Utility of peripheral blood for cytogenetic and mutation analysis in myelodysplastic syndrome

摘要

Recent studies have shown that more than 80% of bone marrow samples from patients with myelodysplastic syndrome (MDS) harbour somatic mutations and/or genomic aberrations, which are of diagnostic and prognostic importance. We have investigated the potential use of peripheral blood and serum to identify and monitor bone marrow derived genetic markers using high-resolution single nucleotide polymorphism array karyotyping (SNP-A) and parallel sequencing of 22 genes frequently mutated in MDS. This pilot study, showed a 100% SNP-A karyotype concordance and 97% mutation concordance between the bone marrow and peripheral blood. In contrast mutation analysis by Sanger sequencing of peripheral blood and serum derived DNA showed only 65% and 42% concordance, respectively to bone marrow. Our results show the potential utility of peripheral blood as a surrogate for bone marrow for MDS patients avoiding the need for repeated bone marrow aspirates particularly in elderly patients and those with fibrotic or hypocellular marrows.