High Throughput Molecular Characterization of Normal Karyotype Acute Myeloid Leukemia in the Context of the Prospective Trial 02/06 of the Northern Italy Leukemia Group (NILG)
| Autor: | Renato Bassan, Chiara Pavoni, Pamela Zanghì, Elisabetta Todisco, Nicola Stefano Fracchiolla, Anna Michelato, Leonardo Campiotti, Federico Lussana, Roberta Cavagna, Annamaria Scattolin, Giacomo Gianfaldoni, Chiara Caprioli, Erika Borlenghi, Fabio Ciceri, Ernesta Audisio, Alessandro Rambaldi, Lorella De Paoli, Tamara Intermesoli, Elisabetta Terruzzi, Orietta Spinelli, Ksenija Buklijas, Lara Elidi, Silvia Salmoiraghi, Paola Stefanoni, Paolo Corradini, Daniele Mattei, Irene Cavattoni, Monica Tajana, Elena Oldani |
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| Přispěvatelé: | Salmoiraghi, S, Cavagna, R, Zanghì, P, Pavoni, C, Michelato, A, Buklijas, K, Elidi, L, Intermesoli, T, Lussana, F, Oldani, E, Caprioli, C, Stefanoni, P, Gianfaldoni, G, Audisio, E, Terruzzi, E, De Paoli, L, Borlenghi, E, Cavattoni, I, Mattei, D, Scattolin, A, Tajana, M, Ciceri, F, Todisco, E, Campiotti, L, Corradini, P, Fracchiolla, N, Bassan, R, Rambaldi, A, Spinelli, O, Salmoiraghi, S., Cavagna, R., Zanghi, P., Pavoni, C., Michelato, A., Buklijas, K., Elidi, L., Intermesoli, T., Lussana, F., Oldani, E., Caprioli, C., Stefanoni, P., Gianfaldoni, G., Audisio, E., Terruzzi, E., Paoli, L. D., Borlenghi, E., Cavattoni, I., Mattei, D., Scattolin, A., Tajana, M., Ciceri, F., Todisco, E., Campiotti, L., Corradini, P., Fracchiolla, N., Bassan, R., Rambaldi, A., Spinelli, O. |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Oncology
Acute Myeloid Leukemia Cancer Research medicine.medical_specialty NPM1 Context (language use) Gene mutation Molecular marker lcsh:RC254-282 Article 03 medical and health sciences 0302 clinical medicine Internal medicine hemic and lymphatic diseases Medicine Prospective cohort study molecular marker business.industry Induction chemotherapy medicine.disease lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Transplantation Leukemia 030220 oncology & carcinogenesis NGS embryonic structures business 030215 immunology Cohort study |
| Zdroj: | Cancers, Vol 12, Iss 2242, p 2242 (2020) Cancers Volume 12 Issue 8 |
| ISSN: | 2072-6694 |
| Popis: | By way of a Next-Generation Sequencing NGS high throughput approach, we defined the mutational profile in a cohort of 221 normal karyotype acute myeloid leukemia (NK-AML) enrolled into a prospective randomized clinical trial, designed to evaluate an intensified chemotherapy program for remission induction. NPM1, DNMT3A, and FLT3-ITD were the most frequently mutated genes while DNMT3A, FLT3, IDH1, PTPN11, and RAD21 mutations were more common in the NPM1 mutated patients (p < 0.05). IDH1 R132H mutation was strictly associated with NPM1 mutation and mutually exclusive with RUNX1 and ASXL1. In the whole cohort of NK-AML, no matter the induction chemotherapy used, by multivariate analysis, the achievement of complete remission was negatively affected by the SRSF2 mutation. Alterations of FLT3 (FLT3-ITD) and U2AF1 were associated with a worse overall and disease-free survival (p < 0.05). FLT3-ITD positive patients who proceeded to alloHSCT had a survival probability similar to FLT3-ITD negative patients and the transplant outcome was no different when comparing high and low-AR-FLT3-ITD subgroups in terms of both OS and DFS. In conclusion, a comprehensive molecular profile for NK-AML allows for the identification of genetic lesions associated to different clinical outcomes and the selection of the most appropriate and effective treatment strategies, including stem cell transplantation and targeted therapies. |
| Databáze: | OpenAIRE |
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