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Clinicopathological aspects and differential diagnostics of Lynch syndrome
Dušek, Martin ; Daum, Ondřej (advisor) ; Zámečník, Josef (referee) ; Šíma, Radek (referee)
Lynch syndrome (LS), formerly known as hereditary nonpolyposis colorectal cancer (HNPCC) is a familial cancer syndrome with an autosomal dominant inheritance pattern. Its genetic basis is most commonly a germline mutation in one of the mismatch repair (MMR) genes, that are responsible for correction of errors ocurring during DNA replication. Dysfunction of this repairing system leads to the formation and progression of tumors, especially colorectal cancer (CRC). According to the literature LS represents 3-5 % of all CRC. Additional extracolonic tumors associated with LS include endometrium, ovary, stomach, small bowel, pancreas, hepatobiliary tract, upper uroepithelial tract, brain and cutaneous sebaceous tumors. Early age of onset is a typical feature of LS-associated tumors, in comparison with general population. Malignancy is often the first manifestation, therefore the LS diagnosis is important not only for the individual patient and his next management, but also for his family members. An exception is represented by the formation of cutaneous sebaceous tumors prior to internal malignancy in one of LS phenotypic variant, called Muir-Torre syndrome. Properly selected screening methods can prevent the formation of malignant tumors by early detection of their premalignant lesions, or at least early...
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