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. 2024 May 3;14(1):78.
doi: 10.1038/s41408-024-01059-x.

A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping

Affiliations

A comprehensive approach to evaluate genetic abnormalities in multiple myeloma using optical genome mapping

Ying S Zou et al. Blood Cancer J. .
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Potential genetic testing workflow to classify PCN genetic subtypes in a clinical setting.
OGM and NGS on CD138+ plasma cells are preferred, although alternative approaches include OGM and NGS on original specimens with a higher plasma cell burden. A Circos plot of case #24 showing chromoanagenesis (red lines in the center) and hyperdiploidy (gain of chromosomes 3, 4, 11, 15, and 19, green circles). B Breakpoints of case #43 showing an IGH::FGFR3/NDS2 fusion. C Whole-genome view of case #11 shows hypodiploidy with losses of chromosomes 4, 6, 13, 15, 16, X, del(17p), and partial del(1p). Common pathogenic mutations in this cohort are listed for each case.

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