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

• Published in: Leukemia research Vol. 35; no. 11; pp. 1477 - 1483
• Main Authors: Donahue, Amber C., Abdool, Adam K., Gaur, Renu, Wohlgemuth, Jay G., Yeh, Chen-Hsiung
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.11.2011
• Subjects: Acute myeloid leukemia (AML); Bone Marrow - pathology; Case-Control Studies; Chromosome Aberrations; FISH; Gene Dosage; Hematology, Oncology and Palliative Medicine; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Leukemia, Myeloid, Acute - blood; Leukemia, Myeloid, Acute - genetics; MLPA; Molecular Probe Techniques; Myelodysplastic syndrome (MDS); Myelodysplastic Syndromes - blood; Myelodysplastic Syndromes - genetics; Nucleic Acid Amplification Techniques; Sensitivity and Specificity; AML; FISH; Myelodysplastic syndrome (MDS); MLPA; MDS; Acute myeloid leukemia (AML); fluorescent in situ hybridization; acute myeloid leukemia; myelodysplastic syndrome; multiplex ligation-dependent probe amplification
• ISSN: 0145-2126; 1873-5835; 1873-5835
• DOI: 10.1016/j.leukres.2011.06.019

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.