Lymphoplasmacytic lymphoma/Waldenström macroglobulinemia with inv(16)(p13q22) as a sole genetic abnormality.
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.
Frater
John L
JL
Department 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>
Mirkhaef
Mona
M
Batanian
Jacqueline R
JR
D000369:Aged, 80 and over; D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D058846:Antibodies, Monoclonal, Murine-Derived; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D017809:Fatal Outcome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D008297:Male; D000069283:Rituximab; D008258:Waldenstrom Macroglobulinemia / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
D000911:Antibodies, Monoclonal; D058846:Antibodies, Monoclonal, Murine-Derived; D000970:Antineoplastic Agents; D000069283:Rituximab