Successful identification of complex rearrangements involving multiple chromosomes in burkitt-type/mature B-cell acte lymphoblastic leukemia: further emphasis on spectral karyotyping

Abstract

Mature B-cell acute lymphoblastic leukemia (ALL) or Burkitt-type ALL is a rare entity and can be defined as the leukemic manifestation of Burkitt lymphoma (BL).1 BL is a highly aggressive B-cell malignancy and can be endemic, sporadic, or associated with immunodeficiency.2,3 Sporadic BL accounts for 1-2% of all adult lymphoma in Western Europe and the United States.2 Mature B-cell ALL is characterized by the expression of pan-/mature B-cell antigens (e.g., HLA-DR, CD19, cyCD22, and CD79α), together with surface immunoglobulin (sIg) accompanying light chain restriction, the association of an L3 morphology according to the FAB classification, and the presence of 8q24/MYC rearrangement.1-3 The MYC gene is most frequently found to be translocated into the Ig heavy chain locus (IGH), resulting in t(8;14)(q24;q32), whereas the less frequently observed variant translocations, t(2;8)(p12;q24) or t(8;22)(q24;q11), juxtapose MYC to the light chain kappa or lambda locus, respectively.1-3 However, there are often discrepancies between the morphology, immunophenotype, and genotype, leading to a heterogenous disease spectrum.