Peutz-Jeghers hamartomatous polyp in a teenager patient: case report

Abstract

Introduction: Peutz–Jeghers Syndrome (PJS) is an autosomal dominant hereditary disorder characterized by hamartomatous polyps, mucocutaneous pigmentation, and a high predisposition to the development of gastrointestinal and extraintestinal neoplasms. Early diagnosis is essential for implementing lifelong oncological surveillance programs. Clinical Case: We present the case of a 17-year-old female patient with severe abdominal pain, hematochezia, and tenesmus. Imaging studies revealed a large polypoid tumor in the sigmoid colon; consequently, a radical laparoscopic sigmoidectomy was performed. Histopathological analysis showed a hamartomatous proliferation with a fibrovascular arborizing pattern, smooth muscle fascicles extending from the muscularis mucosae, and intestinal mucosa without dysplasia or cytological atypia. Immunostaining for Smooth Muscle Actin (SMA) confirmed the characteristic architecture. Discussion: The colonic localization of polyps in PJS is less frequent than in the small intestine, highlighting the relevance of this finding in an adolescent patient. The arborizing histological pattern constitutes one of the primary diagnostic criteria, differentiating it from other similar entities. This case underscores the importance of clinico-pathological correlation and the need for early surveillance. Conclusion: This report emphasizes the need to consider this syndrome in the differential diagnosis of large polyps in adolescents and to implement strict, lifelong oncological surveillance programs.