| Two cases of RET proto-oncogene mutation in multiple endocrine neoplasia type 2a |
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Jee Hee Kim, Eun Kyoung Jeon, Kyoung Hee Kim, Lee So Maeng, Soon Jip Yoo, Je Ho Han, Sung Dae Moon |
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경희대학교 의과대학 순환기내과학교실 |
| 증례 : RET 원발암 유전자의 돌연변이가 확인된 제 2a형 다발성 내분비종(MEN 2a) 2예 |
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김지희&#;전은경&#;김경희&#;맹이소&#;유순집&#;한제호&#;문성대, Eun Kyoung Jeon, Kyoung Hee Kim, Lee So Maeng, Soon Jip Yoo, Je Ho Han, Sung Dae Moon |
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| Abstract |
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Multiple endocrine neoplasia type 2a (MEN 2a) is an autosomal dominant disease that manifests with medullary
carcinoma of the thyroid (MCT), pheochromocytoma, and less commonly as hyperparathyroidism. MEN 2b is closely
related to MEN 2a because both diseases involve mutations in the RET proto-oncogene. Almost all patients with MEN
2a have been found to harbor point mutations in the RET proto-oncogene. Since there is a strong genotype-phenotype
correlation in MEN 2, the detection of RET mutations has had a major impact on the early recognition and treatment
of MEN 2. RET analysis should be performed in all patients with MEN 2 and in their familial relatives. We report two
cases of MEN 2a manifesting as MCT and bilateral pheochromocytoma. Mutational analysis showed that these patients
from two unrelated families had RET proto-oncogene mutations at codons 631 and 634. Mutation at codon 631 is
extremely rare, especially found in Korean families with MEN 2a.(Korean J Med 73:S994-S1002, 2007) |
| Key Words:
Multiple endocrine neoplasia, RET proto-oncogene, Pheochromocytoma, Medullary carcinoma of thyroid |
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