PMID: 19169500Jan 27, 2009Paper

Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians

Arquivos brasileiros de endocrinologia e metabologia
Cleber P CamachoRui M B Maciel

Abstract

The hereditary form of medullary thyroid carcinoma may occur isolated as a familial medullary thyroid carcinoma (FMTC) or as part of Multiple Endocrine Neoplasia 2A (MEN2A) and 2B (MEN2B). MEN2B is a rare syndrome, its phenotype may usually, but not always, be noted by the physician. In the infant none of the MEN2B characteristics are present, except by early gastrointestinal dysfunction caused by intestinal neuromas. When available, genetic analysis confirms the diagnosis and guides pre-operative evaluation and extent of surgery. Here we report four cases of MEN2B in which the late diagnosis had a significant impact in clinical evolution and, potentially, in overall survival. We report four cases, 2 men and 2 women, with differences in their phenotypes and with a late diagnosis. The first case has a history of severe gastrointestinal obstruction requiring a surgery intervention two days after his birth. The second told had nodules in the oral mucosa and constipation since childhood. The third case referred a history of constipation from birth until 5 months of life. The fourth has had a history of chronic constipation since childhood. New concepts have emerged since the RET oncogene was identified in 1993 as the responsible ge...Continue Reading

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Citations

Mar 21, 2012·Italian Journal of Pediatrics·Giuseppe MartuccielloSergio Bernasconi
Jul 1, 2014·Journal of Comparative Pathology·M F SheleyA Mete
Dec 3, 2014·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·Robert Bruce MacIntoshMichael Lee
May 25, 2013·Journal of Pediatric Surgery·Mika A B MatthewsGail E Besner
Nov 22, 2011·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Yu UsamiSatoru Toyosawa
Jul 13, 2016·United European Gastroenterology Journal·Denys GibbonsDeborah Eckert
Nov 4, 2016·Endocrine-related Cancer·M Cecília Martins-CostaRui M B Maciel
Aug 25, 2011·Nature Reviews. Endocrinology·Steven G WaguespackGilbert J Cote
Jan 19, 2021·Journal of Oral and Maxillofacial Pathology : JOMFP·Deepak Singh NingombamTulsidas Singh Wahengbam

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