Small-Bowel Neoplasia in Asymptomatic Lynch Syndrome: StudySmall-Bowel Neoplasia in Asymptomatic Lynch Syndrome: Study
The prevalence of small-bowel neoplasia in asymptomatic patients with Lynch syndrome is too low to warrant screening, researchers say. Reuters Health Information
The additional diagnostic value of dye-based chromoendoscopy (CE) compared to standard and high-definition white-light endoscopy (SD-WLE and HD-WLE) for surveillance of Lynch syndrome patients is subject to debate.
In this study, we performed Targeted Next-Generation Sequencing of MMR pathway genes MLH1, MSH2, MSH6, EPCAM, and PMS2 in a cohort of 711 patients with hereditary BC, 60 patients with sporadic BC, and 492 healthy donors. Sixty-nine patients (9.7%) with hereditary BC harbored at least one germline mutation in the MMR pathway genes, of them 32 patients (4.5%) harbored mutations in MMR pathway genes which we define as pathogenic or likely pathogenic, and of them 26 patients (3.6%) did not have any pathogenic mutations in DDR pathway genes, compared to two mutations in MMR pathway genes (0.4%) detected in a group of 492 health...
Conclusion: This cohort demonstrates the effectiveness of LS surveillance and suggests possible tailored surveillance strategies by gene mutation and family history. PMID: 32448028 [PubMed - as supplied by publisher]
No abstract available
ConclusionsAmong a high-risk population for CRC, in particular LS, an extended surgery may be considered in CRC patients with specific risk factors (MLH1 orMSH2 germline pathogenic variants, history of colorectal adenomas) to reduce the risk of mCRC development.
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Genetics in Medicine, Published online: 15 May 2020; doi:10.1038/s41436-020-0819-0Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer
Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is recommended in endometrial carcinomas as a screening test for Lynch syndrome, and mismatch repair deficiency (MMRd) is reported in ∼30% of cases. However, few studies have evaluated the rate of MMR loss in uterine carcinosarcomas. A 5-year retrospective database search of uterine carcinosarcomas was performed at 3 academic institutions. The histologic diagnoses, type of carcinoma present, and MMR IHC interpretations were confirmed by a gynecologic pathologist. One hundred three cases of uterine carcinosarcomas with available MMR IHC results were identifie...
ConclusionThese results indicate that there is scope to further increase provision of advice at FCCs to ensure that all carriers receive recommendations about evidence-based risk management. A multi-pronged behaviour change and implementation science approach tailored to specific barriers is likely to be needed to achieve optimal clinician behaviours and outcomes for carriers.