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Updated: Jul 3, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
Identification of copy number alterations and its association with pathological features in clear cell and papillary
Daisuke Matsuda1, Sok Kean Khoo, Aaron Massie
1Laboratory of Cancer Genetics/Sequencing, Van Andel Research Institute, 333 Bostwick Avenue N.E., Grand Rapids, MI 49503, USA.
Abstract:
We report and characterize the copy number alterations (CNAs) in 35 clear cell and 12 papillary renal cell carcinomas (RCC) using Affymetrix 100K SNP arrays. Novel gain and loss regions are identified in both subtypes. In addition, statistically significant CNA are detected and associated with the pathological features: VHL mutation status, tumor grades, and sarcomatoid component in clear cell RCC and in types 1 and 2 of papillary RCC. Florescence in situ hybridization confirmed the copy number gain in the transforming growth factor, beta-induced gene (TGFBI), which is a possible oncogene for clear cell RCC.
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