Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the
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CASE REPORT
Open Access
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature Larissa Brussa Reis1,2†, Daniele Konzen3,4†, Cristina Brinckmann Oliveira Netto5, Pedro Moacir Braghirolli Braghini6, Gabriel Prolla4 and Patricia Ashton-Prolla1,2,5*
Abstract Background: Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has wellestablished 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: Tuberous sclerosis complex, Adenomatous colonic, Rectal polyposis, Pancreatic neuroendocrine tumor, Case report
Background Tuberous Sclerosis Complex (TSC) is a genetic disorder with multiorgan involvement, a broad phenotype with inter and intra-familiar variability and well-established clinical diagnostic criteria (Table 1) [1–4]. The incidence of TSC is approximately 1 in 6000–10,000 live births, and in Europe its prevalence has been estimated to be * Correspondence: [email protected] † Larissa Brussa Reis and Daniele Konzen contributed equally to this work. 1 Laboratório de Medicina Genômica - Centro de Pesquisa Experimental Hospital de Clinicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil 2 Programa de Pós-graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil Full list of author information is available at the end of the article
8.8/100,000 [5]. Germline pathogenic variants in TSC1 and TSC2 are identified in 75–90% of patients with the clinical diagnosis and at least 60% of TSC patients do not have a family history of the disease and are considered sporadic [6]. In this report, we describe a patient with the clinical and molecular diagnosis of TSC presenting with two rare associated findings: gastrointestinal polyposis and a pancreatic neuroendocrine tumor. A review of the literature on the subject is provided.
Case presentation The patient, a 45-year-old male, was referred for genetic assessment due to clinical findings suggestive of
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