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

TY - JOUR

T1 - Utility of peripheral blood for cytogenetic and mutation analysis in myelodysplastic syndrome

AU - Mohamedali, Azim M

AU - Alkhatabi, Heba

AU - Kulasekararaj, Austin

AU - Shinde, Sneha

AU - Mian, Syed

AU - Malik, Farooq

AU - Smith, Alexander E

AU - Gaken, Joop

AU - Mufti, Ghulam J

PY - 2013

Y1 - 2013

N2 - 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.

AB - 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.

KW - ACUTE MYELOID-LEUKEMIA

KW - BONE-MARROW

KW - MDS

KW - HETEROZYGOSITY

KW - MALIGNANCIES

KW - FISH

U2 - 10.1182/blood-2012-12-471847

DO - 10.1182/blood-2012-12-471847

M3 - Article

C2 - 23760614

SN - 0006-4971

VL - 122

SP - 567

EP - 570

JO - Blood

JF - Blood

IS - 4

T2 - 54th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH)

Y2 - 8 December 2012 through 11 December 2012

ER -