The case of chronic myeloproliferative disorder with combination of a bcr/abl translocation and Jak2 V617F mutation

A rare case of a combination of two molecular defects in a male patient of 67 years old such as simultaneous detection of Jak2 V617F mutation and BCR-ABL translocation has been presented. According to marrow histology a chronic myeloid leukemia (CML), granulocyte-megakariocytoid variant, was initially diagnosed. During the treatment a fast suppression of Ph-positive clone with stable complete cytogenetic and molecular responses with lack of hematologic remission and also with splenomegaly persisted was noticed. Biclonal myeloproliferative disorders (CML and chronic idiopathic myelofibrosis) was diagnosed 5 years after imatinib mesylate therapy: bone marrow local myelofibrosis was discovered and Jak2 V617F mutation was also found at molecular genetic testing. All this led to a change in therapy. Also in the article a short review of foreign literature data about incidence with combination of a BCR-ABL translocation and Jak2 V617F mutation is presented. In most cases the common factor was the fast suppression of a Ph-positive clone due to its weakness compared with Jak2 V617F activation on-treatment tyrosine kinase inhibitors. It was reported by two groups of researchers during experimental analysis of erythroid and granulocytic-macrophage colonies based on methylcellulose. There is an important question if discovering of evident proliferation of megakaryocytic lineage with giant ugly forms and fibrosis found in bone marrow histology at CML is the evidence of the second Ph-negative myeloproliferative disorders. Optimal treatment strategy in similar cases is discussed.

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Turkina A.G. – doctor of medical sciences, professor, head of the scientific advisory department for chemotherapy of myeloproliferative disorders