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Incidence and Clinical Characteristics of Colonic and Extra Colonic Lynch Syndrome Manifestations in Uruguayan Mismatch Repair Carriers

Background: Colon cancer is a frequent diagnosis worldwide affecting both men and women. Lynch syndrome in an autosomal dominant inheritable condition, accountable for 5 to 7% of colon cancer, as well as other malignancies.

Methodology: From a Uruguayan high risk cancer clinical setting, adult probands from 115 families, registered between 2015 and 2016, meeting Amsterdam I, II or Bethesda Revised guidelines, were tested for MMR genes and EPCAM.

Results: Pathogenic Lynch Syndrome mutations were detected in 23.4% families. A total of 90 mutation carriers were diagnosed, from which information regarding molecular diagnosis, cancer diagnosis, cancer site, tumor staging, age at diagnosis and course of treatment was carefully analyzed. Cancer diagnosis before determination of carrier status was seen in 52.5% individuals; were 46.8% had more than one cancer diagnosis throughout lifetime, mostly colon cancer. The average age for colon cancer was 36.9 years old and 77% were stage II at diagnosis. Consequently, surgical treatment was the most frequent option, and partial colectomies the preferred surgical choice.

Conclusions: Young age of onset and metachronous tumors are part of Lynch syndrome hallmark. How effective surveillance strategies are, are reflected on how well and timely we identify these young high risk adults. Treatment options are most frequently surgical ones, because of the stage these malignant tumors are found upon diagnosis. There is no unanimous consensus about the best surgical strategy for colon cancer Lynch syndrome carriers.


Florencia N, Adriana DV and Carlos S

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