Metastatic Non-Functional Pancreatic Neuroendocrine Tumor in a Patient With a Pathogenic TSC1 Mutation

Abstract Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder caused by mutations in two tumor suppressor genes (TSC1 and TSC2) encoding proteins critical cell growth proliferation associated with increased risk for benign malignant tumors. Pancreatic neuroendocrine tumors (PNET) occur 1.5-1.8% of patients TSC. They have been primarily reported TSC2, only a few cases the context TSC1. We describe non-functional metastatic PNET patient known pathogenic TSC1 mutation. Case Description: A 49-year old female past medical history bipolar disease, family daughter, pathologic mutation (c.2356C>T), previous renal carcinoma (RCC) was evaluated pancreatic lesion likely liver metastases. Two years prior to presentation, 10 mm initially noted on CT scan during mass evaluation. Nephrectomy confirmed RCC. later, surveillance imaging revealed new lesions liver, had enlarged 1.3 cm. She denied symptoms suggestive functional PNET, her physical exam unremarkable. Gallium-68 dotatate (GA-68) PET/CT demonstrated avid both tail left hepatic lobe. Biopsy 3 cm high-grade (mib-1 index 15%) favoring primary PNET. Immunohistochemical stains were positive chromogranin A, synaptophysin, EMA, PAX 8, CK 20, villin. Stains CA 19-9 7 negative. Biochemical testing suggested that non-functional. Specifically, serum concentrations gastrin, somatostatin, glucagon, glucose, C-peptide, proinsulin, polypeptide, vascular endothelial factor within normal limits. The underwent distal pancreatectomy resection mass. Pathological specimens diagnosis remained asymptomatic monitored regularly MRI GA-68 scans without further evidence disease 1.5 years. Conclusions: conclude this harboring c.2356C>T developed component References: 1.Lodish, M. B., & Stratakis, C. A. (2010). Endocrine neurofibromatosis type 1, tuberous sclerosis, related syndromes. Best practice research Clinical endocrinology metabolism, 24(3), 439-449.2.Dworakowska, D., Grossman, B. (2009). Are feature sclerosis? systematic review. Endocrine-Related Cancer, 16(1), 45.