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.
journal_name
BMC Gastroenteroljournal_title
BMC gastroenterologyauthors
Reis LB,Konzen D,Netto CBO,Braghini PMB,Prolla G,Ashton-Prolla Pdoi
10.1186/s12876-020-01481-ysubject
Has Abstractpub_date
2020-11-23 00:00:00pages
394issue
1issn
1471-230Xpii
10.1186/s12876-020-01481-yjournal_volume
20pub_type
杂志文章abstract:BACKGROUND:Enhanced expression of MAdCAM-1 (mucosal addressin cell adhesion molecule-1) is associated with the onset and progression of inflammatory bowel disease. The clinical significance of elevated MAdCAM-1 expression is supported by studies showing that immunoneutralization of MAdCAM-1, or its ligands reduce infla...
journal_title:BMC gastroenterology
pub_type: 杂志文章
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更新日期:2003-02-20 00:00:00
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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doi:10.1186/s12876-015-0246-x
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pub_type: 杂志文章
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2011-07-16 00:00:00
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pub_type: 临床试验,杂志文章
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pub_type: 杂志文章,meta分析
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pub_type: 杂志文章,评审
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pub_type: 杂志文章,多中心研究,随机对照试验
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