49. Whole genome optical mapping: A high-resolution technology for cytogenetic analysis of hematological malignancies (HM)

      HM are often characterized by complex chromosomal abnormalities. Identification of these abnormalities is key to their classification, prognostication, and management. Karyotyping/FISH are usually employed to characterize these abnormalities, but are limited by the need to procure viable cells for culture, are manually intensive, biased towards targeted loci, and cannot determine the copy number of long repeats. The Bionano WGOM technology, which images ultra-long DNA demonstrates the potential to replace these conventional techniques for detecting structural variations (SVs). Here, we present a WGOM data on ten HM (MDS, AML, CML, and ET), compared to karyotyping/FISH. WGOM, in addition to identifying previously characterized complex cytogenetic profiles, demonstrated a higher resolution to accurately define SVs, marker- and ring-chromosomes. In a case of MDS with complex cytogenetics profile, where karyotyping identified del(21)(q21q22), WGOM accurately defined a >100 kb deletion with a segment probably translocating from chr21q21.2 to chr20 (chr20:20828244-chr21:23352469). Further, add(21)(p13) observed by karyotyping, was identified as duplication at chr(21)(p13) (chr21:64220-310447) by WGOM. The +mar1,+mar1 × 2, observed with karyotyping were identified to be chr21, chr20. In another case of MDS, a ring chromosome (+r) observed by karyotyping was identified to be chr16 by WGOM. Here we describe a powerful technology for investigating HM, which can accurately detect SVs including large rearrangements and fusions, to copy number alterations. We anticipate that this approach of obtaining high-resolution genomic data at reduced cost will facilitate in more precise diagnosis and prognostication of malignancies which was not previously possible.
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