Abstract
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.
Highlights
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
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
Summary
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 patient had no family history of colonic adenomas or cancer, and genetic testing was not performed. Due to multiple colorectal polyps in her brother, the patient underwent a colonoscopy, and a tubular adenoma with moderate dysplasia was removed from the caecum at age 45.
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