02.06. Área de Salud VI Vega Media

Vacunación frente a neumococo en la edad pediátrica

Thu, 03 Oct 2024 00:00:00 GMT

Vacunación frente a neumococo en la edad pediátrica Iofrío-de-Arce, Antonio Presentada en la X Reunión del Programa de Vacunaciones de la Región de Murcia, novena charla del programa. Murcia 03/10/2024

Co-mutation signatures are age-dependent and impact the prognosis in NPM1-mutated acute myeloid leukemia: a PETHEMA multicenter study.

Thu, 16 Jul 2026 00:00:00 GMT

Co-mutation signatures are age-dependent and impact the prognosis in NPM1-mutated acute myeloid leukemia: a PETHEMA multicenter study. Gil, José-Vicente; Sargas, Claudia; Ayala, Rosa; Gutiérrez, Norma-Carmen; Pérez-Simon, José-Antonio; Gómez-Casares, María-Teresa; Larrayoz, María-José; Prados-de-la-Torre, Esther; Cano-Ferri, Isabel; Navarro, Irene; Gil, Cristina; Bernal, Teresa; Rodríguez-Arboli, Eduardo; Pérez-Santaolalla, Esther; Colmenares, Rafael; Tormo, Mar; Bergua, Juan; Amigo, María-Luz; Rodríguez-Medina, Carlos; Serrano, Josefina; Oliva, Ana-Yurena; Alonso-Domínguez, Juan-Manuel; Noriega, Víctor; Algarra, Lorenzo; Olave, María-Teresa; García-Pérez, María-José; Couto, Carmen; Almela, Agata; García-Fortes, María; Madrigal, María-Dolores; Hermosin, María-Lourdes; Colorado, Mercedes; García-Boyero, Raimundo; Ibáñez, Francisco; Sole, María; Martínez-Chamorro, Carmen; Mateos, María-Del-Carmen; García-Garay, María-Del-Carmen; Solana-Altabella, Antonio; Martin-Herreros, Beatriz; Martínez-López, Joaquín; Chillón, María-Del-Carmen; Soria, Elena; Bilbao, Cristina; Calasanz, María-José; Sánchez-García, Joaquín; Barragán, Eva; Montesinos, Pau NPM1-mutated acute myeloid leukemia is genetically heterogeneous, and risk assessment remains focused exclusively on FLT3-ITD despite the potential role of other co-mutations. We retrospectively analyzed 1,360 adults from a multicenter cohort to map age-resolved co-mutation architecture and prognostic impact. Co-mutations were present in 97% of patients (median = 3 mutations) with DNMT3A (45%), FLT3-ITD (42%), TET2 (27%), and IDH2 (20%) predominating. RTK/RAS partners were enriched in younger adults, whereas myelodysplasia-related genes (MR-genes), epigenetic lesions and higher mutation burden accumulated in the elderly. Pairwise co-mutations mapped to distinct clinical phenotypes with NPM1+FLT3-ITD showing a hyperproliferative profile, and NPM1+SRSF2/TET2 associated to older patients with cytopenic disease. In the 688 patients receiving upfront intensive therapy, NPM1 type Non-ABD exhibited a tendency toward poorer OS compared with type A. In competing-risk models, SRSF2 and DNMT3A were associated with a higher cumulative incidence of relapse (CIR). Consistently, multivariable analyses showed that increasing age and SRSF2 independently conferred adverse risk across OS, RFS, and EFS; KRAS adversely impacted OS, whereas FLT3-OTHER was associated with improved OS; and DNMT3A with inferior RFS and EFS but not OS. These findings show that co-mutation signatures in NPM1-mutated AML are age-structured and clinically meaningful, refining risk beyond FLT3-ITD.

Mutational profile and cardiovascular risk factors impact prognosis in triple-negative essential thrombocythemia

Mon, 13 Jul 2026 00:00:00 GMT

Mutational profile and cardiovascular risk factors impact prognosis in triple-negative essential thrombocythemia Carreño-Tarragona, Gonzalo; Gil-Manso, Rodrigo; Hernández-Boluda, Juan-Carlos; Martínez-Ávila, José-Carlos; Bellosillo, Beatriz; Pérez-López, Raúl; Segura, Adrián; Ferrer-Marín, Francisca; Arellano-Rodrigo, Eduardo; Angona, Anna; García-Gutiérrez, Valentín; Noya, María-Soledad; Blanco, Ángela; Zamora, Lurdes; Navarro, Miguel; Senin, Alicia; Magro, Elena; Pastor-Galan, Irene; Mata-Vázquez, María-Isabel; Morales, María-Luz; Cuevas, Beatriz; Velez, Patricia; Mora, Elvira; Martínez-Bilbao, Cristina; Colmenares, Rafael; Alonso, Juan-Manuel; Pérez-Encinas, Manuel; Caballero-Navarro, Gonzalo; Cortes, Miguel-Ángel; Santaliestra, Marta; Raya, José-María; Blanco-Sánchez, Alberto; Hernández-Rivas, Jesus-María; Martínez-López, Joaquín; Ayala, Rosa; Álvarez-Larran, Alberto Triple-negative essential thrombocythemia (TN-ET) represents a diagnostic and therapeutic challenge. The aim of the present study was to identify prognostic factors useful for tailoring treatment. 241 TN-ET patients with myeloid panel sequencing and confirmatory bone marrow biopsy were selected. Pathogenic/likely pathogenic variants were identified in 19.5% of patients. Mutation carriers were older (median age 66 years vs. 53, p < 0.001) and had a higher frequency of prior thrombosis (19.6% vs. 6.5%, p = 0.013). Presence of pathogenic/likely pathogenic variants was associated with leukemic progression (HR 12.608; 95% CI: 2.616-60.775, p = 0.002) and lower overall survival (HR 3.008; 95% CI: 1.43-6.327, p = 0.004). ASXL1 (p = 0.004), CBL (p < 0.001), EZH2 (p < 0.001), and ZRSR2 (p < 0.001) mutations were associated with inferior leukemia-free survival. Age over 60 years, previous thrombosis, and cardiovascular risk factors were associated with higher thrombotic risk. Revised IPSET-thrombosis was useful for risk stratification (10-year probability of overall thrombosis: 30%, 15%, and 6% for high-, intermediate-, and very-low risk patients, respectively, p < 0.001). ARTS score refined arterial thrombosis stratification (10 years probability: 25% and 6% for high- and low-risk, respectively, p < 0.001). Progression to myelofibrosis was a rare event in this cohort (2.5%). These results highlight the biological and prognostic relevance of molecular profile in TN-ET.

The cult of the external validation set: undertraining is only half of the radiomics validation crisis

Thu, 09 Jul 2026 00:00:00 GMT

The cult of the external validation set: undertraining is only half of the radiomics validation crisis García-Hidalgo, Clemente