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Kim E, Lee B, Lee JW, et al. Comparison of Next-Generation Sequencing and Fluorescence In Situ Hybridization for Detection of Segmental Chromosomal Aberrations in Neuroblastoma. Diagnostics (Basel). 2021;11(9)doi: 10.3390/diagnostics11091702.
Kim, E., Lee, B., Lee, J. W., Sung, K. W., & Kim, J. S. (2021). Comparison of Next-Generation Sequencing and Fluorescence In Situ Hybridization for Detection of Segmental Chromosomal Aberrations in Neuroblastoma. Diagnostics (Basel, Switzerland), 11(9), . https://doi.org/10.3390/diagnostics11091702
Kim, Eojin, et al. "Comparison of Next-Generation Sequencing and Fluorescence In Situ Hybridization for Detection of Segmental Chromosomal Aberrations in Neuroblastoma." Diagnostics (Basel, Switzerland) vol. 11,9 (2021). doi: https://doi.org/10.3390/diagnostics11091702
Kim E, Lee B, Lee JW, Sung KW, Kim JS. Comparison of Next-Generation Sequencing and Fluorescence In Situ Hybridization for Detection of Segmental Chromosomal Aberrations in Neuroblastoma. Diagnostics (Basel). 2021 Sep 17;11(9). doi: 10.3390/diagnostics11091702. PMID: 34574043; PMCID: PMC8465051.
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Diagnostics (Basel). 2021 Sep 17;11(9). doi: 10.3390/diagnostics11091702.

Comparison of Next-Generation Sequencing and Fluorescence In Situ Hybridization for Detection of Segmental Chromosomal Aberrations in Neuroblastoma.

Diagnostics (Basel, Switzerland)

Eojin Kim, Boram Lee, Ji Won Lee, Ki Woong Sung, Jung-Sun Kim

Affiliations

  1. Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
  2. Samsung Genome Institute, Research Institute for Future Medicine, Samsung Medical Center, Seoul 06351, Korea.
  3. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
  4. Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul 06351, Korea.

PMID: 34574043 PMCID: PMC8465051 DOI: 10.3390/diagnostics11091702

Abstract

The aim of this study was to compare next-generation sequencing (NGS) with the traditional fluorescence in situ hybridization (FISH) for detecting segmental chromosomal aberrations (SCAs) such as 1p deletion, 11q deletion and 17q gain, which are well-known predictive markers for adverse outcome in neuroblastoma. The tumor tissue obtained from 35 patients with neuroblastoma was tested by FISH and targeted NGS, which is specially designed to detect copy number alterations across the entire chromosomal region in addition to mutations in 353 cancer-related genes. All chromosomal copy number alterations were analyzed using the copy number variation plot derived from targeted NGS. FISH was performed to detect 1p deletion, 11q deletion and 17q gain. The copy numbers of 1p, 11q, and 17q obtained via NGS were correlated with those acquired via FISH. The SCAs determined by NGS were matched with those by FISH. Most 17q gain of mismatched cases detected by NGS alone showed a subsegmental gain of 17q. FISH revealed 11q deletion and 17q gain in a few tumor cells of two cases, which were not detected by NGS. NGS can be a sensitive complementary and alternative method to the conventional FISH for detecting SCAs.

Keywords: 11q deletion; 17q gain; 1p deletion; fluorescence in situ hybridization (FISH); neuroblastoma; next-generation sequencing (NGS); segmental chromosomal aberration (SCA)

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