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Conventional and molecular cytogenetic studies to characterize 32 complex variant philadelphia translocations in patients with chronic myeloid leukemia

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dc.contributor.author Costa, Dolors
dc.contributor.author Grau, Javier
dc.contributor.author Espinet Solà, Blanca
dc.contributor.author Arias, Amparo
dc.contributor.author Gómez, Cándida
dc.contributor.author López-Guerra, Mónica
dc.contributor.author Nomdedeu, Meritxell
dc.contributor.author Cervantes, Francisco
dc.date.accessioned 2020-03-25T07:50:53Z
dc.date.available 2020-03-25T07:50:53Z
dc.date.issued 2019
dc.identifier.citation Costa D, Grau J, Espinet B, Arias A, Gómez C, López-Guerra M, et al. Conventional and molecular cytogenetic studies to characterize 32 complex variant philadelphia translocations in patients with chronic myeloid leukemia. Oncol Lett. 2019 Jun; 17(6): 5705-10. DOI: 10.3892/ol.2019.10245
dc.identifier.issn 1792-1074
dc.identifier.uri http://hdl.handle.net/10230/44017
dc.description.abstract BCR/ABL1 gene fusion is the hallmark of chronic myeloid leukemia (CML), and is generated in 5-10% of patients by a variant translocation involving 9q34, 22q11.2 and one or more additional genomic regions. The objective of the present study was to characterize, by conventional and molecular cytogenetics, 32 complex variant Philadelphia (Ph) translocations present at diagnosis in patients with CML. The chromosomes most frequently involved were 1 and 5, and the breakpoint most frequently involved was 12p13. The q-chromosome arm was more frequently involved (60%) than the p-arm. The breakpoints were located in the G-light bands in the majority of cases (85%). Additional chromosomal abnormalities were observed in 6 out of 32 (19%) patients. In conclusion, the combination of conventional and molecular cytogenetics studies has allowed us to: i) Detect and quantify the BCR/ABL1 fusion gene; ii) characterize the complex variant translocations and detect cryptic translocations; iii) confirm that the breakpoints are commonly localized in the G-light bands; (iv) confirm that the genesis of variant translocations could be via either the one-step or two-step mechanisms; and v) to report new cases of complex variant translocations.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Spandidos Publications, Ltd.
dc.rights © Spandidos Publications, Ltd.
dc.title Conventional and molecular cytogenetic studies to characterize 32 complex variant philadelphia translocations in patients with chronic myeloid leukemia
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3892/ol.2019.10245
dc.subject.keyword Complex variant Ph chromosome
dc.subject.keyword Chronic myeloid leukemia
dc.subject.keyword Fluorescence in situ hybridization
dc.subject.keyword Karyotype
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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