Late appearance of the 11q22.3-23.1 deletion involving the ATM locus in B-cell chronic lymphocytic leukemia and related disorders. Clinico-biological significance

Antonio Cuneo, Renato Bigoni, Gian Mateo Rigolin, Maria Grazia Roberti, Antonella Bardi, Francesco Cavazzini, Raffaella Milani, Claudia Minotto, Alessia Tieghi, Matteo Della Porta, Paola Agostini, Elisa Tammiso, Massimo Negrini, Gianluigi Castoldi

Research output: Contribution to journalArticle

Abstract

Background and Objectives. Chromosome 11q22.3-23.1 deletions involving the ataxia-teleangiectasia mutated (ATM) locus (11q-/ATM+/-) are detected at diagnosis in 10-20% of cases of B-cell chronic lymphocytic leukemia (CLL) and are associated with a relatively aggressive disease. The aim of this study was to ascertain whether 11q-/ATM+/- may appear late during the course of the disease and to analyze its possible correlation with disease evolution. Design and Methods. Eighty-two patients with CLL and related disorders, i.e. CLL/PL and prolymphocytic leukemia (PLL), without 11q- at diagnosis were sequentially ascertained at 1-2 year intervals by conventional cytogenetic analysis (CCA) and fluorescence in situ hybridization (FISH), using an ATM-specific probe. Results. Eight patients acquired a submicroscopic 11q deletion 13-43 months after diagnosis: the diagnosis at presentation was CLL in 3 cases, CLL/PL in 3 cases and PLL in 2 cases. A 13q14 deletion preceded the development of 11q- in four patients; additional aberrations included +12 (three cases), 17p13 deletion and 6q21 deletion (one case each). The acquisition of the 11q deletion was more frequently found in those patients presenting with CLL/PL and PLL than typical CLL (p=0.0016) and with splenomegaly (p=0.003). Follow-up data showed that karyotype evolution (p=0.009) and cytological transformation (p

Original languageEnglish
Pages (from-to)44-51
Number of pages8
JournalHaematologica
Volume87
Issue number1
Publication statusPublished - 2002

Keywords

  • 11q deletion
  • ATM locus
  • Chronic lymphocytic leukemia

ASJC Scopus subject areas

  • Hematology

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    Cuneo, A., Bigoni, R., Rigolin, G. M., Roberti, M. G., Bardi, A., Cavazzini, F., Milani, R., Minotto, C., Tieghi, A., Porta, M. D., Agostini, P., Tammiso, E., Negrini, M., & Castoldi, G. (2002). Late appearance of the 11q22.3-23.1 deletion involving the ATM locus in B-cell chronic lymphocytic leukemia and related disorders. Clinico-biological significance. Haematologica, 87(1), 44-51.