The diagnosis of MDS is confirmed by performing a bone marrow aspiration and biopsy. In particular, the bone marrow aspirate produces both detailed evaluation of cellular morphology and evaluation of blast percentage, whereas the bone marrow biopsy produces determination of bone marrow cellularity and architecture.
Flow cytometric studies, FISH, and genomic sequencing techniques may also be of clinical value in diagnosing MDS. The vast majority of patients with MDS have at least one somatic mutation, making genomic sequencing a complimentary diagnostic approach.
FISH can also be helpful in supporting a diagnosis of MDS. As reported in a 2021 update on MDS, because of the significant heterogeneity of cytogenetic alterations in MDS, there is no evidence that a panel of FISH gene-specific probes could replace routine cytogenetic analysis of 20 metaphase cells. Therefore, FISH may offer more clinical value in specific situations than in routine workup.
Learn more about the workup in patients with possible MDS.
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Cite this: Emmanuel C. Besa. Fast Five Quiz: Myelodysplastic Syndrome Presentation and Diagnosis - Medscape - May 12, 2021.