Cancerul endometrial şi sindromul Lynch: asemănări şi determinism genetic

Introduction. Lynch syndrome (LS), which was formerly re­ferred to as hereditary nonpolyposis colorectal cancer (HNPCC), is a type of inherited disease that is autosomal do­mi­nant in nature. This condition is caused by the pre­sence of germline pathogenic variants (PVs) in the mis­match repair (MMR) genes. MMR’s primary function is to maintain genomic stability by repairing mismatches that arise during DNA replication. The malfunction of MMR can lead to changes in the length of a microsatellite DNA called microsatellite instability (MSI) and increase sus­cep­ti­bi­lity to tumors. There are two types of Lynch syn­dromes: type I Lynch syndrome and type II Lynch syn­drome, based on the location of the tumors. The most pre­va­lent extraintestinal sentinel cancer of LS is referred to as Lynch syndrome-associated endometrial cancer (LS-EC). Wo­men with Lynch syndrome have a likelihood of 40-60% of developing endometrial cancer as their initial ma­lig­nan­cy. LS-EC is a sentinel cancer of Lynch syndrome, in­di­ca­ting the pos­si­bi­lity of the development of other LS-as­so­cia­ted cancers in the future. Therefore, early screening and preventative stra­te­gies are necessary to reduce the mor­bi­di­ty and mortality caused by cancer. This article pre­sents an overview of the re­search progress on LS-EC, en­com­pas­sing genetic alterations, cli­ni­co­patho­lo­gi­cal fea­tures, screening, diagnosis, surveillance, pre­ven­tion and therapy. Materials and method. A review of the li­te­ra­ture was performed regarding the current status of know­ledge of Lynch syndrome-associated endometrial can­­cer, along with methods for diagnosis, screening and pre­­ven­­tion of cancers. Results. For women who have Lynch syn­drome, the estimated lifetime cumulative risk of de­ve­lo­p­ing en­do­me­trial cancer is between 40% and 60%. There is no exis­ting evidence that indicates an advantage in survival for individuals who are at equal or higher risk of de­ve­lop­ing co­lo­rec­tal cancer, compared to those who have other forms of cancer. When comparing these cases, there is a con­nec­tion between Lynch syndrome and an increased risk of endometrial can­cer. The provision of sporadic cases can be achieved through a com­bi­nation of medical history that pertains to both the fa­mily and the individual, as well as tumor testing. The current state of gynecologic can­cer research has provided an effective founda­tion for the diag­no­sis of Lynch syndrome in women who have been diag­nosed with endometrial cancer. The guidelines for screening wo­men with Lynch syndrome entail a yearly pro­ce­dure of endometrial sampling and transvaginal testing. It is recommended to begin ultrasonography screenings bet­ween the ages of 30 and 35 years old. Conclusions. The cli­ni­cal im­pli­ca­tions of diagnosing Lynch syndrome in patients with en­do­me­trial cancer are significant. Decreasing the pro­ba­bi­li­ty of certain outcomes can be achieved through scre­ening and pre­ven­tion practices for both individuals and their families.