Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation

Surgery
G L FeldmanC E Jackson

Abstract

Multiple endocrine neoplasia type 2 (MEN 2) and familial medullary thyroid carcinoma (FMTC) are autosomal dominantly inherited cancer syndromes that predispose to C-cell hyperplasia and MTC. MEN 2A and FMTC are caused by mutations in the RET proto-oncogene. We used a multiplex polymerase chain reaction-based assay to screen exons 10, 11, 13, and 14 of RET for mutations in 2 families with FMTC. We correlated mutation status with calcitonin and pathologic studies to determine genotype-phenotype correlations. We identified a mutation in codon 804 in exon 14 (GTG-->ATG; V804M) in both families. An 86-year-old person who was a gene carrier and other individuals over age 70 who were suspected by pedigree analysis to be gene carriers had no overt clinical evidence of MTC. Four of 21 patients who underwent a thyroidectomy also had papillary thyroid cancer. One individual in each family had metastatic MTC at age 30 and 32 years, and all 26 people having thyroidectomies had either MTC or C-cell hyperplasia, leading us to continue to recommend prophylactic thyroidectomy for all identified patients who were gene carriers. Because of active MTC in younger members of these families, including metastases, we have continued to advocate thyroid...Continue Reading

References

Jun 1, 1976·Oral Surgery, Oral Medicine, and Oral Pathology·J A CarneyS A Lovestedt
Jul 1, 1993·Human Molecular Genetics·H Donis-KellerS A Wells
Dec 1, 1995·Human Molecular Genetics·P A SmanikS M Jhiang
Jul 29, 1998·Journal of Internal Medicine·C E Jackson
May 11, 1999·JAMA : the Journal of the American Medical Association·O NilssonC Eng

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Citations

Dec 12, 2003·Surgery·Patricia Niccoli-SireUNKNOWN Groupe D'étude Des Tumeurs Endocrines
Feb 13, 2001·Cancer Letters·O Gimm
Nov 20, 2003·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·A BoérO Esik
Apr 29, 2005·The Journal of Molecular Diagnostics : JMD·Syed A AhmedRong Mao
May 3, 2005·Nature Reviews. Cancer·Stephen J Marx
Oct 17, 2003·The New England Journal of Medicine·Andreas MachensUNKNOWN European Multiple Endocrine Neoplasia (EUROMEN) Study Group
Aug 24, 2002·Thyroid : Official Journal of the American Thyroid Association·Michael BrauckhoffHenning Dralle
Jul 21, 2005·Thyroid : Official Journal of the American Thyroid Association·Maria A KouvarakiDouglas B Evans
Feb 24, 2007·Thyroid : Official Journal of the American Thyroid Association·Giovanni PinnaStefano Mariotti
May 19, 2009·Thyroid : Official Journal of the American Thyroid Association·Amy E RothbergJames Sisson
Feb 12, 2011·Thyroid : Official Journal of the American Thyroid Association·Ehsan AlvandiMehrdad Pedram
Jan 10, 2001·Current Opinion in Oncology·O Alsanea, O H Clark
May 10, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jessica Moline, Charis Eng
Dec 21, 2004·Journal of Internal Medicine·A MachensH Dralle
Apr 26, 2006·Pathology International·Naoya AsaiMasahide Takahashi
May 28, 2009·Annals of Surgical Oncology·Daniel CalvaJames R Howe
Mar 13, 2014·Thyroid : Official Journal of the American Thyroid Association·Thereasa A RichElizabeth Grubbs
Sep 24, 2004·The British Journal of Surgery·H GibelinJ-L Kraimps
Mar 19, 2008·Current Problems in Surgery·Elizabeth G GrubbsDouglas B Evans
Mar 26, 2003·Journal of Cellular Physiology·Luisella AlbertiMarco A Pierotti
Jul 4, 2006·ANZ Journal of Surgery·Jessica E GosnellLeigh W Delbridge
Apr 24, 2015·Journal of Endocrinological Investigation·B FebreroP Parrilla
Jun 29, 2005·Cytokine & Growth Factor Reviews·Elena ArighiHannu Sariola
Jul 27, 2015·Endocrine Pathology·Kinjal ShahRobert J Anderson
Jan 23, 2014·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Andreas G MoraitisKarel Pacak
Apr 25, 2003·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·T KahramanJ Th M Plukker
Jan 24, 2013·Journal of Korean Medical Science·Young Sik ChoiShinya Uchino
Aug 20, 2016·Endocrine Pathology·Ying-Hsia Chu, Ricardo V Lloyd
Feb 6, 2008·Clinical Endocrinology·Karin Frank-RaueUNKNOWN German MEN2 Study Group
Jun 6, 2003·The Journal of Clinical Endocrinology and Metabolism·Marcia K PuñalesAna Luiza Maia

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