Burkitt lymphoma/leukaemia transformed from a precursor B cell: clinical and molecular aspects

Abstract

Burkitt lymphoma/leukaemia (BL/L) is a heterogeneous disease with respect to epidemiological patterns and cell origin. The occurrence of BL/L with an immature phenotype raises the question whether this phenotype might be a consequence of early B-cell transformation or, alternatively, a secondary feature of transformed, mature B cells. It also poses important clinical questions regarding diagnosis and therapeutic procedures. Here we describe the case of a 4-yr-old child with BL/L and FAB L3 morphology, with phenotypic and genotypic characteristics of a CD10+ precursor B-cell acute lymphoid leukaemia (ALL) associated with t(8;14)(q24;q32). Molecular analysis showed expression of RAG1 and RAG2 and an unmutated VDJCmu immunoglobulin rearrangement coinciding with a lack of AICDA expression, indicating an immature B-cell origin. His clinical response suggested that FAB L3 ALL with MYC rearrangement and an aberrant precursor B-cell phenotype is clinically similar to BL/L. Moreover, short, intensive chemotherapeutic protocols seemed to be beneficial. This case also allowed us to refine the description of cellular and molecular variants of BL/L regarding the cell origin and pathogenesis of this biologically heterogeneous disease.

Nationwide study of pediatric B‐cell precursor acute lymphoblastic leukemia with chromosome 8q24/MYC rearrangement in Japan

“…patients whose karyotype data and immunophenotyping data diagnostic for BCP-ALL were complete and available were analyzed 2,4,12,[14][15][16][17][18][19][20][21] ( Table 3). The blast immunophenotypes reported in these publications were similar to those of our patients, except for positivity [23][24][25] By contrast, the standard treatment for ALL is long-term chemotherapy that comprises three phases: induction, consolidation, and maintenance.…”

Molecular characteristics of terminal deoxynucleotidyl transferase negative precursor B‐cell phenotype Burkitt leukemia with IGH‐MYC rearrangement

“…8 Among cases with a precursor B-cell immunophenotype, [9][10][11][12] only one TdT-negative cases has been reported. 8 Among cases with a precursor B-cell immunophenotype, [9][10][11][12] only one TdT-negative cases has been reported.…”

“…There are limited data regarding optimal management of patients with a precursor B cell phenotype BL with IGH-MYC rearrangement. 9,10 However, Hassan et al 10 reported a patient with a precursor B cell phenotype BL who was treated with a modified ALL-BFM 95 protocol and was alive and in hematological and clinical remission. 11,12 Of the four adult patients with treatment and treatment course available in the reports, treatments were the Hyper-CVAD protocol (two patients), high-risk B-ALL protocol (one patient), and R-CHOP (one patient).…”

“…immunophenotype is a rare type of BL, reported in about 5% of pediatric BL patients. 8 Among cases with a precursor B-cell immunophenotype, [9][10][11][12] only one TdT-negative cases has been reported. 9 We report two additional cases of TdT-negative precursor B cell phenotype BL with IGH-MYC rearrangement.…”

“…11,12 In the pediatric literature, BL treatment was more efficient than the B-ALL treatment. 9,10 However, Hassan et al 10 reported a patient with a precursor B cell phenotype BL who was treated with a modified ALL-BFM 95 protocol and was alive and in hematological and clinical remission. Our case 1 did not achieve remission after both Hyper-CVAD and EPOCH protocols.…”