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, 182 (5), 705-711

The Presence of Mutated and Deleted PTEN Is Associated With an Increased Risk of Relapse in Childhood T Cell Acute Lymphoblastic Leukaemia Treated With AIEOP-BFM ALL Protocols

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The Presence of Mutated and Deleted PTEN Is Associated With an Increased Risk of Relapse in Childhood T Cell Acute Lymphoblastic Leukaemia Treated With AIEOP-BFM ALL Protocols

Maddalena Paganin et al. Br J Haematol.

Abstract

Notwithstanding the improvement in treatment results for paediatric T cell acute lymphoblastic leukaemia (T-ALL) it remains important to understand if genetic aberrations influence therapy response. PTEN tumour suppressor gene inactivation is a frequent event in T-ALL but its effect on patient therapy response is debatable. We analysed the effect of the presence of mutated PTEN on outcome in 257 children with T-ALL treated with Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP)-Berlin-Frankfürt-Münster (BFM) protocols. PTEN mutations were present in 31 (12·1%) patients and were significantly associated with increased risk of relapse. PTEN mutations also indicate a poor prognosis in T-ALL patients in the absence of NOTCH1 mutations or in the group of patients with co-presence of PTEN mutation and deletions. These results indicate that PTEN genomic aberrations and the biologically consequential PTEN inactivation contribute to adverse therapy response in T-ALL patients; PTEN status as a biomarker may contribute to the development of new molecularly-defined stratification algorithms.

Keywords: PTEN; T cel leukaemia; leukaemia; paediatric T-ALL.

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