Abstract

Background: Acute lymphoblastic leukemia (ALL) is a hematologic malignancy which results from accumulation of lymphoid progenitor cells in the bone marrow and/or extramedullary sites. Philadelphia chromosome (Ph1) positive ALL, a high-risk cytogenetic subset, accounts for 25-30% of adult ALL cases but occurs in less than 5% of children. We aimed with this study to detect BCR-ABL genes fusion, amplification and deletion in ALL patients, using extrasignal- fluorescence in situ hybridization (ES-FISH), and to assess their relation with other standard prognostic factors and therapeutic response.

Patients and methods: This study was carried out on 39 newly diagnosed ALL patients. All patients were subjected to; history, clinical examination and laboratory investigations, which included complete blood count (CBC), peripheral blood (PB), bone marrow (BM) examination, immunophenotyping and fluorescence in situ hybridization using extra-signal probe to detect BCR-ABL genes fusion.

Results: This study showed statistical analysis of patients’ t(9;22) with other factors revealed significant association (p<0.05) of  t(9;22) with patients outcome,  age  >35 years, hepatosplenomegaly, absence of lymphadenopathy, TLC ≥50X109/L,  absolute PB blasts ≥4.4X109/L, immunophenotyping and other aberrations.

Conclusion: BCR/ABL fusion gene analysis by ES-FISH may serve as a prognostic marker in adulthood ALL. The age, TLC and t(9;22) represent the significant standard prognostic factors in relation to patients' outcome.