title: Serial phenotypic, cytogenetic and molecular genetic studies in Richter's syndrome: demonstration of lymphoma development from the chronic lymphocytic leukaemia cells.
abstract: In this report we describe a unique longitudinal study on the clinical, phenotypic, cytogenetic and molecular genetic features of malignant cells from diagnosis of chronic lymphocytic leukaemia (CLL) to the development of lymphoma and lymphomatous meningitis. CLL cells at diagnosis were CD5+, CD19+, surface IgG+, kappa+, were karyotypically abnormal and showed clonal rearrangements in the immunoglobulin heavy (IgH) and kappa light chain genes. Phenotypically leukaemic cells and lymphoma cells at RS resembled CLL at diagnosis, but showed cytogenetic evolution. Geometrically leukaemic cells and lymphoma cells retained the initial clonal rearrangements in IGH and kappa genes, but showed additional supervening clonal rearrangements in both of these genes as the disease progressed to RS. Furthermore, the c-lambda DNA showed clonal rearrangements in the leukaemic cells and lymphoma cells at RS. This complete phenotypic and genotypic analysis of tumour cells during the course of the disease demonstrates the origin of lymphoma from CLL cells through progressive cytogenetic and molecular genetic changes in CLL cells.
authors.affiliation: Department of Laboratories, North Shore University Hospital-Cornell University Medical College, Manahasset, N.Y. 11030.
authors.forename: P R
authors.initials: PR
authors.lastname: Koduru
authors.forename: S M
authors.initials: SM
authors.lastname: Lichtman
authors.forename: T F
authors.initials: TF
authors.lastname: Smilari
authors.forename: T
authors.initials: T
authors.lastname: Sun
authors.forename: J C
authors.initials: JC
authors.lastname: Goh
authors.forename: L
authors.initials: L
authors.lastname: Karp
authors.forename: W
authors.initials: W
authors.lastname: Hall
authors.forename: S
authors.initials: S
authors.lastname: Hashimoto
authors.forename: N
authors.initials: N
authors.lastname: Chiorazzi
authors.forename: J D
authors.initials: JD
authors.lastname: Broome
mesh_terms: D015139:Blotting, Southern; D002869:Chromosome Aberrations; D005260:Female; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain; D015328:Gene Rearrangement, B-Lymphocyte, Light Chain; D006801:Humans; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D008137:Longitudinal Studies; D008228:Lymphoma, Non-Hodgkin / Q000235:genetics*; D008577:Meningeal Neoplasms / Q000235:genetics*; D008875:Middle Aged; D016609:Neoplasms, Second Primary / Q000235:genetics*; D013577:Syndrome