Asset Details
Do you wish to reserve the book?
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
Do you wish to request the book?
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
2020
Overview
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.
We currently cannot retrieve any items related to this title. Kindly check back at a later time.