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Published on: August 23, 2024
Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia with inv(16)(p13q22) as a sole genetic abnormality
John L Frater1, Mona Mirkhaef, Jacqueline R Batanian
1Department of Pathology, Saint Louis University School of Medicine, 1402 South Grant Blvd., St. Louis, MO 63104, USA. jfrater@path.wustl.edu <jfrater@path.wustl.edu>
Abstract:
Inversion of chromosome 16, inv(16)(p13q22), juxtaposes the core binding factor beta (CBFB) and myosin heavy chain 11 (MYH11) genes, resulting in a myeloid leukemic disease phenotype characterized by increased bone marrow and peripheral blood blasts with myelomonocytic antigen expression and an accompanying eosinophilia. This cytogenetic abnormality has been reported in a variety of other neoplasms, in which it generally occurs as part of a complex karyotype, including rare B-lineage non-Hodgkin lymphomas. We report a case of clinically, morphologically, and immunologically typical lymphoplasmacytic lymphoma/Waldenström macroglobulinemia in which a majority of the malignant cells had an inv(16)(p13q22) as a sole abnormality. We review the literature and discuss the possible role of this genetic lesion in B-cell neoplasia.
