Unreported combination of rearrangements in a childhood B-cell acute lymphoblastic leukemia case: Coexistence of translocation t(8;14) and monoallelic loss of tumor suppressor gene TP53

Abstract Introduction B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a clinically and biologically heterogeneous disease resulting from the accumulation of genetic alterations in B lymphoid precursor cells, and represents the most common malignant hematopoietic disease in childhood. Approximately 75% of BCP-ALL cases harbor a recurrent chromosomal alteration detectable by banding cytogenetic approaches. Some of these recurrent abnormalities define ALL subgroups and are used for risk stratification. However, coexistence of two normally independent, primary genetic aberrations within the same clone is rare in ALL. Case presentation Here we report an 8-year-old Syrian boy with B-ALL. He presented at diagnosis with two cytogenetic events, yet unreported to appear in common, i.e. a reciprocal translocation t(8;14) leading to cMYC / IGH gene fusion, and monoallelic loss of tumor suppressor gene TP53 . This patient received treatment with prednisolone according to ALL Intercontinental Berlin-Frankfurt-Munster (IC-BFM) 2002 chemotherapy protocol but he relapsed early. Bone marrow and central nervous system were finally involved and he died within 6 months after initial diagnosis due to intracranial hemorrhage. Conclusion The reported combination of aberrations in a childhood case of BCP-ALL here seems to indicate an adverse prognosis, and shows that otherwise independent predictive chromosomal aberrations may arise also together.