Genetics information

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.
Her presentation and accompanying slides can be accessed HERE.

MPN genetics information

• CHIP ahoy: charting a decade of discovery in clonal hematopoiesis, Review article, Haematologica, 2026
• Predict Blood tool, NHS online tool to help health professionals see how a person’s MPN might develop given their age, gender, health and any information that is known about genetic variations that they carry.
• A molecular signature predicts hematologic evolution in polycythemia vera patients, Leukemia, 2025
• Evolution of myeloproliferative neoplasms from normal blood stem cells, MPN review series, Haematologica, April, 2025
• Clonal evolution: a landmark of MPN evolution, Review article, Frontiers in Hematology, 2024
• 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