Abstract
Background: Polycythemia vera (PV) is a clonal myeloid stem cell disease characterized by a growth-factor independent erythroid proliferation with an inherent tendency to transform into overt acute myeloid malignancy. Approximately 95% of the PV patients harbor the JAK2V617F mutation while less than 35% of the patients harbor cytogenetic abnormalities at the time of diagnosis. Methods and Results: Here we present a JAK2V617F positive PV patient where G-banding revealed an apparently balanced t(2;4)(q35;q21), which was confirmed by 24-color karyotyping. Oligonucleotide array-based Comparative Genomic Hybridization (aCGH) analysis revealed an interstitial 5.4 Mb large deletion at 4q23q24. Locus-specific fluorescent in situ hybridization (FISH) analyses confirmed the mono-allelic 4q deletion and that it was located on der(4)t(2;4). Additional locus-specific bacterial artificial chromosome (BAC) probes and mBanding refined the breakpoint on chromosome 2. With these methods the karyotype was revised to 46,XX,t(2;4)(q36.1;q24)[18]/46,XX[7]. Conclusions: This is the first report on a PV patient associated with an acquired novel t(2;4)(q36.1;q24) and a concurrent submicroscopic deletion del(4)(q23q24). The study also underscores the benefit of combined usage of FISH and oligo-based aCGH analysis in characterizing chromosomal abnormalities. The present findings provide additional clues to unravel important molecular pathways in PV to obtain the full spectrum of acquired chromosomal and genomic aberrations, which eventually may improve treatment options.
Highlights
Polycythemia vera (PV) is a clonal hematopoietic stem cell disorder classified as a BCR/ABL1-negative myeloproliferative disease (MPD) with a variable risk of transformation into myelodysplasia (MDS)
Polycythemia vera has an inherent tendency to transform into myelofibrosis (MF), MDS or acute myeloid leukemia (AML) [18]
Cytogenetic abnormalities may play a role in the transformation process as the frequency of chromosomal aberrations in PV is approximately 20% at diagnosis but much higher among patients transforming to AML [7,8,9,10]
Summary
Acute myeloid leukemia (AML) [1,2] It is characterized by a clonal increase in red blood cells, granulocytes and platelets, with erythrocytosis being the hallmark of the disease. Some reports have suggested that patients with PV carrying chromosomal aberrations at the time of diagnosis have a shorter survival and increased risk of AML/MDS compared to those with a normal karyotype [11] the predictive prognostic value of chromosomal aberrations has not yet been established in PV. Polycythemia vera (PV) is a clonal myeloid stem cell disease characterized by a growth-factor independent erythroid proliferation with an inherent tendency to transform into overt acute myeloid malignancy.
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