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2010;95(5):2023-37.
20. Neumann HP, Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A, et al. Evidence of MEN-2 in the original description of classic pheochromocytoma. N Engl J Med. 2007;357(13):1311-5.
21. Favier J, Amar L, Gimenez-Roqueplo AP. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol. 2015;11(2):101-11.
22. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287(5454):848-51.
23. Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet. 2010;42(3):229-33.
24. Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res. 2012;18(10):2828-37.
25. Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet. 2011;43(7):663-7.
26. Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, et al. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet. 2014;23(9):2440-6.
27. Comino-Méndez I, de Cubas AA, Bernal C, Álvarez-Escolá C, Sánchez-Malo C, Ramírez-Tortosa CL, et al. Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis. Hum Mol Genet. 2013;22(11):2169-76.
28. Cascón A, Comino-Méndez I, Currás-Freixes M, de Cubas AA, Contreras L, Richter S, et al. Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J Natl Cancer Inst. 2015;107(5).
29. DeLellis R, Lloyd R, Heitz P, C E. World Health Organization Classification of Tumours. Pathology and Genetics of Tumors of Endocrine Organs. Lyon: IARCS Press; 2004.
30. Jimenez C, Pryma DA, Sullivan DC, Schwarz JK, Noto RB, Stambler N, et al. Long Term Follow-up of a Pivotal Phase 2 Study of Ultratrace® Iobenguane I-131 (AZEDRATM) in Patients with Malignant Relapsed/Refractory Pheochromocytoma (Pheo)/Paraganglioma (Para). Endocrine Reviews. 2015;36(2):OR24-6.

Feocromocitoma
paraganglioma
metanefrinas
Pheochromocytoma
metanephrines
multiple endocrine neoplasia
neoplasia endocrina múltiple