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Gastrointestinal stromal tumors (GISTs) arising in uncommon locations: clinicopathologic features and risk assessment of esophageal, colonic, and appendiceal GISTs

Abstract

Risk stratification of gastrointestinal stromal tumors (GISTs) is based on experience with tumors of the stomach, small bowel, and rectum, which are far more common than GISTs of other sites. In this study from 47 institutions, we analyzed GISTs of the esophagus (n = 102), colon (n = 136), and appendix (n = 27) for their size, mitotic rate, morphology, and outcome to determine which criteria predict their behavior. Esophageal GISTs were small (median: 2.5 cm) with spindle cell morphology and a low mitotic rate (mean: 3.6/5 mm2). Twelve (12%) tumors progressed, including 11 with a mitotic rate >5/5 mm2 and one large (6.8 cm) GIST with a mitotic rate of 2/5 mm2. Colonic GISTs were smaller (median: 1.4 cm) and presented with abdominal pain or bleeding in 29% of cases. Most (92%) were composed of spindle cells with a mean mitotic rate of 4.6/5 mm2. Sixteen (12%) tumors progressed: 14 had mitotic rates >5/5 mm2, and two were >5.0 cm with a mitotic rate <5/5 mm2. All but one appendiceal GIST measured <2.0 cm. These tumors were composed of spindle cells with low mitotic rates (<5/5 mm2), and none progressed. Our results suggest that progression risk among esophageal and colonic GISTs is associated with increased mitotic activity (>5/5 mm2) and size >5.0 cm. These findings support the use of size and mitotic rate for prognostication of GISTs in these locations, similar to tumors of the stomach, small bowel, and rectum.

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Fig. 1: Histology of esophageal GISTs.
Fig. 2: Histology of colonic GISTs.
Fig. 3: Histology of appendiceal GISTs.
Fig. 4: Stratified patient outcomes for esophageal and colonic GISTs.

Data availability

The datasets used and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

We thank Dr. William Jeck of Duke University for his contribution to this study. The author(s) received no specific funding for this work.

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R.S.G. conceived the study. S.H., L.A., and R.S.G. designed the study and analyzed data. J.M.M.C. provided statistical analysis and expert opinion. S.H. drafted the manuscript. All members of the Rare GIST Risk Stratification Group provided data, reviewed the manuscript, and approved the final draft.

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Correspondence to Raul S. Gonzalez.

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The authors declare no competing interests.

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The components of the study conducted at each institution were approved by their respective institutional review boards.

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Hu, S., Alpert, L., Cates, J.M.M. et al. Gastrointestinal stromal tumors (GISTs) arising in uncommon locations: clinicopathologic features and risk assessment of esophageal, colonic, and appendiceal GISTs. Mod Pathol (2021). https://doi.org/10.1038/s41379-021-00949-w

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