High-grade B-cell lymphoma with concurrent MYC rearrangement and 11q aberrations: clinicopathologic, cytogenetic, and molecular characterization of 4 cases

High-grade B-cell lymphoma with 11q aberrations (LBL-11q) resembles Burkitt lymphoma (BL), is negative for MYC rearrangement, and harbors chromosome 11q aberrations. Rare cases of high-grade B-cell lymphoma with concurrent MYC rearrangement and 11q aberrations (HGBCL-MYC-11q) have been described. In...

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Bibliographic Details
Published in:Human pathology 2023-06, Vol.136, p.34-43
Main Authors: Shestakova, Anna, Shao, Lina, Smith, Lauren B., Ryan, Russell, Bedell, Victoria, Murata-Collins, Joyce, Zhang, Weiwei, Perry, Anamarija M., Song, Joo Y.
Format: Article
Language:English
Subjects:
11q aberrations
Adult
Burkitt lymphoma
Burkitt Lymphoma - diagnosis
Burkitt Lymphoma - genetics
Burkitt Lymphoma - pathology
Burkitt-like lymphoma
Chromosome Aberrations
Diffuse large B-cell lymphoma
Female
Gene Rearrangement
High-grade B-cell lymphoma
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Lymphoma, Large B-Cell, Diffuse - genetics
Lymphoma, Large B-Cell, Diffuse - pathology
Male
MYC rearrangement
Proto-Oncogene Proteins c-myc - genetics
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Summary:High-grade B-cell lymphoma with 11q aberrations (LBL-11q) resembles Burkitt lymphoma (BL), is negative for MYC rearrangement, and harbors chromosome 11q aberrations. Rare cases of high-grade B-cell lymphoma with concurrent MYC rearrangement and 11q aberrations (HGBCL-MYC-11q) have been described. In this study, we report the clinicopathologic, cytogenetic, and molecular findings in 4 such cases. Diagnoses were made on tissue or bone marrow biopsies. Karyotype, fluorescence in situ hybridization, genomic microarray analyses, and next-generation sequencing were performed. All patients were male (median age, 39 years). Three cases were diagnosed as BL, while one was diagnosed as diffuse large B-cell lymphoma. Karyotypes (available in 2 patients) were complex. In 1 patient, copy number analysis showed gains at 1q21.1-q44 and 13q31.3 and loss of 13q34, abnormalities typically seen in BL. All of our cases showed 2 or more mutations that are recurrent in BL, including ID3, TP53, DDX3X, CCND3, FBXO1, and MYC. Two cases showed a GNA13 mutation, commonly seen in LBL-11q. Cases of HGBCL-MYC-11q display overlapping morphologic and immunophenotypic, as well as cytogenetic and molecular features between BL and LBL-11q, with a mutational landscape enriched for mutations recurrent in BL. Concurrent MYC rearrangement with 11q abnormalities is important to recognize, especially as it has implications for their classification. •Rare cases of high-grade B-cell lymphoma have concurrent MYC rearrangement and 11q aberrations.•These cases overlap with Burkitt lymphoma and high-grade B-cell lymphoma with 11q aberrations.•They are enriched for mutations recurrent in Burkitt lymphoma.
ISSN:0046-8177
1532-8392
DOI:10.1016/j.humpath.2023.03.013