다발성 인슐린종과 부갑상선 기능항진증을 동반한 젊은 남성에서 발견된 MEN1 유전자의 새로운 배선돌연변이

• 영문명: A Novel Germline Mutation of MEN1 Gene in a Young-aged Multiple Insulinoma with Hyperparathyroidism
• 발행기관: 대한내분비외과학회
• 저자명: 박윤준(Youn Joon Park)
• 간행물 정보: 『The Koreran journal of Endocrine Surgery』15권4호, 99~102쪽, 전체 4쪽
• 주제분류: 의약학 > 일반외과학
• 파일형태: PDF
• 발행일자: 2015.12.30

영문 초록

Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1 germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia and hypercalcemia. The image study showed two insulinoma in the pancreas head and body. MIBI scan was positive in the left lower parathyroid gland. After diagnosis of insulinoma and hyperparathyroidism, MEN1 was suspected, but there was no family history of endocrine disease. Enucleation of the insulinoma in the pancreatic head and body was performed. After the operation, the blood sugar level was normalized and no hypoglycemic symptoms were observed. Testing of germline mutations of the MEN1 gene was performed by direct DNA sequence analysis after obtaining informed consent. In the genetic study, a frameshift mutation was found in exon 2 which deleted 16 nucleic acids (c.326_341del16) and resulted in a truncation at codon 113. This mutation was not reported previously. We found a novel and de novo mutation of the MEN1 gene. Genetic study is necessary in case of young-age, multiple endocrine tumors.

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키워드

다발성내분비샘종양 1형 인슐린종 부갑상선 기능항진증 Multiple Endocrine Neoplasia Type 1 Insulinoma Hyperparathyroidism