Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: An exploratory analysis

Michael BrauckhoffH Dralle


More than 90% of M918T carriers with multiple endocrine neoplasia type 2B (MEN 2B) harbor de novo mutations in the REarranged during Transfection (RET) protooncogene. DNA-based screening for RET germline mutations is rarely useful for early diagnosis, which thus is contingent on the clinical ascertainment of MEN 2B-specific symptoms as soon as they emerge. Little information exists about the presence of these symptoms in infancy. Detailed information was gathered regarding the development of MEN 2B-associated symptoms from the parents of 25 M918T RET carriers and 50 age- and sex-matched controls with the use of a disease-specific questionnaire. Until the end of the study, at a median age of 16.2 (range, 0.5-34.9 years), all 25 M918T RET carriers had developed medullary thyroid cancer. By that time, 96%, 91%, 71%, 75%, and 28% of carriers displayed oral manifestations, ocular abnormalities, intestinal symptoms, musculoskeletal malformations, and pheochromocytoma, respectively. During the first year of life, fewer than 20% of carriers were found to express the typical MEN 2B phenotype, whereas 86% and 61% of these children, but none of the controls, were noted for their inability to cry tears and for constipation. Because the cla...Continue Reading


Oct 1, 1978·Australian and New Zealand Journal of Medicine·J A CuthbertJ R Turtle
Jun 1, 1992·Archives of Internal Medicine·H F VasenC J Lips
Mar 15, 1991·American Journal of Ophthalmology·S KinoshitaS Takai
Feb 1, 1983·The Journal of Pediatrics·B A Jones, J C Sisson
Dec 1, 1995·Surgery·D S O'RiordainJ A van Heerden
Aug 3, 2001·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·N EterM Spitznas
May 1, 2002·Annals of Surgery·Mark S CohenJeffrey F Moley
Oct 17, 2003·The New England Journal of Medicine·Andreas MachensUNKNOWN European Multiple Endocrine Neoplasia (EUROMEN) Study Group
Jun 29, 2004·Progress in Retinal and Eye Research·Michael E Johnson, Paul J Murphy
Jul 30, 2004·Clinical & Experimental Ophthalmology·Douglas G ParkerBrett A O'Donnell
Dec 16, 2005·Orbit·Jolly RohatgiM M A Faridi
Nov 15, 2006·Annals of the New York Academy of Sciences·Andreas MachensHenning Dralle
Oct 27, 2007·Annals of Surgical Oncology·Curtis J WrayDouglas B Evans
Feb 12, 2008·The Ocular Surface·Monica AlvesEduardo Melani Rocha

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Oct 21, 2010·Der Pathologe·S-Y Sheu, K W Schmid
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Mar 21, 2012·Italian Journal of Pediatrics·Giuseppe MartuccielloSergio Bernasconi
Mar 15, 2013·Current Opinion in Otolaryngology & Head and Neck Surgery·Vincent Vander PoortenPierre Delaere
May 28, 2009·Thyroid : Official Journal of the American Thyroid Association·UNKNOWN American Thyroid Association Guidelines Task ForceSamuel A Wells
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Jul 9, 2013·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·E Puerto-CarranzaC Marhuenda Irastorza
Jan 18, 2012·Seminars in Pediatric Surgery·Diana L Diesen, Michael A Skinner
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