Details

Autor(en) / Beteiligte

• Cabezón, Marta
• Bargay, Joan
• Xicoy, Blanca
• García, Olga
• Borrás, Josep
• Tormo, Mar
• Marcé, Sílvia
• Pedro, Carme
• Valcárcel, David
• Jiménez, Maria-José
• Guàrdia, Ramón
• Palomo, Laura
• Brunet, Salut
• Vall-Llovera, Ferran
• Garcia, Antoni
• Feliu, Evarist
• Zamora, Lurdes

Titel

Impact of mutational studies on the diagnosis and the outcome of high-risk myelodysplastic syndromes and secondary acute myeloid leukemia patients treated with 5-azacytidine

Ist Teil von

• Oncotarget, 2018-04, Vol.9 (27), p.19342-19355

Ort / Verlag

United States: Impact Journals LLC

Erscheinungsjahr

2018

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Myelodysplastic syndromes (MDS) are stem cell disorders caused by various gene abnormalities. We performed targeted deep sequencing in 39 patients with high-risk MDS and secondary acute myeloid leukemia (sAML) at diagnosis and follow-up (response and/or relapse), with the aim to define their mutational status, to establish if specific mutations are biomarkers of response to 5-azacytidine (AZA) and/or may have impact on survival. Overall, 95% of patients harbored at least one mutation. and were the most frequently altered genes. Mutations in correlated with higher risk features and shorter overall survival (OS) and progression free survival (PFS) in univariate analysis. Patients with mutations were associated with better OS and PFS. Response rate was 55%; but we could not correlate the presence of and mutations with AZA response. Patients with sAML presented more variations than patients with high-risk MDS, and usually at relapse the number of mutations increased, supporting the idea that in advanced stages of the disease there is a greater genomic complexity. These results confirm that mutation analysis can add prognostic value to high-risk MDS and sAML patients, not only at diagnosis but also at follow-up.