Conventional and molecular cytogenetic studies to characterize 2 complex variant Philadelphia translocations in patients with chronic myeloid leukemia

  • Authors:
    • Dolors Costa
    • Javier Grau
    • Blanca Espinet
    • Amparo Arias
    • Cándida Gómez
    • Mónica López-Guerra
    • Meritxell Nomdedeu
    • Francisco Cervantes
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  • Published online on: April 12, 2019     https://doi.org/10.3892/ol.2019.10245
  • Pages: 5705-5710
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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.
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June 2019
Volume 17 Issue 6

Print ISSN: 1792-1074
Online ISSN:1792-1082

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APA
Costa, D., Grau, J., Espinet, B., Arias, A., Gómez, C., López-Guerra, M. ... Cervantes, F. (2019). Conventional and molecular cytogenetic studies to characterize 2 complex variant Philadelphia translocations in patients with chronic myeloid leukemia. Oncology Letters, 17, 5705-5710. https://doi.org/10.3892/ol.2019.10245
MLA
Costa, D., Grau, J., Espinet, B., Arias, A., Gómez, C., López-Guerra, M., Nomdedeu, M., Cervantes, F."Conventional and molecular cytogenetic studies to characterize 2 complex variant Philadelphia translocations in patients with chronic myeloid leukemia". Oncology Letters 17.6 (2019): 5705-5710.
Chicago
Costa, D., Grau, J., Espinet, B., Arias, A., Gómez, C., López-Guerra, M., Nomdedeu, M., Cervantes, F."Conventional and molecular cytogenetic studies to characterize 2 complex variant Philadelphia translocations in patients with chronic myeloid leukemia". Oncology Letters 17, no. 6 (2019): 5705-5710. https://doi.org/10.3892/ol.2019.10245