RGD Reference Report - Molecular Characterization of Colorectal Signet-Ring Cell Carcinoma Using Whole-Exome and RNA Sequencing. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Molecular Characterization of Colorectal Signet-Ring Cell Carcinoma Using Whole-Exome and RNA Sequencing.

Authors: Nam, Jae-Yong  Oh, Bo Young  Hong, Hye Kyung  Bae, Joon Seol  Kim, Tae Won  Ha, Sang Yun  Park, Donghyun  Lee, Woo Yong  Kim, Hee Cheol  Yun, Seong Hyeon  Park, Yoon Ah  Joung, Je-Gun  Park, Woong-Yang  Cho, Yong Beom 
Citation: Nam JY, etal., Transl Oncol. 2018 Aug;11(4):836-844. doi: 10.1016/j.tranon.2018.04.007. Epub 2018 May 7.
RGD ID: 126779566
Pubmed: PMID:29747153   (View Abstract at PubMed)
PMCID: PMC6051939   (View Article at PubMed Central)
DOI: DOI:10.1016/j.tranon.2018.04.007   (Journal Full-text)


BACKGROUND: Signet-ring cell carcinoma (SRCC) is a very rare subtype of colorectal adenocarcinoma (COAD) with a poor clinical prognosis. Although understanding key mechanisms of tumor progression in SRCCs is critical for precise treatment, a comprehensive view of genomic alterations is lacking.
MATERIALS AND METHODS: We performed whole-exome sequencing of tumors and matched normal blood as well as RNA sequencing of tumors and matched normal colonic tissues from five patients with SRCC.
RESULTS: We identified major somatic alterations and characterized transcriptional changes at the gene and pathway level. Based on high-throughput sequencing, the pattern of mutations and copy number variations was overall similar to that of COAD. Transcriptome analysis revealed that major transcription factors, such as SRF, HNF4A, ZEB1, and RUNX1, with potential regulatory roles in key pathways, including focal adhesion, the PI3K-Akt signaling pathway, and the MAPK signaling pathway, may play a role in the tumorigenesis of SRCC. Furthermore, significantly upregulated genes in SRCCs were enriched for epithelial-mesenchymal transition genes, and accumulation of mucin in intracytoplasm was associated with the overexpression of MUC2.
CONCLUSION: The results indicate that the molecular basis of colorectal SRCC exhibits key differences from that of consensus COAD. Our findings clarify important genetic features of particular abnormalities in SRCCs.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
RUNX1Humancolon signet ring adenocarcinoma  IEP mRNA:increased expression:colonRGD 
Runx1Ratcolon signet ring adenocarcinoma  ISORUNX1 (Homo sapiens)mRNA:increased expression:colonRGD 
Runx1Mousecolon signet ring adenocarcinoma  ISORUNX1 (Homo sapiens)mRNA:increased expression:colonRGD 
RUNX1Humancolorectal adenocarcinoma  IEP mRNA:increased expression:colonRGD 
Runx1Ratcolorectal adenocarcinoma  ISORUNX1 (Homo sapiens)mRNA:increased expression:colonRGD 
Runx1Mousecolorectal adenocarcinoma  ISORUNX1 (Homo sapiens)mRNA:increased expression:colonRGD 

Objects Annotated

Genes (Rattus norvegicus)
Runx1  (RUNX family transcription factor 1)

Genes (Mus musculus)
Runx1  (runt related transcription factor 1)

Genes (Homo sapiens)
RUNX1  (RUNX family transcription factor 1)


Additional Information