50. Whole genome optical mapping (WGOM) characterization of a complex case of myelodysplastic syndrome (MDS)

      MDS are a heterogeneous group of hematopoietic neoplasms characterized by abnormal differentiation, dysplasia and cytopenias. Karyotype/FISH and microarrays are required to obtain a comprehensive molecular profile for the prognostication of patients with MDS. Herein, we present a case of MDS analyzed on the Bionano Saphry platform, demonstrating the ability of WGOM technology to better characterize and delineate structural variants (SVs) originally identified by conventional techniques. A 62 year old white male, diagnosed with MDS with excess blasts-2, and <1-month survival, demonstrated complex cytogenetic profile (43∼45,XY,-5,-7,del(13)(q14),-16,del(20)(q12),+r,+2mar, 1dmin[cp20]). WGOM, in addition to identifying the previously characterized SVs, demonstrated a higher resolution to define SVs w.r.t size and location. WGOM was concordant in identifying -7, del(13)(q14) compared to orthogonal methods. Further, Kayotype/FISH identified -5/-5q respectively, whereas WGOM identified -5q (chr5:62,985,966-167,796,535). Kayotype/FISH identified del(20)(q12)/-20, respectively, with WGOM identifying loss in one segment each on p (chr20:12840296-19002309) and q (chr20:36665925-62053866) arm. Kayotype/FISH identified -16, with WGOM identifying loss in 3 segment on p arm and 2 segments on q arm. The ring chromosome (+r) observed by karyotyping was identified to be chr16 by WGOM. The +2mar observed in karyotyping were identified on chr16 and chr20 by WGOM. In addition, several novel findings of clinical significance were detected, which are being validated. This highlights the clinical utility of WGOM in genomic characterization of SVs that are difficult to characterize and resolve by conventional techniques.
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