title: Utility of peripheral blood for cytogenetic and mutation analysis in myelodysplastic syndrome.
abstract: Recent studies have shown that more than 80% of bone marrow (BM) samples from patients with myelodysplastic syndrome (MDS) harbor somatic mutations and/or genomic aberrations, which are of diagnostic and prognostic importance. We investigated the potential use of peripheral blood (PB) and serum to identify and monitor BM-derived genetic markers using high-resolution single nucleotide polymorphism array (SNP-A) karyotyping and parallel sequencing of 22 genes frequently mutated in MDS. This pilot study showed a 100% SNP-A karyotype concordance and a 97% mutation concordance between the BM and PB. In contrast, mutation analysis using Sanger sequencing of PB and serum-derived DNA showed only 65% and 42% concordance to BM, respectively. Our results show the potential utility of PB as a surrogate for BM for MDS patients, thus avoiding the need for repeated BM aspirates particularly in elderly patients and those with fibrotic or hypocellular marrows.
authors.affiliation: Department of Haematological Medicine, King's College London, Rayne Institute, London, United Kingdom.
authors.forename: Azim M
authors.initials: AM
authors.lastname: Mohamedali
authors.forename: Heba
authors.initials: H
authors.lastname: Alkhatabi
authors.forename: Austin
authors.initials: A
authors.lastname: Kulasekararaj
authors.forename: Sneha
authors.initials: S
authors.lastname: Shinde
authors.forename: Syed
authors.initials: S
authors.lastname: Mian
authors.forename: Farooq
authors.initials: F
authors.lastname: Malik
authors.forename: Alexander E
authors.initials: AE
authors.lastname: Smith
authors.forename: Joop
authors.initials: J
authors.lastname: Gäken
authors.forename: Ghulam J
authors.initials: GJ
authors.lastname: Mufti
mesh_terms: D000368:Aged; D001853:Bone Marrow / Q000473:pathology; D001856:Bone Marrow Examination / Q000379:methods; D020732:Cytogenetic Analysis / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D006403:Hematologic Tests / Q000706:statistics & numerical data; D006801:Humans; D059785:Karyotype; D007621:Karyotyping / Q000379:methods; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010865:Pilot Projects; D011237:Predictive Value of Tests