Imperial College London
Portrait Picture

Dr James Kinross

Faculty of Medicine, Department of Surgery & Cancer

Reader in General Surgery
 
 
 
//

Contact

 

+44 (0)20 3312 1947j.kinross

 
 
//

Location

 

1029Queen Elizabeth the Queen Mother Wing (QEQM)St Mary's Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Reynolds:2021:10.1097/DCR.0000000000001825,
author = {Reynolds, IS and O'Connell, E and Fichtner, M and Blümel, A and Mason, SE and Kinross, J and McNamara, DA and Kay, EW and O'Connor, DP and Das, S and Burke, JP and Prehn, JHM},
doi = {10.1097/DCR.0000000000001825},
journal = {Diseases of the Colon and Rectum},
pages = {677--688},
title = {An insight into the driver mutations and molecular mechanisms underlying mucinous adenocarcinoma of the rectum.},
url = {http://dx.doi.org/10.1097/DCR.0000000000001825},
volume = {64},
year = {2021}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - BACKGROUND: Mucinous adenocarcinoma of the rectum accounts for 10% of all rectal cancers and has an impaired response to neoadjuvant chemoradiotherapy and worse overall survival. To date, insufficient genomic research has been performed on this histological subtype. OBJECTIVE: This study aims to define the mismatch repair deficiency rate and the driver mutations underpinning mucinous adenocarcinoma of the rectum and to compare it with rectal adenocarcinoma not otherwise specified. DESIGN: Immunohistochemistry and sequencing were performed on tumor samples from our tumor biobank. SETTINGS: This study was conducted across 2 tertiary referral centers. PATIENTS: Patients with mucinous adenocarcinoma and rectal adenocarcinoma not otherwise specified who underwent rectal resection between 2008 and 2018 were included. MAIN OUTCOME MEASURES: Mismatch repair status was performed by immunohistochemical staining. Mutations in the panel of oncogenes and tumor suppressor genes were determined by sequencing on the MiSeq V3 platform. RESULTS: The study included 33 patients with mucinous adenocarcinoma of the rectum and 100 patients with rectal adenocarcinoma not otherwise specified. Those with mucinous adenocarcinoma had a mismatch repair deficiency rate of 12.1% compared to 2.0% in the adenocarcinoma not otherwise specified cohort (p = 0.04). Mucinous adenocarcinoma and adenocarcinoma not otherwise specified rectal tumors had similar mutation frequencies in most oncogenes and tumor suppressor genes. No difference was found in the KRAS mutation rate (50.0% vs 37.1%, p = 0.29) or BRAF mutation rate (6.7% vs 3.1%, p = 0.34) between the cohorts. No difference was found between the cohorts regarding recurrence-free (p = 0.29) or overall survival (p = 0.14). LIMITATIONS: The major limitations of this study were the use of formalin-fixed, paraffin-embedded tissue over fresh-frozen tissue and the small number of patients included, in particular, in the mucinous rectal cohort. CONCLUSIONS
AU  - Reynolds,IS
AU  - O'Connell,E
AU  - Fichtner,M
AU  - Blümel,A
AU  - Mason,SE
AU  - Kinross,J
AU  - McNamara,DA
AU  - Kay,EW
AU  - O'Connor,DP
AU  - Das,S
AU  - Burke,JP
AU  - Prehn,JHM
DO  - 10.1097/DCR.0000000000001825
EP  - 688
PY  - 2021///
SN  - 0012-3706
SP  - 677
TI  - An insight into the driver mutations and molecular mechanisms underlying mucinous adenocarcinoma of the rectum.
T2  - Diseases of the Colon and Rectum
UR  - http://dx.doi.org/10.1097/DCR.0000000000001825
UR  - https://www.ncbi.nlm.nih.gov/pubmed/33955407
UR  - https://journals.lww.com/dcrjournal/Fulltext/2021/06000/An_Insight_Into_the_Driver_Mutations_and_Molecular.7.aspx
VL  - 64
ER  -
Download