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

Costa,Dolors; Grau,Javier; Espinet,Blanca; Arias,Amparo; Gómez,Cándida; López-Guerra,Mónica; Nomdedeu,Meritxell; Cervantes,Francisco

doi:10.3892/ol.2019.10245

June-2019 Volume 17 Issue 6

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June-2019 Volume 17 Issue 6

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Article

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
View Affiliations / Copyright

Affiliations: Hematopathology Section, Hospital Clínic, Barcelona, Catalonia 08036, Spain, Hospital Germans Trias i Pujol, Badalona, Catalonia 08916, Spain, Molecular Cytogenetics Laboratory, Pathology Service, Hospital del Mar, Barcelona, Catalonia 08003, Spain, Department of Hematology, Hospital Plató, Barcelona, Catalonia 08006, Spain, Department of Hematology, Hospital Clínic, IDIBAPS, Barcelona, Catalonia 08036, Spain
Pages: 5705-5710
|
Published online on: April 12, 2019

https://doi.org/10.3892/ol.2019.10245
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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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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

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

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