Conventional and molecular cytogenetic studies to characterize 32 complex variant Philadelphia translocations in patients with chronic myeloid leukemia
Por:
Costa, D, Grau, J, Espinet, B, Arias, A, Gomez, C, Lopez-Guerra, M, Nomdedeu, M and Cervantes, F
Publicada:
1 jun 2019
Ahead of Print:
12 abr 2019
Resumen:
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.
Filiaciones:
Costa, D:
Hosp Clin Barcelona, Hematopathol Sect, 170 Villarroel, Barcelona 08036, Catalonia, Spain
:
Hosp Badalona Germans Trias & Pujol, Badalona 08916, Catalonia, Spain
Espinet, B:
Hosp del Mar, Pathol Serv, Mol Cytogenet Lab, Barcelona 08003, Catalonia, Spain
Arias, A:
Hosp Clin Barcelona, Hematopathol Sect, 170 Villarroel, Barcelona 08036, Catalonia, Spain
Gomez, C:
Hosp Clin Barcelona, Hematopathol Sect, 170 Villarroel, Barcelona 08036, Catalonia, Spain
Lopez-Guerra, M:
Hosp Clin Barcelona, Hematopathol Sect, 170 Villarroel, Barcelona 08036, Catalonia, Spain
Nomdedeu, M:
Hosp Plato, Dept Hematol, Barcelona 08006, Catalonia, Spain
Cervantes, F:
IDIBAPS, Hosp Clin, Dept Hematol, Barcelona 08006, Catalonia, Spain
gold, Green Published
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