Myeloproliferative Neoplasms (MPN)

Overview

Myeloproliferative Neoplasms (MPN) is a group of clonal hematopoietic stem cell disorders under the OncoTree Myeloid and Lymphoid Neoplasms (MNM) parent node. Classic BCR-ABL1-negative MPNs include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (MF/PMF). JAK2 V617F is the most prevalent driver, with CALR and MPL mutations defining the JAK2-negative subset.

Cohorts in the corpus

• mpn_cimr_2013 — 151 MPN patients (48 PV, 62 ET, 39 MF, 2 unclassifiable) with whole-exome sequencing. PMID:24325359

Recurrent alterations

• Whole-exome sequencing of 151 MPN patients (48 PV, 62 ET, 39 MF, 2 unclassifiable) discovered recurrent somatic CALR exon 9 frameshift indels in 70-84% of JAK2/MPL-negative MPN cases; JAK2, MPL, and CALR mutations were mutually exclusive in 97% of patients, collectively covering virtually all MPN drivers. Median mutations per patient: 6.5 (PV/ET), 13.0 (MF; P<0.001 vs ET). PMID:24325359

Subtypes

• ET — Essential Thrombocythemia
• PV — Polycythemia Vera
• MPNU — Myeloproliferative Neoplasms, Unclassifiable

Therapeutic landscape

• CALR mutation discovery opens prospect of CALR-mutant-specific therapeutic strategies distinct from the JAK2/MPL signaling axis. PMID:24325359

Sources

• PMID:24325359

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