Huang Wei, Bian Jin, Qian Xiaoping, Shao Lin, Li Haiyan, Zhang Lu, Wang Lin
Department of Oncology, Jiangsu Province Hospital of Chinese Medicine, Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, China.
Department of Oncology, Nanjing Jinling Hospital, Nanjing, China.
Front Oncol. 2021 Mar 25;11:658389. doi: 10.3389/fonc.2021.658389. eCollection 2021.
Deleterious mutations in gene cause the autosomal dominant familial adenomatous polyposis (FAP) which is typically characterized by the occurrence of hundreds to thousands of colorectal adenomas that eventually lead to colorectal cancers (CRCs). are the two major susceptibility genes for breast and ovarian cancers. Here, we reported a coinheritance of mutations in and genes in a 20-year-old CRC patient with typical clinical features for FAP. Multiple relatives in the family of the patient were affected by colorectal and other cancers. Next-generation sequencing analysis using a panel consisting of 53 hereditary cancer related genes revealed a maternally inherited (exon15cn_del) mutation and a paternally inherited (p.lle1824AspfsX3) mutation. This is the first coexistence of and mutations in a CRC patient with the mutation inheritance pattern comprehensively characterized in the family. The patient underwent a colonoscopy and a subtotal colectomy and was subsequently diagnosed with colonic adenocarcinomas accompanied with hundreds of tubulovillous adenomas. The case reveals the scenario where two disease-causing mutations of different hereditary tumor syndromes coexist, and illustrates the importance of evaluating detailed family history and performing a multiple-gene panel test in patients with hereditary cancer.
基因中的有害突变会导致常染色体显性遗传性家族性腺瘤性息肉病（FAP），其典型特征是出现数百至数千个结肠腺瘤，最终导致结直肠癌（CRC）。 是乳腺癌和卵巢癌的两个主要易感基因。在此，我们报告了一名20岁的CRC患者中 基因和 基因的突变共遗传现象，该患者具有FAP的典型临床特征。该患者家族中的多名亲属患有结直肠癌和其他癌症。使用包含53个遗传性癌症相关基因的检测板进行的下一代测序分析揭示了一个母系遗传的 （外显子15cn_del）突变和一个父系遗传的 （p.lle1824AspfsX3）突变。这是首次在一名CRC患者中同时存在 和 突变，且在家族中全面表征了突变遗传模式。该患者接受了结肠镜检查和次全结肠切除术，随后被诊断为结肠腺癌并伴有数百个管状绒毛状腺瘤。该病例揭示了不同遗传性肿瘤综合征的两个致病突变共存的情况，并说明了评估详细家族史和对遗传性癌症患者进行多基因检测板检测的重要性。
