Japanese Journal of National Medical Services
Online ISSN : 1884-8729
Print ISSN : 0021-1699
ISSN-L : 0021-1699
A FAMILY WITH MULTIPLE ENDOCRINE NEOPLASIA 2A
Yoshiyuki USUI, Ryuichiro KOSHIMUNE, Hidetoshi INOKAWA, Eiji SUZUKI, Shuichi NOMURA, Sumiji SASAKI
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Keywords: MEN 2A, Hirschsprung' disease, RET proto-oncogene
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2000 Volume 54 Issue 4 Pages 176-178

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Abstract
A family with MEN2 A was reported. This family included nine cases of the thyroid cancer, in which five cases of the medullary thyroid carcinoma were diagnosed. Among five one case had the pheochromocytoma. The propositus was operated for Hirschsprung's disease in infancy and was operated for the medullary thyroid carcinoma at the age of 23. A DNA analysis of the propositus revealed a mutation at codon 618 of exon 10. Periodic biochemical tests and DNA analyses might be nesessary for this family.
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