Multiplex ligation-dependent probe amplification for detection of chromosomal abnormalities in myelodysplastic syndrome and acute myeloid leukemia

Leuk Res. 2011 Nov;35(11):1477-83. doi: 10.1016/j.leukres.2011.06.019. Epub 2011 Jul 20.

Abstract

Current strategies for detecting chromosome abnormalities in MDS/AML include FISH or traditional cytogenetics. MLPA detects abnormalities in multiple loci simultaneously, with higher resolution and throughput. Peripheral blood from 50 healthy subjects was used to establish probe-specific reference ranges, increasing MLPA sensitivity and specificity. MLPA was then performed on 110 FISH-tested blood or bone marrow samples from suspected leukemia patients. Our novel MLPA analysis system combined maximum stringency with sensitive detection of low-frequency abnormalities. Accuracy/specificity of MLPA were excellent compared to FISH. Our MLPA analysis/interpretation method provides a clinically robust, high-throughput, high-resolution option for detection of abnormalities associated with MDS/AML.

Publication types

  • Comparative Study
  • Randomized Controlled Trial

MeSH terms

  • Bone Marrow / pathology
  • Case-Control Studies
  • Chromosome Aberrations*
  • Gene Dosage
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / blood
  • Leukemia, Myeloid, Acute / genetics*
  • Molecular Probe Techniques*
  • Myelodysplastic Syndromes / blood
  • Myelodysplastic Syndromes / genetics*
  • Nucleic Acid Amplification Techniques*
  • Sensitivity and Specificity