« Of great interest, a set of epigenetic mutations can co-exist with the phenotypic driver mutations in 35%–40% of MPNs. These epigenetic mutations, such as TET2, EZH2, ASXL1, or DNMT3A mutations, promote clonal hematopoiesis and increased fitness of aged hematopoietic stem cells in both clonal hematopoiesis of indeterminate potential (CHIP) and MPNs. Importantly, the main MPN driver mutation JAK2 V617F is also associated with CHIP. Accumulation of several epigenetic and splicing mutations favors progression of MPNs to secondary acute myeloid leukemia. Another major fundamental question is how epigenetic rewiring due to these mutations interacts with persistent JAK2-STAT5 signaling. Answers to these questions are required for better therapeutic interventions aimed at preventing progression of ET and PV to MF, and transformation of these MPNs in secondary acute myeloid leukemia. »
Functional Consequences of Mutations in Myelopro... - MPN Voice
Functional Consequences of Mutations in Myeloproliferative Neoplasms
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Manouche
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It's great to know there is ongoing research on MPNS. I appreciate your research and reporting.
Have you been tested for mutations, other than the driver one? I was told a few years ago that this was not something which was normally done -but maybe things are moving on.
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