Synchronous small bowel and colonic tumours in the absence of Lynch syndrome

2021 ◽  
Author(s):  
Allan M. F. Kwok ◽  
Tangqi J. Ng ◽  
Brian Draganic

2016 ◽  
Vol 48 ◽  
pp. e206
Author(s):  
M. Loiacono ◽  
V. Castrignano ◽  
F. Scotto


2012 ◽  
Vol 30 (35) ◽  
pp. 4409-4415 ◽  
Author(s):  
Christoph Engel ◽  
Markus Loeffler ◽  
Verena Steinke ◽  
Nils Rahner ◽  
Elke Holinski-Feder ◽  
...  

Purpose Patients with Lynch syndrome are at high risk for colon and endometrial cancer, but also at an elevated risk for other less common cancers. The purpose of this retrospective cohort study was to provide risk estimates for these less common cancers in proven carriers of pathogenic mutations in the mismatch repair (MMR) genes MLH1, MSH2, and MSH6. Patients and Methods Data were pooled from the German and Dutch national Lynch syndrome registries. Seven different cancer types were analyzed: stomach, small bowel, urinary bladder, other urothelial, breast, ovarian, and prostate cancer. Age-, sex- and MMR gene–specific cumulative risks (CRs) were calculated using the Kaplan-Meier method. Sex-specific incidence rates were compared with general population incidence rates by calculating standardized incidence ratios (SIRs). Multivariate Cox regression analysis was used to estimate the impact of sex and mutated gene on cancer risk. Results The cohort comprised 2,118 MMR gene mutation carriers (MLH1, n = 806; MSH2, n = 1,004; MSH6, n = 308). All cancers were significantly more frequent than in the general population. The highest risks were found for male small bowel cancer (SIR, 251; 95% CI, 177 to 346; CR at 70 years, 12.0; 95% CI, 5.7 to 18.2). Breast cancer showed an SIR of 1.9 (95% CI, 1.4 to 2.4) and a CR of 14.4 (95% CI, 9.5 to 19.3). MSH2 mutation carriers had a considerably higher risk of developing urothelial cancer than MLH1 or MSH6 carriers. Conclusion The sex- and gene-specific differences of less common cancer risks should be taken into account in cancer surveillance and prevention programs for patients with Lynch syndrome.



2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 1555-1555 ◽  
Author(s):  
Deepak B. Vangala ◽  
Christian Pox ◽  
Swetlana Ladigan ◽  
Christoph Engel ◽  
Robert Hueneburg ◽  
...  


2013 ◽  
Vol 108 ◽  
pp. S303
Author(s):  
Wiley Truss ◽  
Sudha Kodali ◽  
Klaus Monkemuller ◽  
Fredrick Weber


2017 ◽  
Vol 05 (07) ◽  
pp. E622-E626 ◽  
Author(s):  
Jasmijn Haanstra ◽  
Abdul Al-Toma ◽  
Evelien Dekker ◽  
Steven Vanhoutvin ◽  
Fokko Nagengast ◽  
...  

Abstract Background and study aims Lynch syndrome (LS) patients have an increased risk of small bowel cancer. The question is whether surveillance will lead to early detection of (pre)malignant lesions. We recently reported on prevalence of small bowel neoplasia (SBN) in LS patients as assessed by video capsule endoscopy (VCE). The aim of this prospective study was to determine the incidence of SBN. Patients and methods Asymptomatic LS patients who underwent a VCE were invited to undergo a second VCE procedure 2 years later. If abnormalities or polypoid lesions larger than 1 cm were detected, subsequent endoscopic procedures were performed. Results A total of 155 (78 %) of the initial 200 patients underwent a second VCE procedure after a mean of 2.2 (range 1 – 6) years. In 17 of the 155 (11 %) patients possibly significant lesions were detected, which required further investigation by means of gastroduodenoscopy (n = 8) or balloon-assisted endoscopy (n = 9). These procedures revealed no SBN. Conclusion No SBN was found after 2 years. Surveillance of the small bowel by VCE does not seem to be warranted in asymptomatic LS patients. This study was registered in the Clinical Trials.gov registry with identifier NCT00898768.



2015 ◽  
Vol 76 (9) ◽  
pp. 2225-2230
Author(s):  
Hirokazu KODAMA ◽  
Hiromichi SONODA ◽  
Tomoharu SHIMIZU ◽  
Hiroyuki OHTA ◽  
Eiji MEKATA ◽  
...  


Gut ◽  
2014 ◽  
Vol 64 (10) ◽  
pp. 1578-1583 ◽  
Author(s):  
Jasmijn F Haanstra ◽  
Abdul Al-Toma ◽  
Evelien Dekker ◽  
Steven A L W Vanhoutvin ◽  
Fokko M Nagengast ◽  
...  


2018 ◽  
pp. bcr-2018-225273
Author(s):  
Jessica Prince ◽  
Elizabeth Fox ◽  
Daniel Hancu ◽  
Giles Bond-Smith


2019 ◽  
Vol 51 ◽  
pp. e186
Author(s):  
A. Contaldo ◽  
C. Notaristefano ◽  
R.A. Zuppardo ◽  
M. Di Leo ◽  
M.B. Principi ◽  
...  


2020 ◽  
pp. jclinpath-2020-207040
Author(s):  
Manon Suerink ◽  
Gül Kilinç ◽  
Diantha Terlouw ◽  
Hristina Hristova ◽  
Lily Sensuk ◽  
...  

AimsPrevious estimates of the prevalence of mismatch repair (MMR) deficiency and Lynch syndrome in small bowel cancer have varied widely. The aim of this study was to establish the prevalence of MMR deficiency and Lynch syndrome in a large group of small bowel adenocarcinomas.MethodsTo this end, a total of 400 small bowel adenocarcinomas (332 resections, 68 biopsies) were collected through the Dutch nationwide registry of histopathology and cytopathology (Pathologisch-Anatomisch Landelijk Geautomatiseerd Archief (PALGA)). No preselection criteria, such as family history, were applied, thus avoiding (ascertainment) bias. MMR deficiency status was determined by immunohistochemical staining of MMR proteins, supplemented by MLH1 promoter hypermethylation analysis and next generation sequencing of the MMR genes.ResultsMMR deficiency was observed in 22.3% of resected and 4.4% of biopsied small bowel carcinomas. Prevalence of Lynch syndrome was 6.2% in resections and 0.0% in biopsy samples. Patients with Lynch syndrome-associated small bowel cancer were significantly younger at the time of diagnosis than patients with MMR-proficient and sporadic MMR-deficient cancers (mean age of 54.6 years vs 66.6 years and 68.8 years, respectively, p<0.000).ConclusionsThe prevalence of MMR deficiency and Lynch syndrome in resected small bowel adenocarcinomas is at least comparable to prevalence in colorectal cancers, a finding relevant both for treatment (immunotherapy) and family management. We recommend that all small bowel adenocarcinomas should be screened for MMR deficiency.



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