2026-04-13T00:59:37Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/126912025-10-24T10:17:17Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Caballero Berrocal, Juan Carlos author Lopez Pavia, Maria author Such, Esperanza author Bernal, Teresa author Ramos Ortega, Fernando author Merchan, Brayan author Davila Valls, Julio author 2025-03-05T13:45:00Z 2025-03-05T13:45:00Z 2024 Erythropoiesis stimulating agents; Myelodysplastic syndromes; Somatic mutations Agents estimulants de l'eritropoesi; Síndromes mielodisplàstiques; Mutacions somàtiques Agentes estimulantes de la eritropoyesis; Síndromes mielodisplásicos; Mutaciones somáticas Background: Erythropoiesis stimulating agents (ESAs) are the first-line therapy in patients with lower-risk myelodysplastic syndromes (LR-MDS). Some predictive factors for ESAs response have been identified. Type and number of somatic mutations have been associated with prognosis and response to therapies in MDS patients. Objectives: The objective was to evaluate the outcomes after ESAs in patients with LR-MDS and to address the potential predictive value of somatic mutations in ESAs-treated patients. Design: Multi-center retrospective study of a cohort of 722 patients with LR-MDS included in the SPRESAS (Spanish Registry of Erythropoietic Stimulating Agents Study) study. Retrospective analysis of 65 patients with next generation sequencing (NGS) data from diagnosis. Methods: ESAs’ efficacy and safety were evaluated in patients receiving ESAs and best supportive care (BSC). To assess the potential prognostic value of somatic mutations in erythroid response (ER) rate and outcome, NGS was performed in responders and non-responders. Results: ER rate for ESAs-treated patients was 65%. Serum erythropoietin (EPO) level <200 U/l was the only variable significantly associated with a higher ER rate (odds ratio, 2.45; p = 0.036). Median overall survival (OS) in patients treated with ESAs was 6.7 versus 3.1 years in patients receiving BSC (p < 0.001). From 65 patients with NGS data, 57 (87.7%) have at least one mutation. We observed a trend to a higher frequency of ER among patients with a lower number of mutated genes (40.4% in <3 mutated genes versus 22.2% in ⩾3; p = 0.170). The presence of ⩾3 mutated genes was also significantly associated with worse OS (hazard ratio, 2.8; p = 0.015), even in responders. A higher cumulative incidence of acute myeloid leukemia progression at 5 years was also observed in patients with ⩾3 mutated genes versus <3 (33.3% and 10.7%, respectively; p < 0.001). Conclusion: This large study confirms the beneficial effect of ESAs and the adverse effect of somatic mutations in patients with LR-MDS. The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III, Ministerio de Sanidad: PI17/01741. Gerencia Regional de Salud de Castilla y León (Sacyl): GRS1349/A/16. http://hdl.handle.net/11351/12691 Avaluació de resultats (Assistència sanitària) Anomalies cromosòmiques Síndromes mielodisplàsiques - Tractament Síndromes mielodisplàsiques - Prognosi DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Bone Marrow Diseases::Myelodysplastic Syndromes Other subheadings::Other subheadings::Other subheadings::/drug therapy CHEMICALS AND DRUGS::Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Hematologic Agents::Hematinics Other subheadings::Other subheadings::/therapeutic use ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::enfermedades de la médula ósea::síndromes mielodisplásicos Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia COMPUESTOS QUÍMICOS Y DROGAS::acciones y usos químicos::acciones farmacológicas::usos terapéuticos::fármacos hematológicos::hematínicos Otros calificadores::Otros calificadores::/uso terapéutico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación Outcomes and effect of somatic mutations after erythropoiesis stimulating agents in patients with lower-risk myelodysplastic syndromes