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Br J Haematol. 2018 Sep;182(5):705-711. doi: 10.1111/bjh.15449. Epub 2018 Jun 25.

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.

Author information

1
Oncoematologia Pediatrica, Azienda Ospedaliera di Padova, Padova, Italy.
2
Department of Women's and Children's Health, Paediatric Hematology and Oncology, University of Padova, Padova, Italy.
3
Centre of Biostatistics for Clinical Epidemiology, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
4
Clinica Pediatrica, Fondazione MBBM, University of Milano-Bicocca, Monza, Italy.
5
Centro Ricerca M. Tettamanti, Department of Paediatrics, University of Milano Bicocca, Fondazione MBBM, Monza, Italy.

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

PMID:
29938780
DOI:
10.1111/bjh.15449
[Indexed for MEDLINE]

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