Diagnostic Approach And Management Of Lynch Syndrome (hereditary Nonpolyposis Coiorectal Carcinoma): A Guide For Clinicians

摘要

The patient with a family history for coiorectal carcinoma constitutes a complicated diagnostic challenge involving many clinicians. The diagnostic workup of familial coiorectal cancer is an elaborate and time consuming process in which the family and several medical specialists closely collaborate. However, establishing a diagnosis can be very rewarding. If a mutation is detected in the family, a satisfactory explanation can be provided for an accumulation of tumors at young age, and often of untimely death. Appropriate presymptomatic testing can be offered to reduce mortality among at-risk family members, and relatives not at risk can avoid uncertainty and needlessly intensive surveillance.rnWe show the differential diagnostic considerations when an individual with a family history of coiorectal carcinoma is encountered, with emphasis on Lynch syndrome (Hereditary Nonpolyposis Coiorectal Carcinoma [HNPCC]). Practical recommendations for laboratory workup of suspected Lynch syndrome, including analysis of tumor tissue by microsatellite instability analysis and immunohistochemistry, and germline DNA analysis are given. Furthermore, the clinical management after a molecular diagnosis has been made is described. The diagnostic scheme presented here allows efficient and effective analysis of coiorectal carcinoma cases with (suspected) Lynch syndrome, making optimal use of currently available technology.