Síndrome de Peutz-Jeghers y adenocarcinoma en pólipo hamartomatoso duodenal: reporte de caso en un paciente joven

• Autores: Bedoya Ismodes, Enrique Oswaldo, Matute-Sotelo, Diego, Chuquillanqui Llimpe, Jorge, Sobero Contreras, Diego, Pino, Lino, Portugal, Karem, Juárez, Néstor
• Formato: artículo
• Fecha de Publicación: 2025
• Institución: Universidad de San Martín de Porres
• Repositorio: Horizonte médico
• Lenguaje: español; inglés
• OAI Identifier: oai:horizontemedico.usmp.edu.pe:article/3843
• Enlace del recurso: https://horizontemedico.usmp.edu.pe/index.php/horizontemed/article/view/3843
• Nivel de acceso: acceso abierto
• Materia: Síndrome de Peutz-Jeghers; Pólipos; Adenocarcinoma; Duodeno; Carcinoma de Células en Anillo de Sello; Neoplasias Gastrointestinales

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation, with a markedly increased risk of malignancy. We report the case of a 25-year-old female patient with a clinical diagnosis of PJS since adolescence, with no detectable mutation in the STK11 gene. She presented with persistent abdominal pain, and imaging revealed a duodenal tumor. Surgical treatment included gastroduodenal resection, segmental resection of the small intestine, and cholecystectomy. Histopathology confirmed a poorly differentiated (G3) signet ring cell adenocarcinoma arising within a hamartomatous duodenal polyp, limited to the lamina propria, without lymphovascular or nodal invasion (pT1aN0). The patient recovered uneventfully and remains under close oncologic and gastroenterological surveillance. This case highlights the importance of regular endoscopic monitoring in patients with PJS, even in the absence of a confirmed genetic mutation, and underscores the potential for early malignant transformation of hamartomatous polyps.