De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review

被引：3

作者：

Xu, Miaorong ^{[1
]}

Zheng, Yuyan ^{[1
]}

Zuo, Zhongchao ^{[1
]}

Zhou, Qin ^{[1
]}

Deng, Qun ^{[1
]}

Wang, Jianwei ^{[1
]}

Wang, Da ^{[1
]}

机构：

[1] Zhejiang Univ, Affiliated Hosp 2, Sch Med,Dept Colorectal Surg & Oncol, Key Lab Canc Prevent & Intervent,Minist Educ, Jiefang Rd 88Th, Hangzhou 310009, Zhejiang, Peoples R China

来源：

WORLD JOURNAL OF SURGICAL ONCOLOGY | 2023年 / 21卷 / 01期

基金：

中国国家自然科学基金;

关键词：

APC; De novo; Familial adenomatous polyposis; Germline mutation; Thyroid cancer; CRIBRIFORM-MORULAR VARIANT; BETA-CATENIN; TASK-FORCE; CARCINOMA; GENE; PREVALENCE; HEREDITARY; MANAGEMENT; DISEASE; RISK;

D O I：

10.1186/s12957-023-02951-9

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

BackgroundGermline mutations in the APC gene located on chromosome 5q 21-22 can lead to familial adenomatous polyposis (FAP) and the development of colorectal cancer (CRC) if left untreated. As a rare extracolonic manifestation, thyroid cancer is diagnosed in about 2.6% of FAP patients. The genotype-phenotype correlation in FAP patients with thyroid cancer remains unclear.Case presentationWe present a 20-year-old female of FAP with thyroid cancer as the initial manifestation. The patient was asymptomatic and developed colon cancer liver metastases 2 years after the diagnosis of thyroid cancer. The patient underwent multiple surgical treatments in several organs, and regular colonoscopy with endoscopic polypectomy was performed. Genetic testing demonstrated the c.2929delG (p.Gly977Valfs*3) variant in exon 15 of the APC gene. This represents a previously undescribed APC mutation. This mutation causes loss of multiple structures on the APC gene including the 20-amino acid repeats, the EB1 binding domain, and the HDLG binding site, which may be pathogenic through beta-catenin accumulation, cell cycle microtubule dysregulation, and tumor suppressor inactivation.ConclusionsWe report a de novo FAP case with thyroid cancer presenting atypically aggressive features harboring a novel APC mutation and review APC germline mutations in patients with FAP-associated thyroid cancer.

引用

页数：9