title: Isolated bone marrow involvement in diffuse large B cell lymphoma: a report of three cases with review of morphological, immunophenotypic and cytogenetic findings.
abstract: Diffuse large B cell lymphoma (DLBL) comprises a heterogenous entity characterized by the presence of large cells, exhibiting a mature B cell phenotype. The high proliferation rate and aggressive disease remain a therapeutic challenge, but the apparent biological diversity permits a risk-stratification model for prognostic grouping through the International Prognostic Index (IPI). Empirical to this approach is the consideration of cytogenetic data, offering an insight into the pathogenetic events which may underlie neoplastic clonal evolution and disease progression. We describe three cases of DLBL presenting with isolated marrow disease, a rare primary finding in this lymphoma. All three cases showed involvement of blood and bone marrow without evidence of splenic or lymph node involvement on imaging studies. Histological and immunophenotypic findings were similar in all three cases, outlining the phenotypic maturity of this disease. Cytogenetic analysis revealed complex karyotypes in the two cases examined. M-FISH (multicolour fluorescent in situ hybridization) performed on bone marrow from case 1 showed several cryptic translocations not evident on G-banding, including a novel translocation between 2p and 9p, and an unbalanced translocation between 14q and 11q. Cytogenetic analysis in case 2 showed abnormalities involving 7q, 9p at the site of the INK4a gene, and the bcl-2 locus, findings confirmed by M-FISH. These cases serve to highlight the biological and cytogenetic heterogenity of DLBL and emphasize the need for complementary investigations in the characterization of this entity.
authors.affiliation: Academic Department of Haematology and Cytogenetics, The Royal Marsden Hospital, London SW3 6JJ, UK.
authors.forename: Caroline L
authors.initials: CL
authors.lastname: Alvares
authors.forename: Estella
authors.initials: E
authors.lastname: Matutes
authors.forename: Marie A
authors.initials: MA
authors.lastname: Scully
authors.forename: John
authors.initials: J
authors.lastname: Swansbury
authors.forename: Toon
authors.initials: T
authors.lastname: Min
authors.forename: Alicja M
authors.initials: AM
authors.lastname: Gruszka-Westwood
authors.forename: Shayne
authors.initials: S
authors.lastname: Atkinson
authors.forename: Benjamin
authors.initials: B
authors.lastname: Hilditch
authors.forename: Ricardo
authors.initials: R
authors.lastname: Morilla
authors.forename: Andrew C
authors.initials: AC
authors.lastname: Wotherspoon
authors.forename: Daniel
authors.initials: D
authors.lastname: Catovsky
mesh_terms: D000328:Adult; D000368:Aged; D000911:Antibodies, Monoclonal / Q000627:therapeutic use; D058846:Antibodies, Monoclonal, Murine-Derived; D001856:Bone Marrow Examination; D019046:Bone Marrow Neoplasms / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D016130:Immunophenotyping; D016393:Lymphoma, B-Cell / Q000235:genetics / Q000276:immunology / Q000473:pathology; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D008297:Male; D000069283:Rituximab; D014178:Translocation, Genetic; D016896:Treatment Outcome
chemical_list: D000911:Antibodies, Monoclonal; D058846:Antibodies, Monoclonal, Murine-Derived; D000069283:Rituximab