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.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.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.doi http://dx.doi.org/10.3892/ol.2019.10245
- dc.identifier.issn 1792-1074
- dc.identifier.uri http://hdl.handle.net/10230/44017
- dc.language.iso eng
- dc.publisher Spandidos Publications, Ltd.
- dc.rights © Spandidos Publications, Ltd.
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- 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.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.type.version info:eu-repo/semantics/publishedVersion