Myelodysplastic Syndromes (MDS) are heterogeneous clonal diseases characterized by difficult diagnosis, complex prognostic stratification and unsatisfactory treatment. Based on that, UMBRELLA SUMMA aims to provide better clinical management and personalized medicine to MDS patients in Spain through improving diagnosis (1), prognosis (2 and 3), and treatment (2), and facilitating future investigations (4) of the disease.
More concretely, we propose: 1. The application of new technologies such as Optical Genome Mapping (OGM) in the diagnosis of those MDS cases whose cytogenetic alterations cannot be identify by other methods, as well as the implementation of this technology using peripheral blood avoiding more invasive methods for patients. 2. To provide all Spanish Group of MDS (GESMD) members who require it with the newly prognostic stratification of their patients (IPSS-M) by making Next Generation Sequencing (NGS) accessible for all of them. 3. Validate and improve a new prognostic system (AIPSS-MDS) previously developed within the GESMD, thanks to artificial intelligence, one of the tools with the most projection in the field of medicine currently. 4. To build and register ISCIII collections of cells, genetic material and/or plasma from all prospective MDS patients.
On the other hand, the dynamics of coexisting mutations in a specific context of chromosomal abnormalities could be defining the clinical fate of each patient. Based on that, the IBSAL team recently proposed three models of MDS evolution based on NGS data from three different cytogenetic subgroups: normal karyotype, trisomy 8 and 5q deletion. The IBSAL proposal aims to deepen into the pathophysiological mechanisms of MDS evolution in these three models through in vitro and in vivo functional studies and single-cell multiomics approaches.
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
Patients under 18 years old
Patients who do not sign the informed consent
Patients with Myelodysplastic Syndrome at diagnosis
Other
Prospective
Not listed
Structural variants and complex rearrangements in MDS
Optical Genome Mapping will be used to determine the presence of structural variant and complex rearrangements not detected by other conventional techniques
Mutations in MDS
Next Generation Sequencing will be use to define the IPSS-M (the International Molecular Prognostic Scoring System) in patients with MDS
Overall survival and leukemia-free survival in patients with MDS
The AIPSS-MDS (Artificial Intelligence Prognostic Scoring System for MDS) model will be validated to provide a personalized risk estimate for each individual patient
ISCIII collections of viable samples
To build and register ISCIII collections of viable samples (PB and BM cells), genetic material and/or plasma from all prospective MDS patients
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Instituto de Investigación Biomédica de Salamanca
Lead sponsor
Carlos III Health Institute
Collaborator
