Isolated bone marrow involvement in diffuse large B cell lymphoma: A report of three cases with review of morphological, immunophenotypic and cytogenetic findings

Caroline L. Alvares, Estella Matutes, Marie A. Scully, John Swansbury, Toon Min, Alicja M. Gruszka-Westwood, Shayne Atkinson, Benjamin Hilditch, Ricardo Morilla, Andrew C. Wotherspoon, Daniel Catovsky

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)769-775
Number of pages7
JournalLeukemia and Lymphoma
Volume45
Issue number4
DOIs
Publication statusPublished - Apr 2004

Keywords

  • Bone marrow involvement
  • Complex karyotype
  • Diffuse large B cell lymphoma

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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