Incremental diagnostic yield and risk reclassification with optical genome mapping compared with conventional cytogenetics in myeloid neoplasms: a systematic review
DOI:
https://doi.org/10.65759/gjd79t48Keywords:
Optical genome mapping, myeloid neoplasms, cytogenetics, diagnostic yield, risk reclassificationAbstract
Background: Optical genome mapping provides genome-wide detection of structural abnormalities in myeloid neoplasms. Its incremental clinical value depends on whether additional findings change diagnosis or established prognostic categories. This review evaluated diagnostic yield and risk reclassification relative to conventional cytogenetics. Methods: Eleven original comparative publications were examined through structured retrieval of indexed records and publisher sources. Disease-specific populations, comparator workflows, additional abnormalities, and classification outcomes were extracted. Heterogeneity in populations, outome definitions, and prognostic models supported narrative synthesis without quantitative pooling. Results: Additional findings were frequent, in consecutive myelodysplastic neoplasms, clinically significant cryptic findings affected 34% of 101 patients, whereas reported prognostic reassignment included both category changes and newly assessable cases. A multicenter acute myeloid leukemia study identified additional clinically relevant findings in 13% of 100 patients. Another mixed cohort reported cytogenetic risk changes in 16%, with integrated prognostic changes in only three of 150 patients. In 252 high-grade myeloid neoplasms, six cryptic MECOM rearrangements were identified, with diagnostic or risk reclassification in five. Conclusions: Optical genome mapping adds clinically relevant structural information beyond conventional cytogenetics. The strongest evidence concerns cryptic rearrangements, complex abnormalities, and unsuccessful chromosome analysis. Incremental detection exceeds demonstrated risk reclassification, and evidence linking testing to improved patient outcomes remains limited. Standardized endpoints and prospective comparative studies are needed for clinical adoption.
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