This page is about genetics information and MPNs.
More general MPN information is at the main MPN guidelines and articles page.
An important video presentation by Dr Jyoti Nangalia, courtesy of the MPN Education Foundation at its 2025 MPN conference, provides an excellent overview of MPN molecular biology.
This presentation and accompanying slides can be accessed HERE.
MPN genetics information
- Evolution of myeloproliferative neoplasms from normal blood stem cells, MPN review series, Haematologica, April, 2025
- Life histories of myeloproliferative neoplasms inferred from phylogenies, Nature, 2022
- Characterization of myeloproliferative neoplasms based on genetics only and prognostication of transformation to blast phase, Nature, 2024
- Genetic basis and molecular profiling in myeloproliferative neoplasms, Blood, 2023
- Panel-based gene testing in myelodysplastic/myeloproliferative neoplasm overlap syndromes: Australasian Leukaemia and Lymphoma Group (ALLG) consensus statement, Pathology, 2022
- Classification and Personalized Prognosis in Myeloproliferative Neoplasms, NEJM, 2018
- Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population, Blood, 2019
- Genetics Home Reference – Your Guide to Understanding Genetic Conditions
- ET https://ghr.nlm.nih.gov/condition/essential-thrombocythemia
- PV https://ghr.nlm.nih.gov/condition/polycythemia-vera#resources
- MF https://ghr.nlm.nih.gov/condition/primary-myelofibrosis
Specific MPN driver genetic mutations
- JAK2 https://ghr.nlm.nih.gov/gene/JAK2
- CALR https://ghr.nlm.nih.gov/gene/CALR
- MPL https://ghr.nlm.nih.gov/gene/MPL#resources
Other MPN genetic mutations
TET2
- TET2 https://ghr.nlm.nih.gov/gene/TET2#conditions
- MPN Hub, 2020 – TET2 mutations predict thrombotic risk in patients with polycythemia vera
- The Prevalence of TET2 Gene Mutations in Patients with BCR–ABL-Negative Myeloproliferative Neoplasms (MPN): A Systematic Review and Meta-Analysis, Cancers, 2021
DNMT3A
- DNMT3A in haematological malignancies, Nature Reviews Cancer, 2015
- DNMT3A mutations are unlikely to affect interferon alfa treatment outcomes in patients with polycythemia vera, Letter to Blood, July 2025
ASXL1
- ASXL1 mutations are prognostically significant in PMF, but not MF following essential thrombocythemia or polycythemia vera, Blood Advances (letter), 2022
- Genomic analysis of primary and secondary myelofibrosis redefines the prognostic impact of ASXL1 mutations: a FIM study, Blood Advances, 2021
