Gastrointestinal stromal tumors: report of an audit and review of the literature

Abstract

Gastrointestinal stromal tumors (GISTs), tumors characterized by c-KIT mutations, are the most frequent mesenchymal tumors of the digestive tract. The stomach is the most commonly involved site. Localization, size and mitotic rate are reliable predictors of survival and the two milestones of GISTs treatment are surgery and imatinib. This article is aimed to report the data of an audit, carried out on the morphological and clinical aspects of the disease and to review the present knowledge on GISTs. A total of 172 patients with GISTs (M : F=1 : 1; mean age 65 years) were recruited. The stomach was the most frequently involved site. In 50% of the cases the tumor was smaller than 5 cm, whereas major symptoms were observed in 43% of the cases. Predictors of progressive disease were present only in a small percentage of cases but the disease was in the metastatic phase in over 25% of the cases at diagnosis. Familial aggregation was rare but a consistent share of the patients (21%) had other synchronous or metachronous cancers. The most frequent mutations were in-frame deletions and point mutations of c-KIT exon 11. This report confirms in part the available data on GIST in a consecutive series of patients recruited in Italy and shows that only large collaborative multicenter studies provide data sound enough to enable making reasonable clinical and therapeutic choices, and suggests that, as a measure of secondary prevention, a diagnostic definition should be obtained in all submucosal lesions of the GI tract and that GIST patients should be screened for second tumors.

Synchronous Tumors: Adenosquamous Carcinoma of Pancreas and GIST of Stomach

“…Most GISTs in their series were benign or low-risk, earning them the name innocent bystanders, as these lesions were detected during evaluation for a known cancer, either during staging, intra-operatively, or during follow-up [1]. Biasco et al analyzed the morphological and clinical aspects of GISTs in a series of 172 consecutive single-institution Italian patients [2]. In more than 50% of cases, the tumor was smaller than 5 cm.…”

Prognostic Factors for Survival post Surgery for Patients with Gastrointestinal Stromal Tumors

“…They arise from of the precursor cells of interstitial cell of Cajal and express KIT tyrosine kinase [3]. Different mutation types have been described in GISTs such as c-KIT (the most frequent) and PDGFRA genes [1,4,5,14,15,16]. The physiopathology and treatment of GISTs is different from epithelial neoplasms in the alimentary tract.…”

“…The stomach is the most frequent location of GIST (60–70%), with other locations being: small intestine (25–35%), rectum (5%), colon (1%), oesophagus (1–3%). In rare instances, GISTs can occur in the mesentery, greater omentum, gallbladder, pancreas, retroperitoneal space and uterus [5,7,8,9]. These neoplasms are called extragastroinestinal stromal tumors (EGIST) [10,11].…”

“…Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms located in the alimentary tract (from the oesophagus to the anus), although they comprise only 0.1–0.3% of all gastrointestinal neoplasms [1,2,3,4,5,6]. The stomach is the most frequent location of GIST (60–70%), with other locations being: small intestine (25–35%), rectum (5%), colon (1%), oesophagus (1–3%).…”

A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours

“…The KIT exon 11 mutations are quite heterogeneous, encompassing mainly in-frame deletions of variable sizes, basic amino acid substitutions, the duplications in the 3 0 part of the exon, or more complex deletions-insertions [13][14][15]. Within KIT exons 13 and 17, mainly point mutations have been described [16,17].…”