Signet ring cell colorectal cancer: genomic insights into a rare subpopulation of colorectal adenocarcinoma.
Adenocarcinoma
/ drug therapy
Adolescent
Adult
Aged
Aged, 80 and over
Antineoplastic Combined Chemotherapy Protocols
/ therapeutic use
Biomarkers, Tumor
/ genetics
Carcinoma, Signet Ring Cell
/ drug therapy
Colorectal Neoplasms
/ drug therapy
DNA Methylation
Female
Follow-Up Studies
Gene Expression Regulation, Neoplastic
Genomics
/ methods
Humans
Liver Neoplasms
/ drug therapy
Lung Neoplasms
/ drug therapy
Male
Middle Aged
Mutation
Peritoneal Neoplasms
/ drug therapy
Prognosis
Retrospective Studies
Survival Rate
Young Adult
Journal
British journal of cancer
ISSN: 1532-1827
Titre abrégé: Br J Cancer
Pays: England
ID NLM: 0370635
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
11
04
2019
accepted:
24
07
2019
revised:
16
07
2019
pubmed:
14
8
2019
medline:
28
5
2020
entrez:
14
8
2019
Statut:
ppublish
Résumé
Signet ring cell carcinoma (SRCC) is a rare subtype of colorectal cancer (CRC). The aim of this study was to characterise the genomic alterations and outcomes of SRCC. Medical records of metastatic CRC (mCRC) patients whose tumours were evaluated by NGS analysis were reviewed. SC-mCRC were classified into two groups: SRCC (>50% signet ring cells) and adenocarcinoma (AC) with SC component (≤50% signet ring cells). Six hundred and sixty-five mCRC patients were included. Of the 93 mCRC cases with SC features, 63 had slides for review. Of those 63 cases, 35 were confirmed SRCC, and 28 were AC with SC component. Compared with AC group, KRAS and PIK3CA mutations (mts) were found in only 11% (OR: 0.13) and 3% (OR: 0.15) of SRCC cases, respectively. In contrast to the 44% rate of APC mts in AC group, only 3% of SRCC patients had APC mts (OR = 0.04). SRCC has distinct molecular features, including low rates of KRAS, PIK3CA and APC mts. Further study to identify activation pathways and potential therapeutic targets are needed.
Sections du résumé
BACKGROUND
Signet ring cell carcinoma (SRCC) is a rare subtype of colorectal cancer (CRC). The aim of this study was to characterise the genomic alterations and outcomes of SRCC.
METHODS
Medical records of metastatic CRC (mCRC) patients whose tumours were evaluated by NGS analysis were reviewed. SC-mCRC were classified into two groups: SRCC (>50% signet ring cells) and adenocarcinoma (AC) with SC component (≤50% signet ring cells).
RESULTS
Six hundred and sixty-five mCRC patients were included. Of the 93 mCRC cases with SC features, 63 had slides for review. Of those 63 cases, 35 were confirmed SRCC, and 28 were AC with SC component. Compared with AC group, KRAS and PIK3CA mutations (mts) were found in only 11% (OR: 0.13) and 3% (OR: 0.15) of SRCC cases, respectively. In contrast to the 44% rate of APC mts in AC group, only 3% of SRCC patients had APC mts (OR = 0.04).
CONCLUSIONS
SRCC has distinct molecular features, including low rates of KRAS, PIK3CA and APC mts. Further study to identify activation pathways and potential therapeutic targets are needed.
Identifiants
pubmed: 31406299
doi: 10.1038/s41416-019-0548-9
pii: 10.1038/s41416-019-0548-9
pmc: PMC6738104
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Clinical Trial
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
505-510Subventions
Organisme : NCI NIH HHS
ID : P30 CA016672
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA187238
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR003167
Pays : United States
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