Novel chromosomal translocation (17;22)(q12;q12) in a case of myelodisplastic syndrome characterized with signs of hemolytic anemia at presentation |
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Authors: | Antic Darko Impera Luciana Fekete Marija Dencic Djordjevic Vesna Storlazzi Clelia Tiziana Elezovic Ivo |
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Affiliation: | a Clinic for hematology, Clinical Center Serbia, Koste Todorovica 2, 11 000 Belgrade, Serbiab Department of Biology, University of Bari Aldo Moro, Via Amendola 165/A, 70126, Bari, Italy |
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Abstract: | Myelodysplastic syndromes (MDS) are clonal stem cell diseases that can result in cytopenias, dysplasia in one or more cell lineages, infective hematopoiesis, and increase the risk of progression to acute myeloid leukemia (AML). MDSs are characterized by several recurrent cytogenetic defects, which can affect diagnosis, prognosis, and treatment. Some of that chromosomal alterations are associated with very poor prognosis. Conventional cytogenetics cannot accurately define the rearranged karyotype. Instead, molecular cytogenetics analyses can provide important diagnostic and prognostic information for patients affected by MDS, allowing the characterization of the whole mutational spectrum and, mainly, novel chromosomal lesions.In this paper, we report a MDS case with a novel chromosomal translocation [t(17;22)(q12;q22)], described for the first time here. Following Giemsa-banding karyotyping, fluorescent in situ hybridization analyses, by using chromosome-specific probes, displayed the breakpoint regions at chromosomes 17 and 22, within which intra and inter-chromosomal segmental duplications (SD) are present. Because of the occurrence of SDs in breakpoint region, it was not possible to finely define the genomic regions where breaks fell. Further investigations could be required to better understand the molecular basis of the novel translocation t(17;22)(q12;q12) acting in MDS context and to explain if SDs could contribute to the pathogenesis of MDS. |
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Keywords: | MDS, myelodysplastic syndromes AML, acute myeloid leukemia SD, segmental duplications Hb, hemoglobin WBC, white blood cells Plt, platelets IPSS, International Prognostic Scoring System FISH, fluorescence in situ hybridization DNA, deoxyribonucleotide amino acid DAPI, 4',6-diamidino-2-phenylindole WCP, whole chromosome paint DOP-PCR, degenerate oligonucleotide primer polymerase chain reaction BAC, bacterial artificial chromosome G-banding, Giemsa banding LIF, leukemia inhibitory factor OSM, oncostatin M precursor SF3A1, splicing factor 3a, subunit 1 DUSP18, dual specificity phosphatase 18 SURP, (according to the name of Sumatran Orangutan) protein family MKP, mitogen-activated protein kinase phosphatase SOCS7, suppressor of cytokine signaling 7 ARHGAP23, Rho GTPase activating protein 23 SELM, selenoprotein M precursor LIMK2, LIM domain kinase 2 PNH, paroxysmal nocturnal hemoglobinuria |
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