Isolated polyglobulia as an uncommon presentation of chronic myeloid leukaemia

Coexistence of JAK2 or CALR mutation is a rare but clinically important event in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors

“…The coexistence of different molecular defects may change the clinical and laboratory manifestation of MPN. In 2016 Fozza et al reported a case of JAK2 V617F and BCR‐ABL1 positive CML, manifesting isolated polyglobulia many months before the appearance of the classical hematological pattern. It was also observed in case no.…”

No Benefit of BCR-ABL1 Screening in Polycythemia

“…However, extremely rare confounding scenarios should always be considered and include the co-existence of CML and PV and singular cases of CML presenting with polycythemia [4,5]. While JAK2 mutation analysis for PV remains high in the diagnostic algorithm for investigation of polycythemia and erythrocytosis [2], more common reasons should be excluded before subsequent investigation of rare underlying causes.…”