A girl with Burkitt Lymphoma and complex karyotype

Burkitt Lymphoma (BL) is a mature B-cell malignancy that arises from germinal center B-cells, characterized by its unique immunophenotypes and typically presenting with a relatively simple karyotype. However, recent studies have demonstrated that the presence of a complex karyotype (CK) can significantly compromise prognosis in pediatric patients with BL as well as diffuse large B-cell lymphomas (DLBCL). This report highlights the case of a ۱۰-year-old female who was diagnosed with BL according to WHO criteria. At the time of diagnosis, she exhibited positive markers, including CD۱۰, CD۱۹, CD۲۰, iCD۷۹α, CD۴۵, HLA-DR, and Kappa, alongside an alarming complex karyotype. The patient initially presented with an ocular mass, indicating aggressive disease, and bone marrow involvement, where leukemic cells constituted ۹۳% of her blast cells upon examination. Fluorescence in situ hybridization (FISH) analysis confirmed the presence of genetic anomalies such as t(۸;۱۴)(q۲۴.۱;q۳۲) and MYC gene rearrangement in ۶۵% and ۵۵% of analyzed cells, respectively. Chromosomal evaluation further revealed an abnormal female karyotype with numerous rearrangements, including the presence of ۴۳~۴۸, XX, +X, +۱, -۳, del(۶)(q۲۱q۲۳), t(۸;۱۴)(q۲۴;q۳۲), der(۹)t(۹;?)(p۲۴;?), -۱۰, del(۱۱)(q۲۳), +der(۱۲)t(۱۲;?)(p۱۳;?), -۱۳, -۱۷, +۱۹, +۲۱ or +mar [۲۱] /۴۶, XX[۴]. These findings suggest potential secondary chromosomal aberrations involved in lymphomagenesis. The identification of a complex karyotype clearly indicates a poor prognosis for the patient. Burkitt lymphoma frequently presents with a high incidence of genetic abnormalities, with about ۳۰-۵۰% of cases exhibiting complex karyotypes. Research has found that children possessing complex karyotypes often demonstrate aggressive disease behavior, which includes advanced-stage presentations and notably lower survival rates. This heightened genomic instability is likely contributing to additional mutations that complicate treatment. Recognizing the implications of complex karyotypes is crucial for customizing treatment strategies, as affected patients may necessitate more aggressive therapeutic interventions. Furthermore, an in-depth understanding of chromosomal abnormalities not only aids in making prognostic predictions but also plays a vital role in guiding significant treatment decisions in pediatric patients afflicted with this aggressive malignancy.

کلیدواژه ها:

Burkitt lymphoma ، Complex karyotype ، MYC gene rearrangement