Treatment of

Introduction and importance: Chronic myeloid leukemia (CML) is characterized by a BCR-ABL1 fusion gene of the Philadelphia chromosome, which is mutually exclusive of genetic abnormalities associated with the myeloproliferative neoplasms polycythemia vera, essential thrombocythemia, and primary myelofibrosis (PMF). These conditions are commonly linked to driver mutations in JAK2, CALR, and MPL. Rare cases with both BCR-ABL1 rearrangement and JAK2 V617F mutation have been reported. However, standardized and effective treatments are lacking. Case presentation: Herein, we report a patient with PMF who progressed to accelerated CML. Initially, molecular genetic analyses revealed a JAK2 V617F mutation but no BCR-ABL1 rearrangement and the patient was diagnosed with PMF. Nine years after the initial PMF diagnosis, the patient was diagnosed with accelerated CML. Next-generation sequencing confirmed the presence of a BCR-ABL fusion and JAK2 V617 mutation. A combination of 20 mg ruxolitinib twice daily and 0.6 g flumatinib daily was prescribed as treatment. Discussion: Serial quantitative measurements of the expression of BCR-ABL and JAK2 V617F following treatment with flumatinib demonstrated a marked reduction in the levels of the BCR-ABL transcripts, with a concomitant increase in the JAK2 V617F allele burden, suggesting that the two disorders arose from independent clones. The case presented suggests that the JAK2 V617F mutation and BCR-ABL fusion can coexist in early progenitor cells. Conclusion: In the current case, the BCR-ABL fusion was detected and CML was confirmed after the recurrence of splenomegaly. Subsequent treatment with a combination of flumatinib and ruxolitinib was demonstrated to be safe and effective.