Pancreatic neuroendocrine tumor in a 27-year-old patient with Cornelia de Lange syndrome: a case report

Background: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that can result in developmental abnormalities of multiple organs with varying severity. In rare cases, patients with CdLS have been reported to develop malignant tumors. Pancreatic neuroendocrine tumors (PNETs) represent a heterogeneous group of tumors, and some of these are associated with syndromes. Case Description: A 27-year-old female with CdLS presented with epigastric pain and underwent diagnostic imaging via computed tomography (CT) and endoscopic ultrasound (US). Imaging demonstrated a pancreatic head mass, which was subsequently biopsied and confirmed to be a PNET. The patient underwent an uneventful pancreaticoduodenectomy. Histopathological examination revealed a 3.0 cm pancreatic mass involving the duodenum with local nodal involvement. At the 90-day follow-up, the patient was recovering well with no postoperative diabetes or pancreatic insufficiency. She was recommended routine imaging surveillance. In rare cases, patients with CdLS can develop tumors, possibly unrelated to the syndrome but of unclear etiology. Conclusions: Herein, we report the first case of a patient with CdLS developing a PNET. While evidence is limited, this report in conjunction with prior reports suggest that patients with CdLS might be at an increased risk of developing certain malignant tumors.