02.01. Área de Salud I Murcia Oeste

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

2026-07-16T00:00:00Z

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

2026-07-13T00:00:00Z

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.

Automatic Evaluation of Small Bowel Cleanliness in Capsule Endoscopy: A Comparative Study of Four Preparations using Artificial Intelligence

2026-07-03T00:00:00Z

Automatic Evaluation of Small Bowel Cleanliness in Capsule Endoscopy: A Comparative Study of Four Preparations using Artificial Intelligence Nevarez, Andrea; Noorda, Reinier; Alonso-Lazaro, Noelia; Carretero, Cristina; Prieto-de-Frias, César; González-Suárez, Begoña; Giordano, Antonio; Jiménez-García, Victoria-Alejandra; Lorenzo-González, Laura; Caunedo-Álvarez, Ángel; Valle-Muñoz, Julio; García-Vela, Almudena; Lujan-Sanchis, Marisol; Ruiz-Sánchez, Lucía; Sánchez-Ceballos, Francisco; Mendoza-Hernández, Juan-Luis; García-Lledo, Javier; Nogales-Rincon, Óscar; Egea-Valenzuela, Juan; Mesa-López, María-José; Merino-Zubizarreta, Ainara; Estevez-Boullosa, Pamela; Martínez-Turnes, Alfonso; Bustamante-Balen, Marco; Naranjo, Valery; Pons-Beltrán, Vicente Background Diagnostic yield (DY) of small bowel capsule endoscopy (SBCE) is limited by the presence of intestinal content. An objective assessment of the cleanliness grade of the small bowel (SB) is currently lacking. We developed and validated an artificial intelligence (AI) tool to assess SB cleanliness in a multicenter observational study comparing four types of bowel preparations. Objectives Identify the best preparation for SBCE applying a system based on convolutional neural networks that assess the SB degree of cleanliness. Design We included 372 SBCE consecutive procedures with four different bowel preparations. Group A ( n = 93): liquid diet (LD), Group B ( n = 92): macrogol 3350 + ascorbic acid 1000 mL, Group C ( n = 94): sodium picosulfate, and Group D ( n = 93): macrogol 500 mL. The degree of cleanliness of the SB was evaluated with the automatic tool (0-100%). Gastric and SB transit times, DY, and degree of satisfaction with the preparation were also evaluated. Results Mean age of included patients was 58.14 years (confidence interval 95% 18-93 years); 55.9% were women. There were no significant differences in the degree of cleanliness of the SB evaluated with AI between groups (Mean Group A: 51.28%; B: 54.79%; C: 52.44%; D: 55.34%; p=0.415), nor in transit times or DY. LD was the best-tolerated preparation. Multivariable analysis identified age and diabetes as independent predictors of lower cleanliness. Conclusion We demonstrated using an AI-based tool, that LD provides adequate preparation for SBCE, questioning the routine administration of laxatives and supporting a patient-centered approach.

First national study on the ethical dimension of neonatal nursing

2026-07-08T00:00:00Z

First national study on the ethical dimension of neonatal nursing Jiménez-Flores, Javier; Casado-Rodríguez, Aroa; Fernández-Tunas, María-del-Carmen; Laiz-Rodríguez, Marta-Eva; Salcedo-Madridejos, Ángel; Sánchez-Suárez, Patricia; Lambea-Rueda, Leticia; Torres-López, Lorena; Molina-Ruiz, Cristina; Jiménez-Herrera, María-F; Bazo-Hernández, Leticia BackgroundNeonatal nursing care requires ethical competence alongside technical expertise. Despite progress in Spain, disparities persist in ethical training and professional autonomy in neonatal units.ObjectiveTo examine the ethical dimension of neonatal nursing in Spain, including training, institutional resources, ethical climate, and experiences of ethical conflict and moral distress.Research designA descriptive, observational, and cross-sectional study was conducted, combining quantitative and qualitative analyses to examine the ethical-professional reality of neonatal nurses nationwide. The study was based on an ad hoc questionnaire specifically designed for this research and validated through expert review and content validation procedures.Participants and research contextA total of 307 neonatal nurses in Spain completed an online questionnaire developed by the researcher with 24 structured and semi-structured items. The sample size was determined based on voluntary nationwide participation during the 6-month data collection period, aiming to maximize territorial representation and professional heterogeneity among neonatal nursing staff. The instrument explored sociodemographic, educational, professional, and institutional variables, together with experiences of moral distress and ethical conflict.Ethical considerationThe study followed the Declaration of Helsinki and Spanish and European data protection regulations. The questionnaire was fully anonymous, and no personal data or IP addresses were collected. Informed consent was obtained from all participants. As the study involved anonymous voluntary participation without clinical intervention or sensitive data processing, Ethics Committee approval was not required under regulations.FindingsMost participants had non-formal bioethics training, whereas formal postgraduate education was rare. Moral distress was reported by 85% of respondents, mainly related to treatment limitation, therapeutic obstinacy, and end-of-life care. Bioethics training and professional experience predicted moral distress, while Clinical Ethics Committees showed no predictive value. These findings highlight the need to strengthen ethics education and promote participatory institutional environments to support ethical decision-making and reduce moral distress in neonatal nursing practice.ConclusionThe ethical dimension of neonatal nursing in Spain is shaped by education, experience, and institutional climate. Training was associated with moral distress, but its impact depends on organizational support, underscoring the need for participatory environments to reduce suffering and strengthen ethical care.