Academic Journal
Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population
| العنوان: | Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population |
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| المؤلفون: | Ito, Tetsuya, Kono, Koji, Eguchi, Hidetaka, Okazaki, Yasushi, Yamamoto, Gou, Tachikawa, Tetsuhiko, Akagi, Kiwamu, Okada, Yohei, Kawakami, Satoru, Morozumi, Makoto, Tamaru, Jun-ichi, Ishida, Hideyuki |
| المساهمون: | Ministry of Education, Culture, Sports, Science and Technology, Saitama Medical University Research Center for Genomic Medicine, AMED |
| المصدر: | Japanese Journal of Clinical Oncology ; volume 50, issue 1, page 80-88 ; ISSN 1465-3621 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2019 |
| الوصف: | Background The prevalence of Lynch syndrome and the use of universal tumor screening to identify Lynch syndrome among unselected patients with upper urinary tract urothelial carcinoma, which is associated with Lynch syndrome, have not been closely investigated yet. Methods A total of 166 tumors from 164 upper urinary tract urothelial carcinoma patients were tested for microsatellite instability and expression of mismatch repair proteins (MLH1, MHS2, MSH6 and PMS2) by immunohistochemistry. Genetic testing was performed for patients suspected of having Lynch syndrome. Clinicopathological factors, including familial and personal cancer history associated with mismatch repair deficiency, were evaluated. Results The frequency of high-level microsatellite instability and loss of at least one mismatch repair protein was 2.4% (4/164); the microsatellite instability and immunohistochemistry results showed complete concordance. Of these four patients, three were genetically proven to have Lynch syndrome, while the remaining one was highly suggestive for Lynch syndrome based on their personal cancer history. Univariate analysis showed that age<70 years (P = 0.04), ureter as the tumor location (P = 0.052), previous history/synchronous diagnosis of colorectal cancer (P < 0.01) and fulfillment of the criteria per the revised Bethesda guideline (P < 0.01) tended to be or were significantly associated with high-level microsatellite instability/mismatch repair loss. Conclusions The prevalence of Lynch syndrome among unselected upper urinary tract urothelial carcinoma patients was at least 1.8% in our study population. The screening efficacies of the microsatellite instability test and immunohistochemistry appear equivalent. Universal tumor screening may be a valid approach; however, selective screening methods that consider factors associated with mismatch repair loss/high-level microsatellite instability tumors require further investigation. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/jjco/hyz140 |
| الاتاحة: | https://doi.org/10.1093/jjco/hyz140 http://academic.oup.com/jjco/article-pdf/50/1/80/31952846/hyz140.pdf |
| Rights: | https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model |
| رقم الانضمام: | edsbas.76EE3107 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/jjco/hyz140 |
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