Neoplasia endocrina múltiple tipo 1 A propósito de un caso
Palabras clave:
neoplasia endocrina múltiple, NEM1, síndrome de Zollinger Ellison, adenohipófisis, islotes pancreáticos, paratiroidesResumen
La neoplasia endocrina múltiple tipo 1 (NEM1) es un raro síndrome hereditario, autosómico dominante, clásicamente caracterizado por tumores en varias glándulas (paratiroides, adenohipófisis e islotes pancreáticos).12
La prevalencia del NEM1 es de aproximadamente 2 por 100.000 habitantes.11
El síndrome de Zollinger Ellison (SZE) es una de las 3 neoplasias que forman parte del NEM1 y corresponde al 20 a 60% 1.
A continuación se presenta el caso clínico de un paciente de sexo masculino, 66 años de edad, con cuadro clínico de síndrome de Zollinger Ellison que, en investigación posterior, evidencia alteración funcional de las glándulas paratiroides, cumpliendo criterios diagnósticos de neoplasia endocrina múltiple tipo 1 (NEM1).
Descargas
Citas
Zollinger R EE. Primary Peptic ulcerations of the jejunum associated with islet cell tumors of the pancreas. Annals of Surgery. 1955 October;pp.1-10.
Anlauf M GNea. Sporadic versus hereditary gastrinomas of the duodenum and pancreas: Distintc clinico-pathological and epidemiological features. World J Gastroenterology. 2006 September; 14.
Sanabria C PFN. Gastrinoma. Endocrinol Nutr. 2007;54(1):21-30.
Plockinger U RG. Guidelines for the diagnosis and treatment of neuroendocrine gastrointestinal tumours. Neuroendocrinology. 2005 April.
Sinagra E PG. An unusual presentation of Zollinger Ellison Syndrome. Gastroenterology. 2013.
Donow C PM. Surgical Pathology of Gastrinoma. Cancer. 1991 September 15.
Pipeleers M SGWGFA. Gastrinomas in the duodenums of patients with multiple endocrine neoplasia type 1 and Zollinger-Ellison Syndrome. New England Journal of Medicine. 1990 March; 322(11): p. 723-727.
Settara C. Positional cloning of the gene for multiple endocrine neoplasia type 1. Science. 1997 April 18.
Manjunath G TBARea. Multiple endocrine neoplasia type 1 syndrome: single centre experience from western India. Familial Cancer. 2016 Febrary 23;: pp. 1-8.
Yuan Z CCSMea. Loss of MEN 1 activates DNMT1 implicating DNA hypermethylation as a driver of MEN 1 tumorigenesis. Oncotarget. 2016;7(11):12633-12650.
Thakker R NPWGea. Clinical practice guideline for multiple endocrine neoplasia type 1 (MEN 1). J Clin Endocrinol Metab. 2012; 97(9): p. 2990.
Brandi M GRAAea. Guidelines for diagnosis and therapy of MEN typo 1 and type 2. J Clin Endocrinol Metab. 2001; 86(12): p. 5658.
Bergsland E ea. Zollinger Ellison syndrome (gastrinoma): Clinical manifestations and diagnosis. Uptodate. 2016 Aug.
Deveney C DKea. Zollinger Ellison syndrome (gastrinoma) Current diagnosis and treatmente. Surg Clin North Am 1987;67(2):411
Meko J NJea. Management of patients with Zollinger Ellison. Annu Rev Med 1995;46:395.
Roy P VDSHea. Zollinger Ellison syndrome. Clinical presentation in 261 patients. Medicine (Baltimore). 2000;79(6):379.
Berna M HKGFea. Serum gastrin in Zollinger Ellison: I. Prospetive study of fasting serum gastrin in 309 patients from the national institutes of Health and comparison with 2229 cases from the literature. Medicine (Baltimore). 2006;85(6):295.
Nobels F KDCWea. Chromogranina A as serum maker for neuroendocrine neoplasia: comparison with neuron specific enolase and alpha subunit of glycoprotein hormones. J Clin Endocrinol Metab. 1997;82(8):2622.
Chandrasekharappa S GSMPea. Positional cloning of the gene for multiple endocrine neopasia type 1. Science. 1997;276(5311):404.
Akertrom G SPHPea. Surgical management of pancreatico duodenal tumors in multiple endocrine neoplasia syndrome type 1. Clinics. 2012;67(S1):173- 178.
Skogseig B RJAGea. Pancreatic endocrine tumors in multiple endocrine neoplasia type 1. Surgical Endocrinology. 2001;511-524.
López C WJFVea. Longterm results of surgery for pancreatic neuroendocrine neoplasia in patients with MEN 1. Langenbecks Arch Surg. 2011; 396(8):1187-1189.
Descargas
Publicado
Cómo citar
Número
Sección
Licencia
Derechos de autor 2016 Roberto Barreno, Verónica Ayala, Isabel Guamán, Nestor Basantes, Edgar Changoluisa, Margarita del Rocío Montes Moreno
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0.