Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients

Abstract Chromosomal abnormalities play an important role in classification and prognostication of myelodysplastic syndrome (MDS) patients. However, more than 50% low-risk MDS patients harbor a normal karyotype. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as effective robust method for the detection cytogenetic aberrations To characterize subset with karyotype or failed chromosome banding analysis, we analyzed 144 patient samples undetectable through regular which were subjected to parallel comparison via fluorescence situ hybridization (FISH) MLPA. MLPA identifies copy number changes 16.7% patients, observed significant difference overall survival (OS) (median OS: undefined vs 27 months, p=0.0071) proved by versus aberrant cohort determined Interestingly, indicated inferior outcome. Collectively, analysis can be further clarified MLPA, providing prognostic information that benefit individualized therapy.