INTEGRATIVE REVIEW: PATHOPHYSIOLOGY, DIAGNOSIS, PRESENTATION AND MANAGEMENT OF ADULT PATIENTS WITH LYNCH SYNDROME

• DOI: https://doi.org/10.22533/at.ed.1594482429055

• Palavras-chave: Lynch syndrome; diagnosis; treatment.

• Keywords: Lynch syndrome; diagnosis; treatment.

• Abstract:

  Introduction: Lynch syndrome (LS) is an autosomal dominant hereditary disease characterized by increased susceptibility to the appearance of numerous cancers, with the main pathogenic variants related to DNA repair incompatibility, more specifically related to changes in the MLH1 genes, MSH2, MSH6 and PMS2, or deletions of the EPCAM gene. Objective: To clearly explain to the general practitioner how to diagnose and treat LS, aiming to have a positive impact on the underdiagnosis of LS. Methods: Integrative literature review carried out in the databases of PUBMED, Virtual Health Library (VHL), SciELO and LILACS, with the following descriptors “Lynch Syndrome”, “diagnosis” and “treatment” and the Boolean “AND”. The filters used were “last 5 years” and “free text”. Non-relevant articles were excluded, totaling 396, with 28 articles being included in this review. Results: Diagnosis begins with screening tests, which are immunohistochemistry and polymerase chain reaction (PCR), however, confirmation is only with genetic tests. It is recommended to carry out screening and surveillance procedures, treating each neoplasm and functional status of the patient. 

  
  Conclusion: LS is the most common genetic predisposition for hereditary cancer, but remains underdiagnosed. Therefore, diagnostic knowledge and active search for predisposed family members are essential, as is early intervention.