VHIO’s Myeloid Malignancies Research Group is dedicated to advancing the biological understanding and clinical management of myeloid malignancies, including myelodysplastic neoplasms (MDS), acute myeloid leukemia (AML), myeloproliferative neoplasms (MPN) and germline predisposition syndromes.
We focus on improving disease characterization, refining risk stratification, and developing biologically informed therapeutic strategies that ultimately translate into improved patient outcomes. We also aim to integrate allogeneic hematopoietic stem cell transplantation both as a therapeutic modality and as a biological platform to study immune-mediated control of malignant clones.
Precision medicine is a guiding principle of our work. We integrate longitudinal
clinical data with comprehensive molecular profiling and high-resolution immune characterization to define the determinants of clonal emergence and evolution, disease progression, and therapeutic resistance.
By identifying molecular drivers, clonal hierarchies and immune dysfunction patterns in individual patients, we aim to establish robust clinicobiological correlations and actionable biomarkers that inform personalized therapeutic decisions and optimize risk-adapted treatment strategies.
The associated clinical unit diagnoses approximately 40 new MDS cases, 50 AML cases, and 25 MPN cases annually, providing a substantial and continuous source of clinically well-characterized patients for translational research. Since the early 2000s, we have maintained a consolidated institutional registry including more than 1,000 patients with MDS, systematically reported to the Spanish MDS Registry (GESMD). In parallel, AML and MPN cases are prospectively captured within the national collaborative registries CETLAM and GEMFIN, respectively, ensuring standardized clinical annotation and longitudinal follow-up.
Our group also established the first dedicated clinical program in Spain focused on patients with germline predisposition to myeloid neoplasms and clonal hematopoiesis, integrating clinical care with genetic counseling and research. Currently, 20 patients with confirmed germline predisposition syndromes are registered within the CATBAL collaborative network.
Comprehensive molecular characterization is available for more than 400 patients through routine cytogenetic and next-generation sequencing analyses. In addition, a clinically and biologically annotated biobank including approximately 250 consented cases provides a robust infrastructure for translational studies, biomarker discovery, and integrative molecular analyses.
This high volume of comprehensively annotated cases enables the generation of biologically grounded hypotheses and provides a unique bridge between real-world clinical complexity and mechanistic investigation. We work within a multidisciplinary framework that connects clinical hematologists, molecular geneticists, immunologists and translational scientists, ensuring a bidirectional flow between bedside observation and experimental modeling.
Through sustained participation in national and international collaborative networks and multicenter clinical trials, we contribute to the integration of innovative therapeutic approaches into the management of myeloid neoplasms.
By linking cohort-driven discovery with mechanistic insight and clinical implementation, the group aims to serve as a reference translational hub in myeloid malignancies, advancing precision medicine strategies rooted in biological understanding and clinical impact.
The Adult Telomere Biology Disorders Research at VHIO is a multidisciplinary initiative focused on advancing the diagnosis, clinical care, and research of telomere-driven diseases in adults. Embedded within the MYMAR unit, it brings together expertise in hematology, genetics, pulmonology, and hepatology to deliver integrated, patient-centered care for individuals with inherited predisposition to bone marrow failure and hematologic malignancies. The research combines state-of-the-art molecular diagnostics with translational research to improve disease understanding and inform clinical decision-making. The team includes hematologist Julia Montoro genetic counselor Sara Torres-Esquius, molecular biologist Andrés Jerez, hepatologist Juan Bañares, pulmonologist Íñigo Ojanguren, and research support led by Pamela Acha.
- Identify novel biological pathways in myeloid neoplasms to uncover actionable therapeutic
- Define new germline predisposition syndromes and characterize their molecular and mechanistic basis using next-generation
- Refine prognostic models by integrating molecular, immunological and clinical variables to improve risk-adapted
- Characterize immune dysregulation and bone marrow microenvironment remodeling across the spectrum from clonal hematopoiesis to acute myeloid
- Clarify the clinical impact of clonal hematopoiesis in hematologic malignancies and across other medical
- Establish allogeneic transplantation as a transversal therapeutic platform, both as a curative strategy and as a model of immune-mediated disease
