NDLI: Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms

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Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms

Content Provider	MDPI
Author	Loscocco, Giuseppe Coltro, Giacomo Guglielmelli, Paola Vannucchi, Alessandro
Copyright Year	2021
Description	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.
Starting Page	1962
e-ISSN	20734409
DOI	10.3390/cells10081962
Journal	Cells
Issue Number	8
Volume Number	10
Language	English
Publisher	MDPI
Publisher Date	2021-08-02
Access Restriction	Open
Subject Keyword	Cells Oncology Myeloproliferative Neoplasms Polycythemia Vera Essential Thrombocythemia Myelofibrosis Jak2 Calr Mpl Jak-stat Pathway Additional Mutations Prognosis
Content Type	Text
Resource Type	Article

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