Cytogenetic abnormalities additional to t(11;14) correlate with clinical features in leukaemic presentation of mantle cell lymphoma, and may influence prognosis: a study of 60 cases by FISH

• Published in: British journal of haematology 2007-04, Vol.137 (2), p.117-124
• Main Authors: Parry‐Jones, N., Matutes, E., Morilla, R., Brito‐Babapulle, V., Wotherspoon, A., Swansbury, G.J., Catovsky, D.
• Format: Article
• Language: English
• Subjects: ADP-ribosyl Cyclase 1 - blood; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Biomarkers, Tumor - blood; Chromosome Aberrations; Chromosome Deletion; Chromosomes, Human, Pair 11 - genetics; Chromosomes, Human, Pair 14 - genetics; Epidemiologic Methods; Female; fluorescence in situ hybridisation; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; leukaemia; Leukemia - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Lymphoma, Mantle-Cell - genetics; Male; mantle cell lymphoma; Medical genetics; Medical sciences; Middle Aged; Prognosis; Translocation, Genetic
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/j.1365-2141.2007.06526.x

Summary Mantle cell lymphoma (MCL), characterised by t(11;14)(q13;q32), has a poor prognosis. Many cases have additional cytogenetic abnormalities, and often have a complex karyotype. Fluorescence in situ hybridisation (FISH) was used to study 60 cases with leukaemic presentation of MCL, to determine the frequency, clinical correlations and prognostic impact of a panel of molecular cytogenetic abnormalities: 17p13 (TP53 locus), 13q14, 12 p11·1‐q11 (centromere), 6q21 and 11q23. CD38 expression, of prognostic value in chronic lymphocytic leukaemia (CLL), was also studied, and correlations with clinical and cytogenetic abnormalities sought. Eighty per cent of cases had at least one abnormality in addition to t(11;14). Deletions at 17p13 (TP53) and 13q14 were most frequent and involved the majority of the leukaemic clone. Cases with TP53 deletion were more likely to have splenomegaly and marked leucocytosis (>30 × 109/l), and less likely to have lymphadenopathy than those without deletion. Deletions at 11q23 and 6q21 were associated with extranodal disease. 13q14 and 11q23 deletions showed a trend towards worse prognosis by univariate analysis. In multivariate analysis, deletions at 13q14 and 6q21 were independent predictors of poor outcome. Deletion at 17p13 did not show prognostic impact in this series. CD38, positive in two‐thirds of cases, was associated with male gender and nodal disease but not with any cytogenetic abnormality, or with survival.