AI Article Synopsis
- The study aimed to determine the prevalence of mismatch repair (MMR) deficiency and Lynch syndrome in small bowel adenocarcinomas, addressing previous inconsistencies in estimates.
- In a large sample of 400 cases (comprising both resections and biopsies), MMR deficiency was found in 22.3% of resections and 4.4% of biopsies, while Lynch syndrome was identified in 6.2% of resections, with none in biopsies.
- The results show that patients with Lynch syndrome are diagnosed at a younger age compared to those with other types of small bowel cancer, suggesting the importance of screening all small bowel adenocarcinomas for MMR deficiency for better treatment and family
Article Abstract
Aims: Previous 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.
Methods: To 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 promoter hypermethylation analysis and next generation sequencing of the MMR genes.
Results: MMR 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).
Conclusions: The 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8543220 | PMC |
| http://dx.doi.org/10.1136/jclinpath-2020-207040 | DOI Listing |
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