Article
Triple-Hit Expression of MYC, BCL-2, and BCL-6 in a Primary Bone Marrow Large B-Cell Lymphoma
American Journal of Clinical Pathology
(2014)
Abstract
Large B-cell lymphomas with aberrant expression of MYC, BCL-2, and BCL-6 are known as triple-hit lymphomas. De novo triple-hit large B-cell lymphomas are rare and often diagnosed as B-cell lymphoma unclassifiable with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (WHO 2008). These lymphomas tend to have systemic involvement and manifest aggressive behavior with poor prognosis. We describe a case of primary bone marrow large B-cell lymphoma with triple-hit genetic alterations and clinical follow-up. A 69-year-old woman with weakness, anemia, and severe thrombocytopenia showed abnormal bone marrow signaling by MRI suspicious for malignancy. Bone marrow samples were sent for histologic, flow cytometry, cytogenetic, and FISH studies. Bone marrow aspirate revealed blastoid large lymphoma cells with basophilic vacuolated cytoplasm, resembling Burkitt lymphoma. Histologic examination showed extensive involvement by large cell lymphoma with frequent mitoses and apoptosis. Immunophenotyping by flow cytometry was consistent with mature large B-cell lymphoma (CD10+). Cytogenetics revealed a complex karyotype with 45–49 chromosomes and multiple structural abnormalities including t(2;8)(p12;q24) and t(14;18)(q32;q21). FISH analysis revealed MYC gene rearrangement, partial BCL-6 gene deletion, and IgH/BCL-2 gene rearrangement, consistent with triple-hit lymphoma. CT and PET scan revealed no evidence of lymphadenopathy. Flow cytometry analysis of CNS and peritoneal fluids failed to detect lymphoma. The patient received chemotherapy with hyper-CAVD and has been in remission for 4 months, with negative repeat bone marrow biopsy. Triple-hit large B-cell lymphoma of bone marrow has been rarely reported. In our case, the neoplastic cells show characteristic morphologic and genetic features for this type of lymphoma. Recognizing Burkitt-like morphology with proper molecular genetic evaluation will help establishing the correct diagnosis. Molecular characterization of this lymphoma is very important in the clinical management and treatment decisions. Although our patient is currently in remission, the long-term clinical outcome remains to be determined.
Disciplines
Publication Date
January 10, 2014
DOI
10.1093/ajcp/142.suppl1.128
Citation Information
Ming Xie, MD, FASCP, James Huang, Xia Chen, Elizabeth Wey, Mark Micale, Triple-Hit Expression of MYC, BCL-2, and BCL-6 in a Primary Bone Marrow Large B-Cell Lymphoma, American Journal of Clinical Pathology, Volume 142, Issue suppl_1, October 2014, Page A128, https://doi.org/10.1093/ajcp/142.suppl1.128