title: Medullary thyroid carcinoma in ethnic Chinese with MEN2A: a case report and literature review.
abstract: Medullary Thyroid Carcinoma (MTC) is the most common cause of death in MEN patients. It is curative by prophylactic total thyroidectomy, but controversies remain as to the optimal timing for prophylactic thyroidectomy. The current recommendation is for prophylactic total thyroidectomy before age 5, but a recent study suggested that in the ethnic Chinese, even "high risk" mutations did not result in early malignant change, and it was suggested that prophylactic thyroidectomy may be performed at a later age. We report a case of an ethnic Chinese girl with MEN2A codon 634 (C634R) mutation, whose operative specimen at prophylactic thyroidectomy at 4 years 8 months showed MTC. We advocate that management of MEN2A patients should be codon-directed, regardless of ethnicity.
authors: Department of Paediatric Surgery, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore S229899, Singapore.
authors: Yirong
authors: Y
authors: Sim
authors: Fabian
authors: F
authors: Yap
authors: Khee Chee
authors: KC
authors: Soo
authors: Yee
authors: Y
authors: Low
mesh_terms: D044466:Asian People; D018278:Carcinoma, Neuroendocrine; D002675:Child, Preschool; D002681:China; D005260:Female; D005819:Genetic Markers; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000208:ethnology / Q000235:genetics / Q000601:surgery*; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D013964:Thyroid Neoplasms / Q000208:ethnology / Q000235:genetics / Q000601:surgery*; D013965:Thyroidectomy
chemical_list: D005819:Genetic Markers; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human