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Tytuł pozycji:

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

Tytuł:
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature.
Autorzy:
Reis LB; Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.
Konzen D; Hospital Mãe de Deus, Porto Alegre, Rio Grande do Sul, Brazil.; Hospital São Lucas, Escola de Medicina da Pontifícia Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Rio Grande do Sul, Brazil.
Netto CBO; Serviço de Genética Médica, Hospital de Clinicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, CEP: 90035-903, Brazil.
Braghini PMB; Hospital São Vicente de Paulo, Passo Fundo, Rio Grande do Sul, Brazil.
Prolla G; Hospital São Lucas, Escola de Medicina da Pontifícia Católica do Rio Grande do Sul (PUCRS), Porto Alegre, Rio Grande do Sul, Brazil.
Ashton-Prolla P; Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil. .; Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil. .; Serviço de Genética Médica, Hospital de Clinicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, CEP: 90035-903, Brazil. .
Źródło:
BMC gastroenterology [BMC Gastroenterol] 2020 Nov 23; Vol. 20 (1), pp. 394. Date of Electronic Publication: 2020 Nov 23.
Typ publikacji:
Case Reports; Journal Article; Review
Język:
English
Imprint Name(s):
Original Publication: London : BioMed Central, [2001-
MeSH Terms:
Angiomyolipoma*
Kidney Neoplasms*
Tuberous Sclerosis*/complications
Tuberous Sclerosis*/genetics
Female ; Gastrointestinal Tract ; Humans ; Middle Aged ; Mutation ; Tuberous Sclerosis Complex 2 Protein/genetics
References:
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Contributed Indexing:
Keywords: Adenomatous colonic; Case report; Pancreatic neuroendocrine tumor; Rectal polyposis; Tuberous sclerosis complex
Substance Nomenclature:
0 (Tuberous Sclerosis Complex 2 Protein)
Entry Date(s):
Date Created: 20201123 Date Completed: 20210510 Latest Revision: 20210510
Update Code:
20240105
PubMed Central ID:
PMC7682061
DOI:
10.1186/s12876-020-01481-y
PMID:
33225890
Czasopismo naukowe
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.
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