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.

Unique case of sporadic multiple gastro intestinal stromal tumour

MARINO, ELISABETTA;Rebonato, Alberto;DONINI, Annibale
2015

Abstract

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.
2015
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11391/1339508
Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 3
  • ???jsp.display-item.citation.isi??? 5
social impact