DIAGNOSTIC TOOLS FOR PEUTZ-JEGHERS SYNDROME: A CLINICAL CASE STUDY

Abstract

Objective: To report a case of Peutz-Jeghers Syndrome, highlighting the diagnostic tools used, such as imaging exams, biopsy and genetic tests, and to highlight the importance of early diagnosis and multidisciplinary follow-up for the detection and prevention of complications associated with the syndrome, such as the development of tumors. Method: A clinical case study was performed, based on detailed anamnesis, physical examination, complementary exams (tomography, biopsy and biochemical exams) and genetic testing to confirm the diagnosis of Peutz-Jeghers Syndrome. The investigation included differential diagnosis and a multidisciplinary approach for the appropriate management of the patient. Final Considerations: The diagnosis of Peutz-Jeghers Syndrome requires an integrated approach, using a combination of clinical, histopathological and genetic exams. Early identification of the mutation in the STK11/LKB1 gene allows effective preventive surveillance, minimizing the risk of neoplastic complications. Multidisciplinary monitoring and regular examinations are essential to ensure the patient's quality of life, with a focus on screening for polyps and tumors.