A new dual translocation of chromosome 14 in a pediatric Burkitt lymphoma/leukemia patient: t(8;14) and t(14;15).

Burkitt lymphoma/leukemia (BL/L) is an aggressive mature B-cell malignancy cytogenetically characterized by the translocation t(8;14)(q24;q32) or its variants, which determines the juxtaposition of the MYC oncogene to one of the three immunoglobulin loci. In addition to MYC translocations, different secondary genetic abnormalities have been described, some of them with prognostic significance. However, dual translocations of chromosome 14, except those involving chromosome 18, are very rare events in this pathology. Herein, we present the coexistence of translocations t(8;14) and t(14;15) in a pediatric BL/L patient. To our knowledge, this is the first report of a translocation t(14;15)(q32;q22) as a secondary alteration in a BL/L patient. The patient had multiple complications at diagnosis but he evolved favorably reaching complete remission. The description of new secondary alterations in this pathology as well as their impact on clinical evolution, add information to the biological characterization of BL, contributing to a higher accuracy in the diagnosis and/or prognosis of the disease.

An unusual translocation, t(1;11)(q21;q23), in a case of chronic myeloid leukemia with a cryptic Philadelphia chromosome.

Chronic myeloid leukemia (CML) is characterized by the translocation t(9;22)(q34;q11) [Philadelphia (Ph) chromosome). Although not frequently occurring, additional chromosome abnormalities (ACAs) can be detected at diagnosis and a number have been associated with an adverse cytogenetic and molecular outcome. The present study reports a case of CML presenting with the translocation t(1;11)(q21;q23) and a cryptic Ph chromosome. The presence of ACAs could generate greater genetic instability, promoting the emergence of further alterations. The present findings suggest that t(1;11)(q21;q23) can prevent a good response to tyrosine kinase inhibitor (TKI) therapy developing a primary resistance. In the present patient, at a recent follow-up, the T315I mutation was detected. This mutation confers full resistance to all available TKI, except ponatinib, which was not a therapeutic option due to comorbidities.