Comprehensive analysis of somatic mutations in colorectal cancer with peritoneal metastasis

Ju Hee Lee, Byungkyu Ahn, Seung Sam Baik, Kang Hong Lee

Research output: Contribution to journalArticle

Abstract

Background: To analyze for genetic mutations which may presage peritoneal metastasis by using targeted next-generation sequencing (NGS). Materials and Methods: Formalin-fixed, paraffin-embedded primary tumor specimens were obtained from 10 patients with small obstructing colorectal cancer and peritoneal metastasis (group A) and five with large non-obstructing colorectal cancer and no recurrence (group B). DNA was extracted for the sequencing of 409 cancer genes. The distribution of genetic mutations was compared between the two groups to find genetic mutations related to peritoneal metastasis. Results: When the samples were sorted based on similarity of gene expression by hierarchical clustering analysis, the samples were well divided between the two study groups. Mutations in AT-rich interactive domain-containing protein 1A (ARID1A), polycystic kidney and hepatic disease 1 (PKHD1), ubiquitin-protein ligase E3 component n-recognin 5 (UBR5), paired box 5 (PAX5), tumor protein p53 (TP53), additional sex combs like 1 (ASXL1) and androgen receptor (AR) genes were detected more frequently in group A. Conclusion: A number of somatic mutations presumed to be relevant to colorectal cancer with peritoneal metastasis were identified in our study by NGS.

Original languageEnglish
Pages (from-to)447-452
Number of pages6
JournalIn Vivo
Volume33
Issue number2
DOIs
StatePublished - 2019 Mar 1

Fingerprint

Tumors
Colorectal Neoplasms
Genes
Neoplasm Metastasis
Mutation
Ubiquitin-Protein Ligases
Androgen Receptors
Gene expression
Paraffin
Formaldehyde
Proteins
PAX5 Transcription Factor
Autosomal Recessive Polycystic Kidney
DNA
Comb and Wattles
Neoplasm Genes
Cluster Analysis
Neoplasms
Gene Expression
Recurrence

Keywords

  • Colorectal cancer
  • Peritoneal metastasis
  • Somatic mutations

Cite this

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title = "Comprehensive analysis of somatic mutations in colorectal cancer with peritoneal metastasis",
abstract = "Background: To analyze for genetic mutations which may presage peritoneal metastasis by using targeted next-generation sequencing (NGS). Materials and Methods: Formalin-fixed, paraffin-embedded primary tumor specimens were obtained from 10 patients with small obstructing colorectal cancer and peritoneal metastasis (group A) and five with large non-obstructing colorectal cancer and no recurrence (group B). DNA was extracted for the sequencing of 409 cancer genes. The distribution of genetic mutations was compared between the two groups to find genetic mutations related to peritoneal metastasis. Results: When the samples were sorted based on similarity of gene expression by hierarchical clustering analysis, the samples were well divided between the two study groups. Mutations in AT-rich interactive domain-containing protein 1A (ARID1A), polycystic kidney and hepatic disease 1 (PKHD1), ubiquitin-protein ligase E3 component n-recognin 5 (UBR5), paired box 5 (PAX5), tumor protein p53 (TP53), additional sex combs like 1 (ASXL1) and androgen receptor (AR) genes were detected more frequently in group A. Conclusion: A number of somatic mutations presumed to be relevant to colorectal cancer with peritoneal metastasis were identified in our study by NGS.",
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Comprehensive analysis of somatic mutations in colorectal cancer with peritoneal metastasis. / Lee, Ju Hee; Ahn, Byungkyu; Baik, Seung Sam; Lee, Kang Hong.

In: In Vivo, Vol. 33, No. 2, 01.03.2019, p. 447-452.

Research output: Contribution to journalArticle

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AB - Background: To analyze for genetic mutations which may presage peritoneal metastasis by using targeted next-generation sequencing (NGS). Materials and Methods: Formalin-fixed, paraffin-embedded primary tumor specimens were obtained from 10 patients with small obstructing colorectal cancer and peritoneal metastasis (group A) and five with large non-obstructing colorectal cancer and no recurrence (group B). DNA was extracted for the sequencing of 409 cancer genes. The distribution of genetic mutations was compared between the two groups to find genetic mutations related to peritoneal metastasis. Results: When the samples were sorted based on similarity of gene expression by hierarchical clustering analysis, the samples were well divided between the two study groups. Mutations in AT-rich interactive domain-containing protein 1A (ARID1A), polycystic kidney and hepatic disease 1 (PKHD1), ubiquitin-protein ligase E3 component n-recognin 5 (UBR5), paired box 5 (PAX5), tumor protein p53 (TP53), additional sex combs like 1 (ASXL1) and androgen receptor (AR) genes were detected more frequently in group A. Conclusion: A number of somatic mutations presumed to be relevant to colorectal cancer with peritoneal metastasis were identified in our study by NGS.

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