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Classification guidelines for myeloid malignancies have undergone more changes in the last three years than in the previous decade. The 2022 WHO and International Consensus Classification updates went beyond adjusting diagnostic thresholds, they fundamentally redefined what constitutes a complete genomic profile, expanding the alterations that need to be detected, the variant types that need to be investigated, and the findings that have direct relevance to treatment decisions and patient monitoring.
For many laboratories, keeping pace with these changes has required the adoption of broad-coverage NGS applications. At Unidade Funcional de Hematologia Molecular, Unidade Local de Saúde de Coimbra, one of Portugal's national reference centers for hemato-oncology, Dr. Margarida Coucelo has led that transition, investigating myeloid malignancies across the full disease spectrum, from chronic conditions such as myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) through to acute leukemias. That breadth of caseload, combined with the center's role as a referral hub receiving samples from institutions across the country, means that the quality and completeness of every genomic
report carry significant value for clinical teams.
In this webinar, Dr. Coucelo will share that experience through real cases, illustrating how a comprehensive DNA-based NGS approach can contribute to the identification of relevant variants and support discussions around treatment options and risk stratification. Cases will span a range of scenarios, from the detection of rare fusion genes and somatic variants to consolidating germline predisposition testing within a single workflow, to building a more complete picture to guide more robust clinical decisions.
This webinar offers an opportunity to explore how expanded NGS workflows are being applied in a high-volume reference setting, and what that experience may mean for laboratories navigating the evolving landscape of myeloid malignancy testing.
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