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Original ArticleOpen Access
A RET C634R Mutation in a Thai Female with Multiple Endocrine Neoplasia Type 2A
Sunthomyothin S 
,
Sinthuwiwat T ,
Shotelersuk V
,
Sinthuwiwat T ,
Shotelersuk V SARA T SUNTHORNYOTHIN, MD*,
THIVARATANA SINTHUWIWAT,BSc**,
VORASUK SHOTELERSUK, MD**
Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant disorder charac-
terized by medullary thyroid carcinoma, pheochromocytoma and primary hyperparathyroidism. The
first tumor is usually a medullary thyroid carcinoma. MEN 2A is caused by mutations in the
RET
proto-oncogene. The detection of mutations in the gene has important diagnostic and therapeutic
impacts. Genetic testing of at-risk family members allows one to identify individuals carrying the mutant
alleles with very high specificity and sensitivity. Subsequently, total thyroidectomy, recommended at 5
years of age, can be performed in a prophylactic attempt.
The authors performed a molecular analysis to identify a mutation in a Thai woman with MEN
2A. She was found to be heterozygous for 1900T>C (C634R). The patient had two daughters who were
not found to carry the mutation.
The newly available genetic test for patients with MEN 2A in Thailand makes possible accurate
DNA-based diagnosis of their at-risk family members before development of the disease, which has
important therapeutic impacts for them.
Key word : Multiple Endocrine Neoplasia, RET, Mutation Analysis
THIVARATANA SINTHUWIWAT,BSc**,
VORASUK SHOTELERSUK, MD**
Multiple endocrine neoplasia type 2A (MEN 2A) is an autosomal dominant disorder charac-
terized by medullary thyroid carcinoma, pheochromocytoma and primary hyperparathyroidism. The
first tumor is usually a medullary thyroid carcinoma. MEN 2A is caused by mutations in the
RET
proto-oncogene. The detection of mutations in the gene has important diagnostic and therapeutic
impacts. Genetic testing of at-risk family members allows one to identify individuals carrying the mutant
alleles with very high specificity and sensitivity. Subsequently, total thyroidectomy, recommended at 5
years of age, can be performed in a prophylactic attempt.
The authors performed a molecular analysis to identify a mutation in a Thai woman with MEN
2A. She was found to be heterozygous for 1900T>C (C634R). The patient had two daughters who were
not found to carry the mutation.
The newly available genetic test for patients with MEN 2A in Thailand makes possible accurate
DNA-based diagnosis of their at-risk family members before development of the disease, which has
important therapeutic impacts for them.
Key word : Multiple Endocrine Neoplasia, RET, Mutation Analysis
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