MDS patient registries - achievements and challenges.

Area of Science:

• Hematology
• Oncology
• Medical Informatics

Background:

• Patient registries have been crucial in understanding rare diseases since the 1980s.
• For myelodysplastic syndromes (MDS), registries demonstrated disease diversity, enabling subtype definition and prognostic scoring.
• The complexity of MDS diagnosis and classification has increased with revised criteria and broader diagnostic reach.

Purpose of the Study:

• To review three key MDS patient registries, detailing their rationale, scope, design, and contributions.
• To highlight how these registries complement each other in advancing MDS knowledge.
• To discuss the challenges posed by new genetic-based diagnostic criteria to existing registry data.

Main Methods:

• Review of existing literature and data from three distinct myelodysplastic syndromes patient registries.
• Analysis of registry scope, design, and achievements in relation to evolving MDS classification.
• Examination of the impact of recent WHO, IPC, and IPSS-M revisions on registry data utilization.

Main Results:

• Registry data has been instrumental in defining MDS subtypes and developing prognostic scores for therapy.
• Three specific MDS registries are presented, showcasing their complementary roles in research and clinical trial validation.
• Recent advancements, particularly multivariate genetic profiling for IPSS-M, present challenges for integrating historical registry data.

Conclusions:

• MDS patient registries remain vital for advancing knowledge and validating clinical trial outcomes.
• The integration of detailed genetic information into MDS diagnosis necessitates adaptation of registry methodologies.
• Future registry efforts must address the challenge of incorporating comprehensive genetic data for accurate patient stratification.