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- W3192983290 endingPage "1962" @default.
- W3192983290 startingPage "1962" @default.
- W3192983290 abstract "Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) are clonal disorders of a hematopoietic stem cell, characterized by an abnormal proliferation of largely mature cells driven by mutations in JAK2, CALR, and MPL. All these mutations lead to a constitutive activation of the JAK-STAT signaling, which represents a target for therapy. Beyond driver ones, most patients, especially with myelofibrosis, harbor mutations in an array of “myeloid neoplasm-associated” genes that encode for proteins involved in chromatin modification and DNA methylation, RNA splicing, transcription regulation, and oncogenes. These additional mutations often arise in the context of clonal hematopoiesis of indeterminate potential (CHIP). The extensive characterization of the pathologic genome associated with MPN highlighted selected driver and non-driver mutations for their clinical informativeness. First, driver mutations are enlisted in the WHO classification as major diagnostic criteria and may be used for monitoring of residual disease after transplantation and response to treatment. Second, mutation profile can be used, eventually in combination with cytogenetic, histopathologic, hematologic, and clinical variables, to risk stratify patients regarding thrombosis, overall survival, and rate of transformation to secondary leukemia. This review outlines the molecular landscape of MPN and critically interprets current information for their potential impact on patient management." @default.
- W3192983290 created "2021-08-16" @default.
- W3192983290 creator A5013539196 @default.
- W3192983290 creator A5037023793 @default.
- W3192983290 creator A5046772202 @default.
- W3192983290 creator A5053174640 @default.
- W3192983290 date "2021-08-02" @default.
- W3192983290 modified "2023-10-02" @default.
- W3192983290 title "Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms" @default.
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