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- W2808754511 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." @default.
- W2808754511 created "2018-06-29" @default.
- W2808754511 creator A5021792647 @default.
- W2808754511 date "2018-06-25" @default.
- W2808754511 modified "2023-09-25" @default.
- W2808754511 title "A Novel Acquired t(2;4)(q36.1;q24) with a Concurrent Submicroscopic del(4)(q23q24) in An Adult with Polycythemia Vera" @default.
- W2808754511 cites W127132305 @default.
- W2808754511 cites W140046979 @default.
- W2808754511 cites W1571484990 @default.
- W2808754511 cites W1571680356 @default.
- W2808754511 cites W1796305773 @default.
- W2808754511 cites W1967803088 @default.
- W2808754511 cites W1971183910 @default.
- W2808754511 cites W1974014384 @default.
- W2808754511 cites W1974646709 @default.
- W2808754511 cites W1974754966 @default.
- W2808754511 cites W1975135941 @default.
- W2808754511 cites W1975612076 @default.
- W2808754511 cites W1980568348 @default.
- W2808754511 cites W1980612262 @default.
- W2808754511 cites W1981463058 @default.
- W2808754511 cites W1984960437 @default.
- W2808754511 cites W1986106255 @default.
- W2808754511 cites W1991179403 @default.
- W2808754511 cites W1995156848 @default.
- W2808754511 cites W1998393353 @default.
- W2808754511 cites W1998721150 @default.
- W2808754511 cites W2003492285 @default.
- W2808754511 cites W2005458309 @default.
- W2808754511 cites W2010740179 @default.
- W2808754511 cites W2012686883 @default.
- W2808754511 cites W2012701284 @default.
- W2808754511 cites W2015568081 @default.
- W2808754511 cites W2018350295 @default.
- W2808754511 cites W2018574777 @default.
- W2808754511 cites W2022060705 @default.
- W2808754511 cites W2025391163 @default.
- W2808754511 cites W2025408251 @default.
- W2808754511 cites W2028078153 @default.
- W2808754511 cites W2028229106 @default.
- W2808754511 cites W2028803880 @default.
- W2808754511 cites W2030868349 @default.
- W2808754511 cites W2036453074 @default.
- W2808754511 cites W2038449573 @default.
- W2808754511 cites W2039736695 @default.
- W2808754511 cites W2047893179 @default.
- W2808754511 cites W2049145190 @default.
- W2808754511 cites W2053519828 @default.
- W2808754511 cites W2053588823 @default.
- W2808754511 cites W2053716920 @default.
- W2808754511 cites W2057360098 @default.
- W2808754511 cites W2060276613 @default.
- W2808754511 cites W2071955170 @default.
- W2808754511 cites W2072881492 @default.
- W2808754511 cites W2080353776 @default.
- W2808754511 cites W2097743943 @default.
- W2808754511 cites W2102086131 @default.
- W2808754511 cites W2109805255 @default.
- W2808754511 cites W2112129429 @default.
- W2808754511 cites W2112316414 @default.
- W2808754511 cites W2116205277 @default.
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- W2808754511 cites W2119780609 @default.
- W2808754511 cites W2123233611 @default.
- W2808754511 cites W2125461181 @default.
- W2808754511 cites W2127960825 @default.
- W2808754511 cites W2128577940 @default.
- W2808754511 cites W2128919238 @default.
- W2808754511 cites W2132198075 @default.
- W2808754511 cites W2140802369 @default.
- W2808754511 cites W2144664431 @default.
- W2808754511 cites W2144887977 @default.
- W2808754511 cites W2149373649 @default.
- W2808754511 cites W2153354999 @default.
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- W2808754511 cites W2176681260 @default.
- W2808754511 cites W2338296282 @default.
- W2808754511 cites W2344108420 @default.
- W2808754511 cites W2406262443 @default.
- W2808754511 cites W2469728488 @default.
- W2808754511 cites W2767250221 @default.
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- W2808754511 doi "https://doi.org/10.3390/cancers10070214" @default.
- W2808754511 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6071118" @default.
- W2808754511 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29941837" @default.
- W2808754511 hasPublicationYear "2018" @default.
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