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
| Autor: | Giuseppe Basso, Barbara Buldini, Maria Grazia Valsecchi, Valentino Conter, Maria Francesca Grillo, Greta Scapinello, Maddalena Paganin, Andrea Biondi, Daniela Silvestri, Giovanni Cazzaniga, Geertruij te Kronnie |
|---|---|
| Přispěvatelé: | Paganin, M, Grillo, M, Silvestri, D, Scapinello, G, Buldini, B, Cazzaniga, G, Biondi, A, Valsecchi, M, Conter, V, Te Kronnie, G, Basso, G |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Oncology Male medicine.medical_specialty PTEN paediatric T-ALL Adolescent medicine.disease_cause Precursor T-Cell Lymphoblastic Leukemia-Lymphoma law.invention 03 medical and health sciences 0302 clinical medicine law Recurrence Internal medicine Antineoplastic Combined Chemotherapy Protocols medicine Asparaginase Humans Child Gene Mutation Hematology leukaemia T cel leukaemia biology business.industry T-cell acute lymphoblastic leukaemia Daunorubicin PTEN Phosphohydrolase Prognosis 030104 developmental biology Increased risk Vincristine 030220 oncology & carcinogenesis Child Preschool biology.protein Biomarker (medicine) Suppressor Prednisone Female business Gene Deletion |
| Popis: | 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-Frankfurt-Munster (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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|