A new family with NTHL1-associated polyposis (NAP) is described, involving a 58-year-old male affected with >100 colorectal polyps and a 55-year-old female sibling with nine colorectal polyps. The female was also diagnosed with a thyroid adenoma at age 40. Significantly, no malignant neoplasms have been detected in this family, which is important to further delineate the clinical phenotype related to NAP. A review of previously reported obligate heterozygous carriers of NTHL1 variants showed two patients affected with neoplasms at <55 years of age, generating a study to outline the phenotypic spectrum in patients with heterozygous pathogenic NTHL1 variants relevant.

描述了一个与NTHL1相关性息肉病（NAP）的新家庭，涉及一个58岁的男性，患有> 100例结肠直肠息肉，以及一个55岁的女性同胞，患有9例结肠直肠息肉。该女性还在40岁时被诊断出患有甲状腺腺瘤。重要的是，该家族中未检测到恶性肿瘤，这对于进一步描述与NAP相关的临床表型非常重要。对先前报道的NTHL1变体专性杂合子携带者的综述显示，两名患者在<55岁时受到肿瘤的影响，开展了一项研究，概述了与杂合性病原性NTHL1变体相关的患者的表型谱。