RET germline mutation in codon 791 in a family representing 3 generations from age 5 to age 70 years: should thyroidectomy be performed?

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists
Volker F H BrauerChristian A Koch

Abstract

To describe a kindred with a rare RET germline mutation in codon 791 and discuss potential management strategies. We present clinical and biochemical data as well as results of mutation analysis in our study subjects and provide an overview of related published reports. Multiple endocrine neoplasia type 2 (MEN 2) is a familial cancer syndrome characterized by the development of medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia or adenoma. Germline mutations in RET are responsible for this autosomal dominant syndrome. Familial MTC is a variant of MEN 2A and can be caused by RET mutations in codon 791. Deaths from gene carriers with mutations in these codons have not yet been reported. In general, gene carriers with these RET mutations have late-onset MTC. Because only a few kindreds with this specific mutation have been identified and no long-term follow-up data are available, management of these patients can be a challenge. We illustrate the difficulties with decisions about not only when to perform thyroidectomy in these patients but also whether thyroidectomy should even be considered in such gene carriers with a benign course. Our reported kindred included four carriers with a codon 791 RET ger...Continue Reading

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Citations

May 11, 2005·Familial Cancer·Christian A Koch
Mar 26, 2011·International Journal of Pediatric Endocrinology·M Sara Rosenthal, Douglas S Diekema
May 19, 2006·BMC Cancer·Christian A KochRalf Paschke
Mar 13, 2014·Thyroid : Official Journal of the American Thyroid Association·Thereasa A RichElizabeth Grubbs
May 8, 2007·World Journal of Surgery·Peter VestergaardPeer Christiansen
Aug 27, 2010·The American Journal of the Medical Sciences·Tsunenori SaitoYasuhiro Takeuchi
Mar 10, 2017·Thyroid : Official Journal of the American Thyroid Association·Karine C RodriguesDelmar M Lourenço
Jul 4, 2012·JPEN. Journal of Parenteral and Enteral Nutrition·M Molly McMahonUNKNOWN American Society for Parenteral and Enteral Nutrition
Jan 16, 2019·Journal of Surgical Oncology·Sanne Høxbroe MichaelsenJes Sloth Mathiesen
Jan 23, 2014·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Isabel HuguetAshley B Grossman
Jul 14, 2007·Quality Management in Health Care·L Raymond ReynoldsRichard P Lofgren
Dec 13, 2016·Reviews in Endocrine & Metabolic Disorders·Constantine A Stratakis
Oct 8, 2018·Reviews in Endocrine & Metabolic Disorders·Sergio Pedraza-ArévaloJusto P Castaño
Nov 23, 2016·Reviews in Endocrine & Metabolic Disorders·Fady Hannah-ShmouniChristian A Koch

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