Cancer, Lynch Syndrome, MMR Mutation, Small-bowel Adenocarcinoma, Small Bowel Adenoma
Conditions
Keywords
Cancer, Lynch syndrome, Capsule endoscopy, Screening, Small bowel, Small-bowel adenoma, Small-bowel adenocarcinoma, Small-bowel cancer, Small-bowel capsule endoscopy, pathogenic variant, DNA mismatch repair gene (MMR), MLH1, MSH2, MSH6, PMS2, EPCAM
Brief summary
The impact of small bowel (SB) capsule endoscopy (CE) on the screening (followed by diagnosis and treatment) of (pre)neoplastic lesions of the small bowel in Lynch syndrome (LS) patients is unknown. The iCARE4Lynch study is a retrospective cohort of patients carrying a pathogenic variant of the DNA mismatch repair gene (MMR) (MLH1, MSH2, MSH6, PMS2, EPCAM) who had had at least one SBCE for screening of small bowel (pre)neoplastic lesions between January 1st 2000 and December 31 2024.
Detailed description
Population study Participating investigators Members of the international CApsule endoscopy REsearch (iCARE) group Objectives The primary objective of the study is to estimate the diagnostic performance of a first (index) SB CE for screening of small bowel (pre)neoplastic lesions in patients with LS. Secondary objectives are to estimate, in this setting: * the frequency and type of adverse events related to the performance of SB CE; * the technical performances of SB CE; * diagnostic performance of subsequent SB CEs; * the age at diagnosis of SB (pre)neoplastic lesions * the therapeutic impact of CE detection of SB lesions * the frequency of SB (pre)neoplastic lesions found, depending on the type of pathogenic DNA mismatch repair gene variants. Origin of personal health data (source(s) used) This research focuses on the analysis of data collected as part of the routine clinical care of patients (no additional examination will be requested). Data will be collected from patient medical records (paper and digital). Personal data circuit and method for protecting the confidentiality of personal data The personal data circuit concerns the use of care data from capsule endoscopy (CE) examination reports in paper files or stored in the Orbis software present in the APHP computer network or the CE software of each associated hospital center. A correspondence table with order numbers will be used. There will be no circulation or exchange of data. Access to the data is secured at the APHP network and the data will be archived for 15 years in the coordinating center. Information concerning deceased persons, including that which appears on death certificates, may be processed for research, study or health evaluation purposes, unless the patient has, during his or her lifetime, expressed his or her written refusal. The vital status of patients will be investigated before data collection (alive or deceased). Variables and analysis Patient data: Age at SBCE; Gender; Pathogenic variant of MMR gene; History of LS-related cancer; History and type of digestive surgery; First-degree family history (parents, siblings, children) of small bowel adenocarcinoma; Indication for SBCE: screening, family history, clinical or radiological diagnosis; Timing and organization of the study, research or evaluation: Data collected from January 1st 2000 to December 31st 2024. Total study duration: 12 months
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patient carrying a pathogenic variant of the DNA mismatch repair gene (MMR) (MLH1, MSH2, MSH6, PMS2, EPCAM) * Capsule endoscopy screening for (pre)neoplastic lesions of the small intestine * No opposition to the reuse of healthcare data for research purposes
Exclusion criteria
* Absence of documented MMR gene variant * Opposition to the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| proportion of patients in whom at least one small bowel pre-neoplastic (low or high grade adenoma) or neoplastic (adenocarcinoma) lesion, secondarily proven during follow-up, was identified, compared to the total number of patients with index CE in this | At the end of the study (12 month) | Diagnostic performance of index SBCE |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Proportion of adverse events during SBCE | At the end of the study (12 month) | — |
| Completeness rate to evaluate technical performances of SBCE | At the end of the study (12 month) | completeness rate is the entire small bowel visualized, depending on past surgical history |
| Small bowel recording duration to evaluate technical performances of SBCE | 12 months | — |
| Recourse to endoscopic techniques (duodenal release) when the capsule cannot be ingested or ingestion has failed to evaluate technical performances of SBCE | 12 months | — |
| Diagnostic performance of subsequent SBCE | At the end of the study (12 month) | Proportion of patients in whom at least one small bowel pre-neoplastic (low or high grade adenoma) or neoplastic (adenocarcinoma) lesion, secondarily proven during follow-up, was identified on a follow up SBCE, compared to the total number of patients with follow-up SBCE in this setting. |
| Age at diagnosis of small bowel (pre)neoplastic lesions | At the end of the study (12 month) | Age at diagnosis of small bowel (pre)neoplastic lesions in patients with LS, monitored by repeat SBCE; |
| Frequency of small bowel (pre)neoplastic lesions found by SBCE in patients with LS depending on the type of pathogenic DNA mismatch repair gene variants. | At the end of the study (12 month) | Diagnostic performance according to genetic variants |
| Type of treatment of any lesion of (pre)neoplastic appearance of the small bowel detected by SBCE. | At the end of the study (12 month) | Type of treatment: endoscopic, surgical, pharmacological, abstention or other. |
| Post-therapeutic follow-up | At the end of the study (12 month) | Post-therapeutic follow-up of any lesion of (pre)neoplastic appearance of the small bowel detected on a SBCE: anatomopathological analysis of any lesion of (pre)neoplastic appearance of the small bowel detected by SBCE, and consequences (cure, recurrence, additional treatments, death). |
Countries
France
Contacts
CONTACTXavier DRAY, MD PhD
CONTACTAymeric BECQ, MD
Outcome results
None listed