Hunter Family Cancer Service, Newcastle, NSW, Australia.
St Vincent's Cancer Genetics Clinic, UNSW St Vincent's Clinical School, The Kinghorn Cancer Centre, Sydney, NSW, Australia.
Fam Cancer. 2019 Apr;18(2):179-182. doi: 10.1007/s10689-018-0107-1.
While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenomatous polyposis syndromes can be divided into: familial adenomatous polyposis, MUTYH-associated polyposis, polymerase proofreading associated polyposis and the recently described NTHL1-associated polyposis (NAP). NAP is characterised by recessive inheritance, attenuated adenomatous polyposis, colonic cancer(s) and possible extracolonic malignancies. To date, 11 cases have been reported as having germline homozygous or compound heterozygous mutations in the base excision repair gene NTHL1. Here we present a further case of a 65-year-old male with a history of adenomatous polyposis and bladder cancer, who has a previously described homozygous nonsense variant in the NTHL1 gene. This case is consistent with the emerging phenotype previously described of multiple colorectal adenomas and at least one primary tumour, adding to the small but growing body of literature about NAP.
家族性腺瘤性息肉病约占所有结直肠癌的 1%，但许多患者的结直肠腺瘤多灶性发生的遗传原因仍未解决。腺瘤性息肉病综合征可分为：家族性腺瘤性息肉病、MUTYH 相关息肉病、聚合酶校对相关息肉病和最近描述的 NTHL1 相关息肉病（NAP）。NAP 的特征为隐性遗传、腺瘤性息肉病减弱、结直肠癌和可能的结外恶性肿瘤。迄今为止，已有 11 例病例报告存在碱基切除修复基因 NTHL1 的种系纯合或复合杂合突变。本文报道了另 1 例 65 岁男性，有腺瘤性息肉病和膀胱癌病史，其 NTHL1 基因存在先前描述的纯合无义变异。该病例与之前描述的多发性结直肠腺瘤和至少 1 个原发性肿瘤的表型一致，为 NAP 的少量但不断增长的文献提供了补充。
