title: Multiplex ligation-dependent probe amplification for detection of chromosomal abnormalities in myelodysplastic syndrome and acute myeloid leukemia.
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.
authors.affiliation: Department of Hematopathology, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
authors.forename: Amber C
authors.initials: AC
authors.lastname: Donahue
authors.forename: Adam K
authors.initials: AK
authors.lastname: Abdool
authors.forename: Renu
authors.initials: R
authors.lastname: Gaur
authors.forename: Jay G
authors.initials: JG
authors.lastname: Wohlgemuth
authors.forename: Chen-Hsiung
authors.initials: CH
authors.lastname: Yeh
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D018628:Gene Dosage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000097:blood / Q000235:genetics*; D015336:Molecular Probe Techniques; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D012680:Sensitivity and Specificity