Overview

NCI Definition: A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage. [1]

Polycythemia veras most frequently harbor alterations in JAK2, TET2, ASXL1, DNMT3A, and TP53 [2].

Most Commonly Altered Genes in Polycythemia Vera

JAK2 Mutation, JAK2 V617F, JAK2 Exon 14 Mutation, TET2 Mutation, and TET2fs are the most common alterations in polycythemia vera [2].

Top Alterations in Polycythemia Vera

Significant Genes in Polycythemia Vera

ABL1 +

AFF1 +

ASXL1 +

BCR +

DEK +

ELL +

FLT3 +

JAK2 +

KMT2A +

MECOM +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

NRIP3 +

NUP214 +

RPN1 +

RUNX1 +

TP53 +

Disease Details

Synonyms
Polycythemia Rubra Vera, Polycythemia Vera (PV)
Parent(s)
Polycythemia
Children
Polycythemia Vera, Post-Polycythemic Myelofibrosis Phase
OncoTree Name
Polycythemia Vera
OncoTree Code
PV

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.