CBL plays a key role in different cell pathways, mainly related to cancer onset and progres-sion, 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 char-acterized 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.
Role of CBL Mutations in Cancer and Non-Malignant Phenotype / Leardini D.; Messelodi D.; Muratore E.; Baccelli F.; Bertuccio S.N.; Anselmi L.; Pession A.; Masetti R.. - In: CANCERS. - ISSN 2072-6694. - STAMPA. - 14:3(2022), pp. 839.1-839.14. [10.3390/cancers14030839]
Role of CBL Mutations in Cancer and Non-Malignant Phenotype
Leardini D.;Messelodi D.;Muratore E.;Baccelli F.;Bertuccio S. N.;Anselmi L.;Pession A.;Masetti R.
2022
Abstract
CBL plays a key role in different cell pathways, mainly related to cancer onset and progres-sion, 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 char-acterized 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.File | Dimensione | Formato | |
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