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Federica Sorà
Patrizia Chiusolo
Francesco autore
Sabrina Giammarco
luca laurenti
elisabetta metafuni
idanna innocenti
eugenio galli
andrea bacigalupo
simona sica


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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