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

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. We report a 45-year-old patient with a clinical and molecular diagnosis of TSC and a family history of cancer...

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Bibliographic Details
Published in:BMC gastroenterology 2020-11, Vol.20 (1), p.394, Article 394
Main Authors: Reis, Larissa Brussa, Konzen, Daniele, Netto, Cristina Brinckmann Oliveira, Braghini, Pedro Moacir Braghirolli, Prolla, Gabriel, Ashton-Prolla, Patricia
Format: Article
Language:English
Subjects:
Angiomyolipoma
Antigens
Cancer
Case Report
Case studies
Cell growth
Colorectal cancer
Colorectal carcinoma
Diagnosis
Exons
Family medical history
Female
Gastroenterology
Gastrointestinal Tract
Gastrointestinal tumors
Gene deletion
Genes
Genetic disorders
Genetic screening
Humans
Intestine
Kidney Neoplasms
Literature reviews
Middle Aged
Mutation
Neuroendocrine tumors
Pancreas
Patients
Phenotypes
Polyposis
Polyps
Proteins
TSC2 gene
Tuberous sclerosis
Tuberous Sclerosis - complications
Tuberous Sclerosis - genetics
Tuberous Sclerosis Complex 2 Protein - genetics
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Summary: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. 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. 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.
ISSN:1471-230X
1471-230X
DOI:10.1186/s12876-020-01481-y