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.
- Resource Type
- Article
- Authors
- Paganin, Maddalena; Grillo, Maria Francesca; Silvestri, Daniela; Scapinello, Greta; Buldini, Barbara; Cazzaniga, Giovanni; Biondi, Andrea; Valsecchi, Maria Grazia; Conter, Valentino; te Kronnie, Geertruij; Basso, Giuseppe
- Source
- British Journal of Haematology. Sep2018, Vol. 182 Issue 5, p705-711. 7p. 1 Chart, 3 Graphs.
- Subject
- *PTEN protein genetics
*LYMPHOBLASTIC leukemia in children
*DISEASE relapse
*TUMOR suppressor genes
*DELETION mutation
*T cells
*BIOMARKERS
*LEUKEMIA treatment
*CANCER
- Language
- ISSN
- 0007-1048
Summary: 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. [ABSTRACT FROM AUTHOR]