BCR-ABL1 Fusion Patterns Identified by Fluorescence in situ Hybridization (FISH) in Chronic Myeloid Leukemia (CML)
BCR/ABL1 Fusion Patterns Identified by FISH
Keywords:
Chronic Myeloid Leukemia; BCR/ABL1; Fluorescence in situ HybridizationAbstract
BCR-ABL1 gene rearrangement is believed to be the most common molecular genetic abnormality in chronic myeloid leukemia (CML). This fusion has been assessed using the fluorescence in situ hybridization (FISH) technique. This study aimed to identify the FISH signal patterns observed in a large cohort of patients in order to provide the necessary information and a guideline for CML treatment. Blood or bone marrow samples from 431 patients diagnosed as suspected CML were processed by standard FISH procedures for identifying BCR-ABL1 translocation using XL BCR-ABL1 Plus Translocation/Dual Fusion Probe. One hundred forty-seven samples (34.11%) were positive for BCR-ABL1 fusion, while 284 cases (65.89%) were negative. For positive BCR-ABL1 fusion, the typical signal pattern was seen in 103 patients (70%). Atypical signal patterns were found in the remaining 44 cases (30%) which included 8.84% of multiple patterns. Besides, we also found 0.68% deletion of BCR locus, 1.36% three copies of ABL1, and 0.68% four copies of BCR with four copies of AML1. For CML, the FISH assay has an advantage to support diagnosis, especially in the laboratory that cannot have the facility to perform karyotyping. Therefore, monitoring the BCR-ABL1 signal pattern identified by FISH is an effective way to provide prognostic guidance and treatment options for CML patients and can be used to predict disease progression and relapse.
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