Characterization of the morphological, immunophenotypical and cytogenetic features of high-grade B-cell lymphoma with 11q aberration.

Abstract

Aims: High-grade B-cell lymphoma with 11q aberration is a rare neoplasm of mature B-cell lineage, and large-scale clinicopathological studies of this disease remain scarce. To bridge this research gap, we conducted a retrospective analysis of HGBCL with 11q aberration, aiming to elucidate its pathogenesis, clinicopathological features and molecular profiles.

Methods and results: By reviewing our hospital's case database from 2021 to 2025, we retrospectively screened 92 cases of high-grade or diffuse large B-cell lymphoma that had 11q fluorescence in situ hybridization (FISH) testing. Among them, 27 cases were confirmed to harbour 11q aberration and were enrolled in the present study. This cohort consisted of 24 males and 3 females with a median age of 61 years (range, 6-85). Eighteen (67%) patients presented with extranodal disease and nine (33%) had nodal disease. The gastrointestinal tract was the most commonly involved extranodal site (13 patients); two of these patients had concurrent lymph node involvement in the head and neck. Fourteen (52%) patients had advanced Ann Arbor stage (III, IV) disease. Eight (30%) patients had a history of immunocompromise including HIV infection, liver or kidney transplantation and other malignant tumours. The bone marrow was negative for lymphoma at initial diagnosis in all 21 patients assessed. Histologically, 20 (74%) cases had Burkitt-like or blastoid morphology and seven (26%) cases showed diffuse large B-cell-like morphology. Most cases (96%, 26/27) had a germinal centre B-cell immunophenotype. c-MYC was positive in all 26 tested cases and BCL2 was negative in 24 of 27 (89%) of cases. Mutational analysis was performed in 14 cases and potential driver mutations were identified in all involving 44 genes. The most frequently affected genes included TP53, IGLL5, DDX3X, BTG2, FOXO1, HIST1H1E and MYC. Following therapy, 24 patients achieved complete remission and disease-free survival. The prognosis was not related to the morphological features, Ann Arbor stage, co-occurrence of MYC aberrations or the chemotherapy regimens.

Conclusions: High-grade B-cell lymphoma with 11q aberration may occur across all ages and confers a favourable prognosis. These tumours manifest morphological heterogeneity, and most cases display a Burkitt lymphoma-like immunophenotype characterized by CD10 positivity and BCL2 negativity. The most frequently mutated genes in our cohort are TP53, IGLL5, DDX3X, BTG2, FOXO1, HIST1H1E and MYC.