Peutz-Jeghers syndrome and adenocarcinoma in a duodenal hamartomatous polyp: a case report in a young patient

Bedoya-Ismodes E.O.; Matute-Sotelo D.; Llimpe J.C.; Contreras D.S.; Pino L.; Portugal K.; Juárez N. · Horizonte Medico (2025) · DOI: 10.24265/horizmed.2025.v25n4.12

Resumen

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant genetic disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation, with an increased risk of developing malignant neoplasms. We report the case of a 25-year-old female patient with a clinical diagnosis of PJS since adolescence and no detectable mutation in the STK11 gene. She underwent surgery for persistent abdominal pain, during which a duodenal tumor was detected. A gastroduodenal resection, segmental small bowel resection, and cholecystectomy were performed. Histopathological examination revealed a poorly differentiated signet ring cell adenocarcinoma, grade 3 (G3) arising within a hamartomatous polyp, without lymphovascular or nodal involvement (pT1aN0). This finding represents an unusual and aggressive form of malignant transformation, particularly in young patients, highlighting the need for close surveillance. The patient had a favorable postoperative course with satisfactory recovery and no evidence of recurrence during follow-up. She remains under joint medical oncology and gastroenterology follow-up, with serial imaging and endoscopic monitoring. This case underscores the importance of regular endoscopic surveillance in patients with PJS, even in the absence of a confirmed genetic mutation, given the persistent risk of malignancy. It also emphasizes that neoplastic transformation may occur at early ages and within seemingly benign lesions, reinforcing the value of a multidisciplinary clinical evaluation and a proactive approach to surveillance in these patients.

Instituciones: Universidad de San Martín de Porres