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Unique case of sporadic multiple gastro intestinal stromal tumour

INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and they derived from transformed neoplastic precursors of Cajal’s interstitial cell (ICC). PRESENTATION OF THE CASE: We are presenting a sporadic and exemplary case of 42 multi...

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Autores principales: Graziosi, Luigina, Marino, Elisabetta, Ludovini, Vienna, Rebonato, Alberto, Angelis, Verena De, Donini, Annibale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392183/
https://www.ncbi.nlm.nih.gov/pubmed/25746950
http://dx.doi.org/10.1016/j.ijscr.2015.01.025
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author Graziosi, Luigina
Marino, Elisabetta
Ludovini, Vienna
Rebonato, Alberto
Angelis, Verena De
Donini, Annibale
author_facet Graziosi, Luigina
Marino, Elisabetta
Ludovini, Vienna
Rebonato, Alberto
Angelis, Verena De
Donini, Annibale
author_sort Graziosi, Luigina
collection PubMed
description INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and they derived from transformed neoplastic precursors of Cajal’s interstitial cell (ICC). PRESENTATION OF THE CASE: We are presenting a sporadic and exemplary case of 42 multiple GISTs in a young female patient. Our patient showed anemia for the gastric GIST bleeding and only after other tumors were instrumentally and intra-surgery discovered. The patient showed genetic mutation V559A/1676 T > C of the juxtamembrane domain of the exon 11 causing the replacement of Valine with Alanine in the 559 codon. DISCUSSION: GISTS estimated annual incidence is 12–14 per million. Multiple GISTs associated with familiarity or hereditary syndromes are described only in few case reports and sporadic mGISTs have not been studied yet. Literature review has been done. CONCLUSION: We are presenting a sporadic and exemplary case of 42 multiple GISTs in a young female patient localized trough out all the gastrointestinal tract. This is the only case of sporadic multiple GISTs reported in literature.
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spelling pubmed-43921832015-04-13 Unique case of sporadic multiple gastro intestinal stromal tumour Graziosi, Luigina Marino, Elisabetta Ludovini, Vienna Rebonato, Alberto Angelis, Verena De Donini, Annibale Int J Surg Case Rep Case Report INTRODUCTION: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and they derived from transformed neoplastic precursors of Cajal’s interstitial cell (ICC). PRESENTATION OF THE CASE: We are presenting a sporadic and exemplary case of 42 multiple GISTs in a young female patient. Our patient showed anemia for the gastric GIST bleeding and only after other tumors were instrumentally and intra-surgery discovered. The patient showed genetic mutation V559A/1676 T > C of the juxtamembrane domain of the exon 11 causing the replacement of Valine with Alanine in the 559 codon. DISCUSSION: GISTS estimated annual incidence is 12–14 per million. Multiple GISTs associated with familiarity or hereditary syndromes are described only in few case reports and sporadic mGISTs have not been studied yet. Literature review has been done. CONCLUSION: We are presenting a sporadic and exemplary case of 42 multiple GISTs in a young female patient localized trough out all the gastrointestinal tract. This is the only case of sporadic multiple GISTs reported in literature. Elsevier 2015-01-15 /pmc/articles/PMC4392183/ /pubmed/25746950 http://dx.doi.org/10.1016/j.ijscr.2015.01.025 Text en © 2015 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Graziosi, Luigina
Marino, Elisabetta
Ludovini, Vienna
Rebonato, Alberto
Angelis, Verena De
Donini, Annibale
Unique case of sporadic multiple gastro intestinal stromal tumour
title Unique case of sporadic multiple gastro intestinal stromal tumour
title_full Unique case of sporadic multiple gastro intestinal stromal tumour
title_fullStr Unique case of sporadic multiple gastro intestinal stromal tumour
title_full_unstemmed Unique case of sporadic multiple gastro intestinal stromal tumour
title_short Unique case of sporadic multiple gastro intestinal stromal tumour
title_sort unique case of sporadic multiple gastro intestinal stromal tumour
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392183/
https://www.ncbi.nlm.nih.gov/pubmed/25746950
http://dx.doi.org/10.1016/j.ijscr.2015.01.025
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