Unified platforM for a Better integRal Evaluation of MyeLodyspLastic Syndromes in SpAin-Strategy for Unraveling Personalized genoMic Medicine in Public heAlth System (UMBRELLA-SUMMA)

Myelodysplastic syndromes (MDS) are hematologic malignancies characterized by bone marrow dysplasia, cytopenias (anemia, infections, bleeding), and a high risk of progression to acute myeloid leukemia (AML). Diagnosis and prognostic stratification are challenging, and treatment outcomes remain suboptimal, especially in elderly patients, who represent the majority of cases.

Beyond structural cytogenetic abnormalities found in 40-70% of patients, over 90% of MDS cases harbor somatic mutations impacting cellular function. Next-generation sequencing (NGS) has improved diagnosis, prognostication, and therapeutic decision-making.

The Spanish Group of MDS (GESMD) brings together over 400 professionals across 100+ centers and maintains RESMD, the world's largest MDS patient registry. In 2020, GESMD launched UMBRELLA to provide NGS access to participating centers, addressing a key clinical gap.

Building on UMBRELLA's success, the UMBRELLA-SUMMA project will:

• Implement Optical Genome Mapping (OGM) to enhance detection of chromosomal alterations, especially in cases where standard cytogenetics fail. We will explore the use of peripheral blood samples to minimize invasiveness.
• Expand access to NGS to GESMD members lacking this technology, supporting prognostic classification based on the IPSS-M, an updated molecularly integrated scoring system.
• Apply Artificial Intelligence (AI) to validate and improve a new AI-driven prognostic model for MDS developed within GESMD.

Additionally, the project will create biobanks of biological samples from GESMD patients, linked to clinical and epidemiological data within RESMD, ensuring optimal and regulated access for future research.

Given MDS heterogeneity, personalized medicine is essential. UMBRELLA-SUMMA will address this through the study of different patient subgroups (low-risk, high-risk, AML-transformed MDS) with a multidisciplinary team comprising clinicians, biologists, biotechnologists, and bioinformaticians.

Results will be disseminated among healthcare professionals, patients and their families via GESMD's patient resources, institutional websites, social media, and public engagement activities.

Inclusion criteria

• Patients over 18 years old
• Patients with a confirmed diagnosis of MDS by cytogenetics and/or morphological analysis
• Patients with complete clinical data
• Patients who sign the informed consent

Exclusion criteria

• Patients under 18 years old
• Patients who do not sign the informed consent