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chronic myeloid leukemia, myelofibrosis, JAK2, allogeneic transplantation
Classification of myeloproliferative neoplasms is based on hematologic, histopathologic and molecular characteristics including the presence of the BCR-ABL1 and JAK2 V617F or MPL and CALR. Although the different gene mutations ought to be mutually exclusive, a number of cases with co-occurring BCR-ABL1 and JAK2 V617F or CALR, have been identified with a frequence of 0.2-2.5%in European population .The tyrosine kinase abnormalities appeared to affect independent subclones because imatinib mesylate (IM) treatment induced Ph+-CML remission whereas the JAK2V617F clone either persisted or clinically expanded after major response of Ph+-clone.
Allogeneic stem cell transplantation is at the present the only potentially curative therapy for these patients after therapy with ruxolitinib and TKI inhibitor. We describe the case of 3 young people treated in our institution for coexistence of BCR/ABL chronic myeloid leukemia and another Philadelphia chromosome negative (Ph−) CMPD. They received ruxolitinib, imatinib/nilotinib and allogeneic transplantation with a safe and efficient results.
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