Literature DB >> 16099853

Multiple endocrine neoplasia type 2A in a kindred with C634Y mutation.

Malaka B Jackson1, Marta Guttenberg, Holly Hedrick, Thomas Moshang.   

Abstract

Multiple endocrine neoplasia type 2A (MEN 2A) is most frequently caused by codon 634 activating mutations. Medullary thyroid carcinoma has occurred before the age of 2, with pheochromocytomas and primary hyperparathyroidism occurring later in childhood. We report cases of 4 siblings with C634Y-positive MEN 2A (all <11 years old): 3 with medullary thyroid carcinoma (1 had nodal metastasis, and another had a parathyroid adenoma) and 1 with C-cell hyperplasia.

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Year:  2005        PMID： 16099853     DOI： 10.1542/peds.2005-0033

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


  2 in total

Review 1.  Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.

Authors:  Samuel A Wells; Sylvia L Asa; Henning Dralle; Rossella Elisei; Douglas B Evans; Robert F Gagel; Nancy Lee; Andreas Machens; Jeffrey F Moley; Furio Pacini; Friedhelm Raue; Karin Frank-Raue; Bruce Robinson; M Sara Rosenthal; Massimo Santoro; Martin Schlumberger; Manisha Shah; Steven G Waguespack
Journal:  Thyroid       Date:  2015-06       Impact factor: 6.568

2.  First description of parathyroid disease in multiple endocrine neoplasia 2A syndrome.

Authors:  James C Sisson; Thomas J Giordano; Victoria M Raymond; Gerard M Doherty; Stephen B Gruber
Journal:  Endocr Pathol       Date:  2008       Impact factor: 3.943
  2 in total

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