Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms

Elisa Rumi, Mario Cazzola

Research output: Contribution to journalReview articlepeer-review

Abstract

Philadelphia-negative classical myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The 2016 revision of the WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues includes new criteria for the diagnosis of these disorders. Somatic mutations in the 3 driver genes, that is, JAK2, CALR, andMPL, represent major diagnostic criteria in combination with hematologic and morphological abnormalities. PV is characterized by erythrocytosis with suppressed endogenous erythropoietin production, bone marrow panmyelosis, and JAK2 mutation. Thrombocytosis, bone marrow megakaryocytic proliferation, and presence of JAK2, CALR, or MPL mutation are the main diagnostic criteria for ET.PMF is characterized by bone marrow megakaryocytic proliferation, reticulin and/or collagen fibrosis, and presence of JAK2, CALR, or MPL mutation. Prefibroticmyelofibrosis represents an early phase of myelofibrosis, and is characterized by granulocytic/megakaryocytic proliferation and lack of reticulin fibrosis in the bone marrow. The genomic landscape of MPNs is more complex than initially thought and involves several mutant genes beyond the 3 drivers. Comutated, myeloid tumorsuppressor genes contribute to phenotypic variability, phenotypic shifts, and progression tomore aggressive disorders. Patients with myeloid neoplasms are at variable risk of vascular complications, including arterial or venous thrombosis and bleeding. Current prognosticmodels aremainly based on clinical and hematologic parameters, but innovativemodels that include genetic data are being developed for both clinical and trial settings. In perspective, molecular profiling of MPNsmight also allow for accurate evaluation and monitoring of response to innovative drugs that target the mutant clone.

Original languageEnglish
Pages (from-to)680-692
Number of pages13
JournalBlood
Volume129
Issue number6
DOIs
Publication statusPublished - Feb 9 2017

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

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