Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex

To investigate the prevalence and management of pancreatic tumors in patients with tuberous sclerosis complex (TSC).

We performed a retrospective review of electronic medical records to identify pancreatic tumors in patients with TSC at a quaternary pediatric hospital (2005-2022). Patients with abdominal imaging were identified and clinical data were collected.

Among 267 patients with TSC and abdominal imaging, 13 pancreatic tumors were identified in 11 patients (4.1%) at a median age of 13 (range 8, 22) years. One patient presented with a large tumor with liver metastases at age 8, despite negative abdominal MRI 3 years prior. None of these tumors were functional based on clinical assessment and serum hormone levels. Of patients with pancreatic tumors, 5 out of 6 patients had an elevated serum chromogranin A level. Median tumor size was 1.5 (0.1, 4.6) cm at diagnosis and 3.2 (1.8, 4.8) cm at surgery. Four patients underwent resection: 3 distal pancreatectomies and one enucleation, all confirming pancreatic neuroendocrine tumors (pNET). After a median follow-up of 179 (10, 276) months, no patients developed new metastasis or tumors. No surgical patients had evidence of relapse or new pancreatic tumors at a median follow-up imaging of 35 (13, 75) months.

Pediatric patients with TSC appear to be at increased risk for pNETs compared to the general population. While most tumors remain stable, progression of disease can occur, supporting the need for further data to inform surveillance for early detection, identify risk factors, and establish criteria for surgical resection.

Retrospective cohort study.

Level III evidence.