Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature

Abstract

Background: Tuberous 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 presentation: We 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 conclusions: We 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.

Keywords: Adenomatous colonic; Case report; Pancreatic neuroendocrine tumor; Rectal polyposis; Tuberous sclerosis complex.

Fig. 1

Histologic and immunohistochemistry analyses of the renal and hepatic lesions identified in the proband. a and b: Kidney biopsy: round cell neoplasia of the kidney (renal angiomyolipoma). a) HE: haematoxylin and eosin stain, b) Melan A: melanoma antigen. c, d, e and f: Liver biopsy (low grade endocrine neoplasia). c) HE: haematoxylin and eosin stain, d) CGA: chromogranin A antigen, e) HE: haematoxylin and eosin stain, f) Sinapto: synaptophysin (HE and IHC, 200x)

Fig. 2

Tubular adenoma and Fundic gland polyp (HE). Panel a: tubular adenomas. Panel b: fundic gland polyps (HE, 200x)