2020
DOI: 10.1136/bcr-2019-229839
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Unusual presentation of a large GIST in an extraintestinal site: a challenging diagnosis dilemma

Abstract: Gastrointestinal stromal tumour (GIST) is a recent recognised tumour entity. In the past, those tumours were classified as leiomyomas, leiomyosarcomas and leiomyoblastomas, but it is now evident that GIST is a separate tumour entity and is the most common sarcoma of the gastrointestinal tract especially with advances in immunohistochemical staining techniques and improvements in microscopic structural imaging. We present a case of GIST of unusual location and presentation pattern, with an overview over current… Show more

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Cited by 18 publications
(30 citation statements)
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“…Over 90% of GISTs show overexpression of the receptor tyrosine kinase KIT (CD117) by immunohistochemistry (IHC), and about 5% are CD117-negative. GIST is also usually associated with CD34 expression in 70% of cases [ 10 ]. Their malignant potential is evaluated using several parameters that include size, location, invasion of adjacent organs, mucosal invasion, cellular architecture, degree of cellularity, mitotic count, nuclear pleomorphism, necrosis, and proliferation [ 1 ].…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Over 90% of GISTs show overexpression of the receptor tyrosine kinase KIT (CD117) by immunohistochemistry (IHC), and about 5% are CD117-negative. GIST is also usually associated with CD34 expression in 70% of cases [ 10 ]. Their malignant potential is evaluated using several parameters that include size, location, invasion of adjacent organs, mucosal invasion, cellular architecture, degree of cellularity, mitotic count, nuclear pleomorphism, necrosis, and proliferation [ 1 ].…”
Section: Discussionmentioning
confidence: 99%
“…There have been reports of EGISTs occurring in the abdominal wall, mesentery and retroperitoneum, lesser omentum, pancreas, and scrotum [ 9 ]. However, the precise incidence and tumor behavior of EGISTs is not clearly understood [ 10 ]. In this report, we present a case of EGIST that originated in the anterior perirectal space, which is an extremely rare location, and we describe the endoscopic approach that was employed to biopsy the tumor.…”
Section: Introductionmentioning
confidence: 99%
“…According to our literature review, this is the first case presentation of a GIST perforating through a diverticular structure within the terminal ileum, producing the unique symptoms observed in the patient. GISTs in other diverticular structures, such as Meckel's diverticulum, have been reported several times [ 8 , 9 ]. The mechanisms surrounding perforation of the GI wall are not fully understood.…”
Section: Discussionmentioning
confidence: 99%
“…About 97% of GISTs are sporadic tumors, and about 20% of affected patients present with overt metastasis at diagnosis [ 6 , 7 ]. GISTs have been reported in unusual abdominal locations including the Meckel's diverticulum [ 8 , 9 ]. GI perforation at the site of the GIST is rare but has been reported [ 9 , 10 ].…”
Section: Introductionmentioning
confidence: 99%
“…Extragastrointestinal stromal tumours (EGISTs) are GISTs that are found outside the digestive tract, and only a few cases have been reported [8][9][10][11]. Approximately 95% of GISTs overexpress KIT (CD117), the immunohistochemistry signature of GISTs which is a receptor protein tyrosine kinase.…”
Section: Introductionmentioning
confidence: 99%