High-grade B-cell lymphoma with concurrent MYC rearrangement and 11q aberrations: clinicopathologic, cytogenetic, and molecular characterization of 4 cases. 2023

Anna Shestakova, and Lina Shao, and Lauren B Smith, and Russell Ryan, and Victoria Bedell, and Joyce Murata-Collins, and Weiwei Zhang, and Anamarija M Perry, and Joo Y Song
Department of Pathology, University of Utah, Salt Lake City, UT, 84108 USA.

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.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D002051 Burkitt Lymphoma A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative. African Lymphoma,Burkitt Cell Leukemia,Burkitt Tumor,Lymphoma, Burkitt,Burkitt Leukemia,Burkitt's Leukemia,Burkitt's Lymphoma,Burkitt's Tumor,Leukemia, Lymphoblastic, Burkitt-Type,Leukemia, Lymphocytic, L3,Lymphocytic Leukemia, L3,Burkitts Leukemia,Burkitts Lymphoma,Burkitts Tumor,L3 Lymphocytic Leukemia,L3 Lymphocytic Leukemias,Leukemia, Burkitt,Leukemia, Burkitt Cell,Leukemia, Burkitt's,Leukemia, L3 Lymphocytic,Lymphoma, African,Lymphoma, Burkitt's,Tumor, Burkitt,Tumor, Burkitt's
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D015321 Gene Rearrangement The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development. DNA Rearrangement,DNA Rearrangements,Gene Rearrangements,Rearrangement, DNA,Rearrangement, Gene,Rearrangements, DNA,Rearrangements, Gene
D016271 Proto-Oncogene Proteins c-myc Basic helix-loop-helix transcription factors encoded by the c-myc genes. They are normally involved in nucleic acid metabolism and in mediating the cellular response to growth factors. Elevated and deregulated (constitutive) expression of c-myc proteins can cause tumorigenesis. L-myc Proteins,N-myc Proteins,c-myc Proteins,myc Proto-Oncogene Proteins,p62(c-myc),Proto-Oncogene Products c-myc,Proto-Oncogene Proteins myc,myc Proto-Oncogene Product p62,p62 c-myc,L myc Proteins,N myc Proteins,Proteins myc, Proto-Oncogene,Proto Oncogene Products c myc,Proto Oncogene Proteins c myc,Proto Oncogene Proteins myc,Proto-Oncogene Proteins, myc,c myc Proteins,myc Proto Oncogene Product p62,myc Proto Oncogene Proteins,myc, Proto-Oncogene Proteins,p62 c myc
D016403 Lymphoma, Large B-Cell, Diffuse Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation. Diffuse Large B-Cell Lymphoma,Diffuse, Large B-Cell, Lymphoma,Histiocytic Lymphoma, Diffuse,Lymphoma, Histiocytic, Diffuse,Diffuse Large-Cell Lymphoma,Histiocytic Lymphoma,Large Lymphoid Lymphoma, Diffuse,Large-Cell Lymphoma, Diffuse,Lymphoma, Diffuse Large-Cell,Lymphoma, Histiocytic,Lymphoma, Large Cell, Diffuse,Lymphoma, Large Lymphoid, Diffuse,Lymphoma, Large-Cell, Diffuse,Diffuse Histiocytic Lymphoma,Diffuse Histiocytic Lymphomas,Diffuse Large B Cell Lymphoma,Diffuse Large Cell Lymphoma,Diffuse Large-Cell Lymphomas,Histiocytic Lymphomas,Large Cell Lymphoma, Diffuse,Lymphoma, Diffuse Histiocytic,Lymphoma, Diffuse Large Cell

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