Universal Point of Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma
Autor: | Maureen E. Mork, Lianchun Xiao, Priya Rao, Michael J. Metcalfe, Surena F. Matin, Russell Broaddus, Firas G. Petros |
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Rok vydání: | 2018 |
Předmět: |
Adult
Male 0301 basic medicine Urologic Neoplasms congenital hereditary and neonatal diseases and abnormalities Amsterdam criteria medicine.medical_specialty Urology Point-of-care testing 03 medical and health sciences 0302 clinical medicine Risk Factors Internal medicine Carcinoma medicine Humans Genetic Testing Family history Aged Genetic testing Aged 80 and over Gynecology medicine.diagnostic_test business.industry Incidence (epidemiology) nutritional and metabolic diseases Microsatellite instability Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis Immunohistochemistry Lynch syndrome 030104 developmental biology Point-of-Care Testing 030220 oncology & carcinogenesis Female Microsatellite Instability business |
Zdroj: | Journal of Urology. 199:60-65 |
ISSN: | 1527-3792 0022-5347 |
Popis: | Patients with Lynch syndrome are at risk for upper tract urothelial carcinoma. We sought to identify the incidence and most reliable means of point of care screening for Lynch syndrome in patients with upper tract urothelial carcinoma.A total of 115 consecutive patients with upper tract urothelial carcinoma without a history of Lynch syndrome were universally screened during followup from January 2013 through July 2016. We evaluated patient and family history using AMS (Amsterdam criteria) I and II, and tumor immunohistochemistry for mismatch repair proteins and microsatellite instability. Patients who were positive for AMS I/II, microsatellite instability or immunohistochemistry were classified as potentially having Lynch syndrome and referred for clinical genetic analysis and counseling. Patients with known Lynch syndrome served as positive controls.Of the 115 patients 16 (13.9%) screened positive for potential Lynch syndrome. Of these patients 7.0% met AMS II criteria, 11.3% had loss of at least 1 mismatch repair protein and 6.0% had high microsatellite instability. All 16 patients were referred for germline testing, 9 completed genetic analysis and counseling, and 6 were confirmed to have Lynch syndrome. All 7 patients with upper tract urothelial carcinoma who had a known history of Lynch syndrome were positive for AMS II criteria and at least a single mismatch repair protein loss while 5 of 6 had high microsatellite instability.We identified 13.9% of upper tract urothelial carcinoma cases as potential Lynch syndrome and 5.2% as confirmed Lynch syndrome at the point of care. These findings have important implications for universal screening of upper tract urothelial carcinoma, representing one of the highest rates of undiagnosed genetic disease in a urological cancer. |
Databáze: | OpenAIRE |
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