Abstract
BackgroundTuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria. These criteria do not include gastrointestinal tumors.Case presentationWe report a 45-year-old patient with a clinical and molecular diagnosis of TSC and a family history of cancer, presenting two rare associated findings: gastrointestinal polyposis and pancreatic neuroendocrine tumor. This patient was subjected to a genetic test with 80 cancer predisposing genes. The genetic panel revealed the presence of a large pathogenic deletion in the TSC2 gene, covering exons 2 to 16 and including the initiation codon. No changes were identified in the colorectal cancer and colorectal polyposis genes.Discussion and conclusionsWe describe a case of TSC that presented tumors of the gastro intestinal tract that are commonly unrelated to the disease. The patient described here emphasizes the importance of considering polyposis of the gastrointestinal tract and low grade neuroendocrine tumor as part of the TSC syndromic phenotype.
Highlights
Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has wellestablished clinical diagnostic criteria
The patient described here emphasizes the importance of considering polyposis of the gastrointestinal tract and low grade neuroendocrine tumor as part of the TSC syndromic phenotype
TSC is an autosomal dominant disease associated with cancer predisposition and multisystemic involvement mainly due to hyperactivation of the mTOR pathway, secondary to loss of function mutations in TSC1 and TSC2 [7]
Summary
TSC is an autosomal dominant disease associated with cancer predisposition and multisystemic involvement mainly due to hyperactivation of the mTOR pathway, secondary to loss of function mutations in TSC1 and TSC2 [7]. We describe a patient fulfilling criteria for the clinical diagnosis of TSC, such as cortical tubers, facial angiofibroma and renal angiomyolipoma (Table 1 and Fig. 1a and b) carrying a previously described large TSC2 rearrangement with two uncommon clinical manifestations of the disease: gastrointestinal adenomatous polyposis and a metastatic pancreatic neuroendocrine tumor. Case report: 31 yo male with TSC, multiple congenital subependymal nodules, bilateral cortical tubers, seizures and a malignant (metastatic) pancreatic neuroendocrine tumor. Recent studies have shown that most TSC patients with Pancreatic NETs have a germline pathogenic variant in TSC2 gene, as observed in our case. The patient described here, with confirmed molecular diagnosis of TSC underscores the importance of considering GI tract polyposis and NETs as part of the syndromic phenotype
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