High concordance of genomic and cytogenetic aberrations between peripheral blood and bone marrow in myelodysplastic syndrome (MDS)

Abstract

Bone marrow(BM) genetic abnormalities in myelodysplastic syndromes (MDS) have provided important biological and prognostic information, however frequent BM sampling in older patients has been associated with significant morbidity. Utilising single-nucleotide-polymorphism array (SNP-A) and targeted gene sequencing(TGS) of 24 frequently mutated genes in MDS, we assessed the concordance of genetic abnormalities in BM and peripheral blood(PB) sampled concurrently from 201 MDS patients. SNP-A karyotype in BM was abnormal in 108(54%) and normal in 93(46%) patients, with 95%(190/201) having an identical PB karyotype. The median copy-number(CN) for deletions was significantly lower in BM[CN:1.4(1–1.9)] than PB[CN:1.5(1–1.95), PP=0.14] with no significant difference in the number, types of mutations or WHO subtype. In all patients with discordant SNP (n=11) and mutation (n=6) profiles between BM and PB, shared abnormalities were always present irrespective of treatment status. Overall, 86% of patients had a clonal aberration with 95% having identical SNP-A karyotype and mutations in PB, thus enabling frequent assessment of response to treatment and disease evolution especially in patients with fibrotic or hypocellular marrows.