作者
Maria Nieves Calvo, Sean Caruthers, Joseph Tripodi, Jane Houldsworth, Marc Fink, Scott Newman, Rong Chen, Wanying Zhang, Liu Liu, Yong Shi, Tomi Jun, Ken Onel, William Oh, Lisa Edelmann, Eric Schadt, Michael Rossi, Feras Hantash, Hussam Al-Kateb
发表日期
2022/11/1
期刊
Cancer Genetics
卷号
268
页码范围
20
出版商
Elsevier
简介
Background
Chromosomal copy number alterations (CNAs) and structural rearrangements (SR) are a key part of risk stratification and management of patients with MM. We developed a clinical paired tumor/normal WES/WTS assay that detects CNAs at one-copy difference from focal to whole genome, and gene fusion at 20% and 10% limit of detection, respectively.
Patients and Methods
We performed WES/WTS analysis utilizing DNA/RNA extracted from CD138+ enriched cells and buccal swab from 92 MM patients. Plasma cell content was not available for most cases. We compared the detection of CNAs, and SRs with other techniques currently in use including FISH, arrays and molecular analysis.
Results
Molecular alterations (MA) were detected in 82/92(89.1%) cases, whereas 65/92(70.7%) cases had CNAs. In cases with CNAs (indicating sufficient tumor content), deletions of (1p32), (1p12), or both were …
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