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Human Oncoviruses and p53 Tumor Suppressor Pathway Deregulation at the Origin of Human Cancers
Case Report

A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera

Cancer Cytogenetic Section, HemoDiagnostic Laboratory, Department of Hematology, Aarhus University Hospital, Tage-Hansens Gade 2, DK-8000 Aarhus C, Denmark
Received: 6 June 2018 / Revised: 21 June 2018 / Accepted: 21 June 2018 / Published: 25 June 2018
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. View Full-Text
Keywords: polycythemia vera; chromosomal abnormality; submicroscopic deletion del(4q); oligonucleotide array-based Comparative Genomic Hybridization (aCGH) polycythemia vera; chromosomal abnormality; submicroscopic deletion del(4q); oligonucleotide array-based Comparative Genomic Hybridization (aCGH)
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MDPI and ACS Style

Kjeldsen, E. A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera. Cancers 2018, 10, 214. https://0-doi-org.brum.beds.ac.uk/10.3390/cancers10070214

AMA Style

Kjeldsen E. A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera. Cancers. 2018; 10(7):214. https://0-doi-org.brum.beds.ac.uk/10.3390/cancers10070214

Chicago/Turabian Style

Kjeldsen, Eigil. 2018. "A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera" Cancers 10, no. 7: 214. https://0-doi-org.brum.beds.ac.uk/10.3390/cancers10070214

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