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تسجيل

Conventional and molecular cytogenomic basis of hematologic malignancies: Next-Generation Karyotyping

المؤلف:  Hoffman, R., Benz, E. J., Silberstein, L. E., Heslop, H., Weitz, J., & Salama, M. E.

المصدر:  Hematology : Basic Principles and Practice

الجزء والصفحة:  8th E , P819-820

2026-08-26

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 In early 2021 three studies used novel next-generation karyotyping which employed WGS as a potential replacement for conventional cytogenetics. These initial studies focused on patients with AML and myelodysplastic syndrome (MDS) and the genetic profiles and sequencing approaches were tested against the backbone of orthogonal results obtained at the same time using cytogenetics, FISH, and polymerase chain reaction (PCR) and/or NGS for detection of acquired somatic mutation. In a study reported by the Washington University group, in 235 patients who had undergone successful cytogenetic analysis, WGS provided rapid and accurate genomic profiling in patients with AML or MDS after modifications of sample preparation, sequencing, and analysis to detect mutations to be used for risk stratification using existing European Leukemia Network (ELN) guidelines.1 The WGS detected all 40 recurrent translocations and 91 copy-number alterations that had been identified by cytogenetic analysis. In addition, next-generation karyotyping identified new previously unrecognized genomic events in 17% of patients. In 117 consecutive patients analyzed prospectively WGS provided results within a median of 5 days and additional genetic information was identified in almost 25%, which changed the ELN and Revised International Prognostic Scoring System (IPSS-R) genetic prognostic risk categories in 16% of patients. Standard AML risk groups, as defined by sequencing results instead of cytogenetic analysis, correlated with clinical outcomes. WGS was also used to stratify patients who had inconclusive results by cytogenetic analysis into risk groups in which clinical outcomes were measurably different.1 These initial data are highly promising because they provided a greater diagnostic yield than conventional cytogenetic analysis and allowed for more efficient risk stratification on the basis of standard risk categories. Moreover, the speed by which the clinically relevant genomic profiles were obtained allowed reports to be generated in as little as 3 days.