PMID: 9681852Jul 29, 1998Paper

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease

Journal of Internal Medicine
G RomeoG Martucciello


In a few patients with Hirschsprung disease (HSCR) and no clinical symptoms of multiple endocrine neoplasia type 2 (MEN-2A) or medullary thyroid carcinoma (MTC), missense mutations in the cysteine residues 609 and 620 of the Ret gene have been identified. In several pedigrees with either MEN-2A or familial MTC (FMTC) a documented germline mutation in cysteine 618 or 620 follows the segregation of the disease phenotype. The appearance of the HSCR phenotype in such patients and pedigrees cannot be easily reconciled with the gain of function which is associated with the dominant oncogenic effect of MEN-2A mutations. Gastrointestinal manifestations are known to occur also in association with MEN-2B but, to the best of our knowledge, in only very few cases the intestinal phenotype of MEN-2B has been investigated by enzymo-histochemical techniques, as in the present work. We report an extensive molecular study of patients, two with HSCR and FMTC carrying a Cys620Arg or Ser mutation and two with MEN-2B and gastrointestinal symptoms carrying a Met918Thr mutation. One of the latter two patients showed aganglionosis of the last 5 cm of rectum which caused a congenital megacolon leading to the diagnosis and operation for HSCR. The mutatio...Continue Reading


May 1, 1988·Pediatric Neurology·D NarawongS Kotagal
Jan 1, 1982·Journal of Pediatric Gastroenterology and Nutrition·M VerdyP Brochu
May 1, 1995·Human Molecular Genetics·M AngristA Chakravarti
Dec 1, 1994·Australian and New Zealand Journal of Medicine·J R BurgessT M Greenaway
Dec 1, 1994·Human Molecular Genetics·L M MulliganA Safar
Aug 1, 1994·Nature Genetics·G Romeo, V A McKusick
Jan 1, 1994·Human Mutation·R Fodde, M Losekoot
Apr 1, 1996·Trends in Genetics : TIG·B PasiniG Romeo
Jan 1, 1996·European Journal of Human Genetics : EJHG·L YinG Romeo
Jul 29, 1998·Journal of Internal Medicine·B T Teh
Mar 1, 1964·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·M J KARNOVSKY, L ROOTS

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