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Review

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

Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), Department of Experimental and Clinical Medicine, Azienda Ospedaliera Universitaria Careggi, University of Florence, Largo Brambilla 3, 50134 Florence, Italy
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editors: Marco Vitale and Elena Masselli
Cells 2021, 10(8), 1962; https://doi.org/10.3390/cells10081962
Received: 12 July 2021 / Revised: 27 July 2021 / Accepted: 30 July 2021 / Published: 2 August 2021
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. View Full-Text
Keywords: myeloproliferative neoplasms; polycythemia vera; essential thrombocythemia; myelofibrosis; JAK2; CALR; MPL; JAK-STAT pathway; additional mutations; prognosis myeloproliferative neoplasms; polycythemia vera; essential thrombocythemia; myelofibrosis; JAK2; CALR; MPL; JAK-STAT pathway; additional mutations; prognosis
MDPI and ACS Style

Loscocco, G.G.; Coltro, G.; Guglielmelli, P.; Vannucchi, A.M. Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms. Cells 2021, 10, 1962. https://doi.org/10.3390/cells10081962

AMA Style

Loscocco GG, Coltro G, Guglielmelli P, Vannucchi AM. Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms. Cells. 2021; 10(8):1962. https://doi.org/10.3390/cells10081962

Chicago/Turabian Style

Loscocco, Giuseppe G., Giacomo Coltro, Paola Guglielmelli, and Alessandro M. Vannucchi 2021. "Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms" Cells 10, no. 8: 1962. https://doi.org/10.3390/cells10081962

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