Clinical–alimentary tractGastrointestinal Stromal Tumors With KIT Exon 11 Deletions Are Associated With Poor Prognosis
Section snippets
Patient Series
All potential cases of GIST diagnosed and treated from 1983 through 2000 within Västra Götaland, a province in western Sweden with a population of 1.3–1.6 million, were retrieved and analyzed.29 Criteria for the diagnosis of GIST included tumor site (in or adjacent to the gastrointestinal tract, mesentery, omentum, or retroperitoneum), spindled and/or epithelioid morphology, and immunoreactivity for CD117. A total of 259 patients with clinically detected primary GIST were identified. Of these,
Patient Series, Tumor Characteristics, and Mutational Status
Data from 177 patients (1990–2000) regarding mutation status, tumor site and size, mitotic rate (per 50 high-power fields [hpf]), proliferative index (Ki67 max %), risk group according to the consensus report,34 GIST risk score (tumor size in cm) + proliferative index as Ki67 max %,29 recurrent tumor disease (local recurrence and/or metastasis), and survival are summarized in Table 1.
Mutation Analysis and Phenotypic and Prognostic Correlations
In the older material (1983–1989), a low frequency of mutations was detected, overall mutation rate 37.5% (WT,
Discussion
Numerous studies of GIST have demonstrated primarily gain-of-function mutations in the receptor tyrosine kinase genes KIT and rare mutations in PDGFRA. The vast majority of KIT gene mutations reportedly involve exon 11.4, 23, 35 However, studies regarding the frequency of exon 11 KIT mutations in GIST vary from 20% to 92%.35 This large variation could be attributed to referral center bias, analysis of fresh-frozen vs formalin-fixed and paraffin-embedded tissues, and methodologic aspects for
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Cited by (210)
Comparing clinical characteristics and surgical outcomes of gastric and small bowel GIST: A single center experiences
2023, Asian Journal of SurgeryGastrointestinal Mesenchymal Tumors
2022, Gastrointestinal and Liver Pathology, Third EditionMutation analysis of gastrointestinal stromal tumors using RNA obtained via endoscopic ultrasound-guided fine-needle aspiration
2020, Translational OncologyCitation Excerpt :Finally, an in vitro experiment using GIST-T1 cell line indicated that the minimum number of cells required to amplify KIT gene from RNA was one tenth of that required to amplify it from DNA. Mutation analysis is useful not only for diagnosing GIST but also for predicting the effects of molecular targeting medicines and the risk of recurrence after surgery [4–10,19,20]. However, such analyses have been exclusively performed using DNA extracted from surgically resected samples.
Supported by the Swedish Cancer Society, Sahlgrenska Academy (the government ALF agreement), Inga-Britt and Arne Lundberg Research Foundation, Swedish Medical Research Foundation, Johan Jansson Foundation for Cancer Research, Assar Gabrielsson Research Foundation, Göteborg Medical Society, Capio Research Foundation, Björnsson Research Foundation, King Gustav V Jubilee Clinical Cancer Research Foundation, and Sahlgrenska University Hospital Research Foundation.
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J.A. and P.B. contributed equally to this paper.