Article
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Blood reviews - 1 Jul 2020
Bellanné-Chantelot Christine, Rabadan Moraes Graciela, Schmaltz-Panneau Barbara, Marty Caroline, Vainchenker William, Plo Isabelle
Abstract excerpt
Myeloproliferative neoplasms (MPN) are clonal hematological malignancies that lead to overproduction of mature myeloid cells. They are due to acquired mutations in genes encoding for AK2, MPL and CALR that result in the activation of the cytokine receptor/JAK2 signaling pathway. In addition, it exists germline variants that can favor the initiation of the disease or may affect its phenotype. First, they can be...
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