“Adeno carcinoma de colon derecho familiar no polipósico compatible con sindrome de lynch”.

Abstract

There are several oncological pathologies that have attracted the attention of several researchers including one of the most representative in the surgical field, have been involved in the colo-rectal system being the most frequent cancer of the digestive tract, within this context draws attention Lynch syndrome is the subject of this presentation because it is a disease that is expressed with the development of colorectal cancer at an early age (before age 45). Lynch syndrome is an autosomal dominant disease due to the presence of mutations in the DNA repair genes missing, mainly MSH2 and MLH1, which represent 90% of the total, and less frequently, MSH6 and PMS2. Clinically, a number of diagnostic criteria have been established to help identify families with Lynch syndrome, including the Amsterdam criteria published in 1991 and those corrected in 1999 Amsterdam II. The latter includes the risk of developing extra colonic tumors, with the genetic basis of Lynch syndrome, the Bethesda criteria were designed to identify patients with colorectal cancer to perform the molecular tumor study to identify markers of DNA repair deficiency (IMS) or loss of expression of the protein corresponding to the IHQ mutated gene that suggests the presence of a germinal mutation. These criteria include the family history and age of diagnosis, but also the pathological features suggestive of tumor instability.

The patient of whom I propose my clinical case agrees within the clinical criteria for Lynch syndrome is why the family history highlights the importance of a correct anamnesis investigating the family history in an exhaustive way, so the subject of study assists by the emergency department referring abdominal pain and subsequent to successive assessments and visits to the health institution is diagnosed right colon cancer and it is determined that similar cases within his family could be related to the criteria mentioned above .