Various neuroendocrine tumors in a family with multiple endocrine neoplasia type 1

Orvosi hetilap
Krisztián Sepp, Zsuzsanna Valkusz

Abstract

When multiple endocrine tumors are detected more tests are required to diagnose endocrine tumor syndromes. The authors report the case history of a patient with clinical manifestation of multiplex endocrine neoplasia type 1 (parathyroid adenoma, pancreatic neuroendocrine tumor, pituitary tumor, adrenal gland tumors and thymic neuroendocrine carcinoma). Genetic screening proved a novel stop codon mutation of the MEN1 gene in the patient and in two other members of the family. The son of the index patient showed clinical symptoms of pancreatic neuroendocrine tumor (insulinoma) and parathyroid adenoma. One of the two daughters was also positive for the same mutation, however, she had no clinical symptoms. The authors review current knowledge on the genetic background of multiple endocrine syndrome type 1, the role of menin and the usefulness of gene mutation screening.

References

Apr 2, 2011·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Paul J Newey, Rajesh V Thakker
Nov 18, 2011·The Journal of Clinical Endocrinology and Metabolism·Lucie CanaffGeoffrey N Hendy
Jun 23, 2012·The Journal of Clinical Endocrinology and Metabolism·Rajesh V ThakkerUNKNOWN Endocrine Society
Jan 3, 2013·Asia-Pacific Journal of Clinical Oncology·Richard W Carroll
Feb 9, 2013·Seminars in Oncology·Kjell Öberg
Jul 16, 2013·Trends in Biochemical Sciences·Smita MatkarXianxin Hua

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