Articles

Concurrent chronic myeloid leukaemia and myelodysplastic/ myeloproliferative neoplasm with SF3B1 mutation and fulminant thrombocytosis

BJH - volume 15, issue 6, october 2024

E. De Backer MD, K. Deiteren MD, A. De Vooght MD, S. Libbrecht MD, S. De Bruijn MD

SUMMARY

Myeloproliferative neoplasms (MPN) consist of a heterogeneous group of chronic hematological disorders currently classified according to their clinical, phenotypical, and genomic features. Co-existence of JAK2 V617F mutation and BCR::ABL1 fusion gene have been described earlier. However, the concomitant diagnosis of chronic myeloid leukaemia (CML) and myelodysplastic/myeloproliferative neoplasm overlap syndrome with SF3B1 mutation and thrombocytosis (MDS/MPN-SF3B1-T) has not been reported before. We present a case of a 71-year-old female, known with a previous diagnosis of JAK2 V617F mutated MPN and subsequent diagnosis of BCR::ABL1-positive CML and MDS/MPN-SF3B1-T, developing fulminant thrombocytosis (5.481×10^9/L), necessitating thrombocytapheresis and making this case unique.

(BELG J HEMATOL 2024;15(6):238–45)

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