Chromosome anomalies detected by interphase fluorescence in situ hybridization: correlation with significant biological features of B-cell chronic lymphocytic leukaemia

Authors: Dewald G.W.1; Brockman S.R.1; Paternoster S.F.1; Bone N.D.2; O'Fallon J.R.3; Allmer C.3; James C.D.4; Jelinek D.F.5; Tschumper R.C.5; Hanson C.A.6; Pruthi R.K.2; Witzig T.E.2; Call T.G.2; Kay N.E.2

Source: British Journal of Haematology, Volume 121, Number 2, April 2003 , pp. 287-295(9)

Publisher: Blackwell Publishing

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Abstract:

Summary.

Fluorescence in situ hybridization (FISH) was used to detect 6q–, 11q–, +12, 13q–, 17p– and translocations involving 14q32 in interphase nuclei from blood and/or bone marrow from 113 patients with B-cell chronic lymphocytic leukaemia (B-CLL). A total of 87 patients (77%) had a FISH anomaly: 13q– × 1 was most frequent (64%) followed by 13q– × 2 (28%), +12 (25%), 11q– (15%), 17p– (8%) and 6q– (0%). FISH results for blood and bone marrow cells in 38 patients were similar. Purified CD5+/CD19+ cells from blood were studied in eight patients and results indicate that in some patients not all B cells have FISH anomalies. We used a defined set of hierarchical FISH risk categories to compare FISH results by stable versus progressive disease, age, sex, Rai stage, CD38+ expression and IgVH mutational status. Significant differences in FISH risk distributions were associated with Rai stage, disease status and CD38+, but not by age, sex or IgVH mutational status. To look for baseline factors associated with high-risk disease, multivariate analysis of age, sex, Rai stage, CD38+ and disease status versus FISH risk category was performed. Importantly, only CD38+ was significantly associated with high-risk FISH categories (+12, 11q– and 17p–) after adjustment for the effects of other variables.

Keywords: B-CLL; Rai stage; FISH; CD38 expression; IgVH mutations

Document Type: Research article

DOI: 10.1046/j.1365-2141.2003.04265.x

Affiliations: 1: Division of Laboratory Genetics, 2: Division of Hematology, 3: Department of Biostatistics, 4: Division of Experimental Pathology, 5: Department of Immunology, and 6: Division Hematopathology Mayo Clinic, Rochester, MN, USA

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