Jejunal Adenomatous Polyp Presenting as Intussusception in Peutz-Jeghers Syndrome: A Unique Case with VHL Mutation Carrier Status

The case of a jejunal adenomatous polyp presenting as intussusception in a patient with Peutz-Jeghers syndrome (PJS) and a von Hippel-Lindau (VHL) mutation was reported in a 2026 study published in *Cureus*, highlighting the rare coexistence of two inherited genetic disorders and their complex clinical manifestations. The report, authored by a team of gastroenterologists and geneticists, describes a 34-year-old individual with a known history of PJS who presented with acute abdominal pain and gastrointestinal bleeding, leading to the diagnosis of intussusception—a condition where part of the intestine folds into an adjacent segment, causing obstruction.

Diagnostic imaging, including computed tomography (CT) scans, revealed a mass in the jejunum, the middle section of the small intestine, which was confirmed via endoscopy and biopsy to be an adenomatous polyp. The patient underwent surgical resection of the affected jejunal segment, with postoperative pathology confirming the polyp’s adenomatous nature. Genetic testing identified a VHL mutation, marking the first documented case of a patient with both PJS and VHL mutations presenting with this specific gastrointestinal complication.

Peutz-Jeghers syndrome is a rare autosomal dominant disorder caused by mutations in the *STK11* gene, characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. These polyps carry a significant risk of malignant transformation, necessitating regular endoscopic surveillance. Von Hippel-Lindau disease, caused by mutations in the *VHL* gene, is associated with the development of benign and malignant tumors in multiple organs, including the kidneys, brain, and retina. While both conditions are well-established in medical literature, their coexistence in a single patient is exceptionally rare, with only a handful of cases reported in the scientific literature.

The study underscores the importance of genetic counseling and multidisciplinary care for patients with overlapping hereditary conditions. The patient’s VHL mutation was identified through targeted genetic testing, which was initiated after the discovery of the jejunal polyp. Researchers note that the presence of both mutations may complicate clinical management, as the risk profiles for malignancy and tumor progression differ between the two syndromes. For instance, while PJS polyps are primarily monitored for gastrointestinal cancer, VHL-related tumors require surveillance for renal cell carcinoma and central nervous system hemangioblastomas.

Clinical implications of this case include the need for heightened awareness of atypical presentations in patients with known genetic syndromes. The report emphasizes that intussusception in individuals with PJS is typically attributed to hamartomatous polyps, but the presence of an adenomatous polyp in this case deviates from the typical pathology. Adenomatous polyps, which are precursors to colorectal cancer, are less commonly associated with PJS, which predominantly involves hamartomatous lesions. This distinction is critical for determining surveillance intervals and therapeutic interventions.

The study also highlights the role of advanced imaging and histopathological analysis in differentiating between polyp types. While CT scans provided initial diagnostic clues, endoscopic biopsy was essential for confirming the adenomatous nature of the lesion. Researchers caution that misclassification of polyps could lead to underestimating cancer risk, particularly in patients with overlapping genetic conditions. The patient’s postoperative recovery was uneventful, but long-term follow-up remains necessary to monitor for recurrence or the development of VHL-related tumors.

According to the *Cureus* study, the case contributes to the limited body of evidence on the interaction between PJS and VHL mutations. While no direct genetic link has been