가족성 대장 용종증에 동반된 갑상선 유두암 1예 (A Case of Thyroid Papillary Cancer Associated with Familial Adenomatous Polyposis)

서지정보

· 발행기관 : 대한내분비학회
· 수록지 정보 : Endocrinology and Metabolism / 19권 / 2호 / 209 ~ 216페이지
· 저자명 : 신성재, 이현주, 김소헌, 심완섭, 이시훈, 김유미, 이유미, 김태일, 차봉수, 이현철, 임승길

초록

본 저자들은 가족성 대장 용종증에 동반된 갑상선암으로 진단 받은 29세 여자 환자에서 갑상선 암의 조직 검사상 특징적인 cribriform-morular 변이 형태의 소견을 보이며, 가족성 대장 용종증으로 전 대장 절제술을 시행 받은 오빠 및 환자에서 갑상선암의 호발 부위와 관련된 APC 유전자 15번 exon의 1309 codon 에서 배선 돌연변이(germline mutation)를 확인할 수 있었으며, 이러한 결과를 토대로 각각의 가족들에게 개인에 맞는 유전 상담을 시행할 수 있었기에 문헌 고찰과 함께 보고하는 바이다.

영어초록

Familial adenomatous polyposis(FAP) is an autosomal dominant syndrome, typically characterized by multiple colorectal adenomas and increased incidence of colorectal carcinomas if left untreated. It is caused by germline mutations of the adenomatous polyposis coli(APC) gene, which has been mapped on chromosome 5q21, and is accompanied by various benign and malignant extracolonic manifestations. The prevalence of thyroid tumors developing in patients with FAP is about 1～2%, are associated with FAP and have certain characteristics; mean age of tumor diagnosis at less than 30 years of age, the pathology is the papillary histiotype in more than 90% of cases, including a so-called cribriform- morular pattern, and multifocality is a frequent feature.In a genetic analysis, thyroid cancer in FAP usually has a mutation in the 5-portion of exon 15 between 778 and 1309, on chromosome 5q21. Also, the ret/PTC(especially ret/PTC1 and ret/PTC3) and p53 genes are thought probably to be associated with thyroid cancer in FAP patients.A case of familial adenomatous polyposis, accompanied by thyroid papillary cancer, was experienced in a 29 year-old female. She had hundreds of adenomas throughout the entire colon and congenital hypertrophy of the retinal pigment epithelium(CHRPE). The pathological finding of thyroid cancer was revealed as a mixture of cribriform, trabecular and papillary patterns. In a genetic analysis, she and her brother had a germline mutation of the APC gene at codon 1309. In Korea, there has been no previous case of cribriform-morular pattern and familial genetic analysis in FAP associated with thyroid cancer. Therefore, this case is reported, with a review of the literature

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