Endometrial cancer, Lynch syndrome and screening: Literature review

Abstract

TEIXEIRA, B.B.S. Endometrial cancer, Lynch Syndrome and Screening: Literature review. 2002. Course Completion Paper (Medical Residency) - Faculty of Medicine, Federal University of Rio de Janeiro, Rio de Janeiro, 2022.

The incidence of Endometrium cancer (EC) has increased in recent years. Hereditary predisposition is the risk factor responsible for 5% of cases and Lynch Syndrome (LS) and the most frequent. Conversely, the cumulative risk in developing EC related to LS carriers is around 71%, behind colorectal cancer (RCC), which represents 80%. In addition, women with LS have 40 to 60% chance to develop EC, as the first clinical manifestation of this disease, behaving as a sentinel tumor. Such information serves as a timely tool for early screening in patients with family history, compatible with LS suggesting the importance of early screening for early diagnosis. In LS occurs mutations in genes germ inheritance responsible for encoding DNA incompatibility repair proteins, i.e.: hMLH1, hMSH2, hMSH6, hPMS2 and EPCAM. The understanding and change of attitude towards this finding are challenging, due to, a compreensive part of professionals in charge with this area, do not have a solid basis of the clinical-pathological characteristics of the EC related to LS. The methodology used, was a literature review, conducted through the search and collection of data in pubmed, VHL and Scielo databases ALL in English and Portuguese, published in national and international journals in the last 10 years. The selection of articles was made through a diacritical analysis, in which we relate the information and then the solutions. EC research in LS is still in the initial phase, that reduces the number of consistent studies and the level of evidence of recommendations regarding optimal screening and, therefore, conclusive early detection and treatment. The high risk of developing EC in women with LS, as well, as the parallel development of primary tumors throughout life, indicates the great value, in understanding this condition, as it directly implies the attendant attention of professionals assisting these patients. This reflects, in addition to attention, surveillance and screening through family history and screening exams.

DOI:https://doi.org/10.56238/sevened2023.004-057