Use of SNP-array-based karyotyping for cytogenetic prognostication in unclassified cases of myelodysplasia and associated overlap disorders

摘要: 7016 Background: Myeloproliferative disorders (MPD) and myelodysplastic syndromes (MDS) often have overlapping features resulting in unclassifiable cases (MDS-U MDS/MPD-U). Chromosomal abnormalities impact prognosis, but 50% of show normal karyotype by metaphase cytogenetics (MC). Single nucleotide polymorphism arrays (SNP-A) are novel karyotyping tools with superior resolution ability to detect copy neutral loss heterozygosity, a defect not detected MC. Methods: MDS-U (N = 17) MDS/MPD-U 61) patients were selected from an MDS database 720, median age 76, follow-up 42 mos). SNP-A was performed on 67 751 controls. An algorithm for identification somatic lesions designed: 1) Lesions MC required no further analysis; 2) Micro-duplications/ deletions number variants (CNV) excluded. CNV databases confirmed CD3 lymphocytes; 3) UPD <25 Mb unlikely Telom...