Clinical, genetic, and familial features of POT1 tumor predisposition syndrome.

ABSTRACT:

Background

Protection of telomere 1 (POT1) tumor predisposition syndrome (POT1-TPD) is a hereditary leukemia syndrome that is identified in ∼5% of patients with chronic lymphocytic leukemia (CLL) and is characterized by a predisposition to other cancers, including gliomas, melanomas, and angiosarcomas. This study reports clinical and genetic characteristics of a large cohort of individuals with POT1-TPD.

Materials and methods

Individuals with pathogenic/likely pathogenic germline POT1 variants referred to the Hereditary Hematologic Malignancy Clinic at The University of Texas MD Anderson Cancer Center were included. Individuals with variants of uncertain significance were included if found to have telomeres >90th percentile of age-predicted length.

Results

Twenty-four

SUBMITTER: DiNardo CD 

PROVIDER: S-EPMC12904310 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature