Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies.

Autor:	Shim Y; Brain Korea 21 PLUS Project for Medical Science, Yonsei University, Seoul, Korea.; MDxK (Molecular Diagnostics Korea), Inc., Gwacheon, Korea., Koo YK; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea., Shin S; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea., Lee ST; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.; Dxome Co., Ltd., Seongnam, Korea., Lee KA; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea., Choi JR; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.; Dxome Co., Ltd., Seongnam, Korea.
Jazyk:	angličtina
Zdroj:	Annals of laboratory medicine [Ann Lab Med] 2024 Jul 01; Vol. 44 (4), pp. 324-334. Date of Electronic Publication: 2024 Mar 04.
DOI:	10.3343/alm.2023.0339
Abstrakt:	Background: Structural variants (SVs) are currently analyzed using a combination of conventional methods; however, this approach has limitations. Optical genome mapping (OGM), an emerging technology for detecting SVs using a single-molecule strategy, has the potential to replace conventional methods. We compared OGM with conventional diagnostic methods for detecting SVs in various hematologic malignancies. Methods: Residual bone marrow aspirates from 27 patients with hematologic malignancies in whom SVs were observed using conventional methods (chromosomal banding analysis, FISH, an RNA fusion panel, and reverse transcription PCR) were analyzed using OGM. The concordance between the OGM and conventional method results was evaluated. Results: OGM showed concordance in 63% (17/27) and partial concordance in 37% (10/27) of samples. OGM detected 76% (52/68) of the total SVs correctly (concordance rate for each type of SVs: aneuploidies, 83% [15/18]; balanced translocation, 80% [12/15] unbalanced translocation, 54% [7/13] deletions, 81% [13/16]; duplications, 100% [2/2] inversion 100% [1/1]; insertion, 100% [1/1]; marker chromosome, 0% [0/1]; isochromosome, 100% [1/1]). Sixteen discordant results were attributed to the involvement of centromeric/telomeric regions, detection sensitivity, and a low mapping rate and coverage. OGM identified additional SVs, including submicroscopic SVs and novel fusions, in five cases. Conclusions: OGM shows a high level of concordance with conventional diagnostic methods for the detection of SVs and can identify novel variants, suggesting its potential utility in enabling more comprehensive SV analysis in routine diagnostics of hematologic malignancies, although further studies and improvements are required.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu