A man with concomitant polycythaemia vera and chronic myeloid leukemia: the dynamics of the two disorders

Abstract

The co-occurrence of JAK2 V617F mutation with BCR-ABL reciprocal translocation is uncommon. We report a 60-year-old man who initially presented with phenotype of polycythemia vera (PV), which evolved into chronic myeloid leukemia and back to PV once treatment with imatinib was commenced. JAK2 V617F mutation and BCR-ABL fusion transcripts were detected in the initial sample. However, JAK2 V617F alleles diminished when BCR-ABL mRNA burden increased and reappeared once the patient was commenced on imatinib. The dynamic interaction between JAK2 V617F and BCR-ABL implies that two independent clones exist with the JAK2 V617F clone only achieving clonal dominance when BCR-ABL positive clones are suppressed by imatinib.

Lipocalin‐2 is associated with modulation of disease phenotype in a patient with concurrent JAK2‐V617F and BCR‐ABL mutation

“…In many of the reports, JAK2 ‐V617F+ clones disappear with increase of BCR‐ABL fusion transcripts and reappear on suppression of BCR‐ABL by treatment with imatinib mesylate (IM). We observed the same in a patient we reported (2), who presented initially as polycythaemia vera (PV) and progressed to CML, leading us to postulate that occurrence of clonal dominance indicates the presence of two separate clones of BCR‐ABL + and JAK2 ‐V617F+, initially mutually coexisting but eventually leading to the abolishment of JAK2 ‐V617F cells, through as yet unexplained mechanisms.…”

“…We also obtained samples from normal subjects, BCR‐ABL + CML patients on IM and JAK2 ‐V617F+ MPN patients. Total RNA was extracted using Qiagen AllPrep DNA/RNA/Protein Mini Kit (Qiagen, Hilden, Germany) followed by reverse transcription to cDNA using the RT (2) First strand kit (SA Bioscience, Frederick, MD, USA) according to manufacturer’s instructions.…”

Concomitant BCR-ABL1 Translocation and JAK2V617F Mutation in Three Patients with Myeloproliferative Neoplasms

“…The dosage of the mutant JAK2 V617F gene may also play a role, particularly when there is a duplication or trisomy of chromosome 9. 6,[18][19][20][21][22][23] In this manuscript, we report the clinical, pathologic, molecular, and cytogenetic profiles of 3 patients with concurrent BCR-ABL1 and JAK2 V617F mutations. To our knowledge, 25 cases of patients with a concomitant BCR-ABL1 translocation and JAK2 V617F mutation have been reported in the literature.…”

Diagnostic pathway for the investigation of thrombocytosis

“…There are reports of individuals who harbour two distinct clones, one carrying the JAK2 V617F mutation and the other positive for BCR‐ABL1 (Curtin et al , ; Bee et al , ; Toogeh et al , ). This possibility needs to be kept in mind when investigating and managing a patient with either disorder whose disease is behaving in an atypical manner.…”