Role of CBL Mutations in Cancer and Non-Malignant Phenotype.

ABSTRACT: CBL plays a key role in different cell pathways, mainly related to cancer onset and progression, hematopoietic development and T cell receptor regulation. Somatic CBL mutations have been reported in a variety of malignancies, ranging from acute myeloid leukemia to lung cancer. Growing evidence have defined the clinical spectrum of germline CBL mutations configuring the so-called CBL syndrome; a cancer-predisposing condition that also includes multisystemic involvement characterized by variable phenotypic expression and expressivity. This review provides a comprehensive overview of the molecular mechanisms in which CBL exerts its function and describes the clinical manifestation of CBL mutations in humans.

SUBMITTER: Leardini D 

PROVIDER: S-EPMC8833995 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature