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  • Review Article
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A guide for the diagnosis and management of gastrointestinal stromal cell tumors

Nature Reviews Gastroenterology & Hepatology volume 6, pages 363–371 (2009)Cite this article

Abstract

Gastrointestinal stromal cell tumors (GISTs) are the most common mesenchymal neoplasm of the gastrointestinal tract and are frequently detected on routine endoscopy. Although only ∼10–30% of GISTs are clinically malignant, all may have some degree of malignant potential. Preoperative determination of malignancy risk can be estimated from tumor size and location, but reliable histopathologic criteria are not currently available. Given such biological uncertainty, accurate diagnosis is essential to differentiate these lesions from other truly benign, subepithelial tumors. Endoscopic ultrasound-guided fine-needle aspiration has emerged as an important procedure to secure a tissue diagnosis of a GIST. When encountering GISTs, gastroenterologists are faced with challenging management decisions, especially in the face of small, incidentally discovered lesions. The majority of localized GISTs are managed via surgical resection, although a select few may be observed using serial endoscopic ultrasound examinations. This Review provides a general overview of GISTs, with an emphasis on their endoscopic diagnosis, the management of localized disease, and the management of incidentally discovered GISTs.

Key Points

  • Gastrointestinal stromal cell tumors are the most common mesenchymal neoplasm of the gastrointestinal tract and are frequently discovered on routine endoscopy

  • Approximately 10–30% of gastrointestinal stromal cell tumors are clinically malignant, but all such tumors may have some malignant potential

  • Preoperative malignancy risk can be estimated from tumor size and location, but a set of reliable histologic criteria do not currently exist

  • The diagnosis of a gastrointestinal stromal cell tumor can be suggested by esophagogastroduodenoscopy or endoscopic ultrasonography, but definitive diagnosis requires tissue acquisition via endoscopic ultrasound-guided fine-needle aspiration

  • Complete surgical resection is the mainstay of treatment for localized disease, although, for a small subset of patients, surveillance via serial endoscopic ultrasound examinations can be undertaken

  • Imatinib therapy is the treatment of choice for locally advanced and metastatic disease, and can also be used as neoadjuvant therapy before surgical resection

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Figure 1: Esophagogastroduodenoscopy image of a gastrointestinal stromal cell tumor showing a mass with smooth, intact, normal overlying mucosa.
Figure 2: Endoscopic ultrasonography images of gastrointestinal stromal cell tumors.
Figure 3: Cytology smear showing spindle cells from a tissue sample collected by endoscopic ultrasonography-guided fine-needle aspiration.
Figure 4: Cell block specimen showing diffuse brown staining for c-kit immunohistochemistry from a tissue sample collected by endoscopic ultrasonography-guided fine-needle aspiration.
Figure 5: Proposed algorithm for the management of localized gastrointestinal stromal cell tumors.

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  1. Beth Israel Deaconess Medical Center, Boston, MA, USA

    Paul S. Sepe

  2. Massachusetts General Hospital, Boston, MA, USA

    William R. Brugge

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W. R. Brugge declares associations with the following companies: Pentax Corporation, as recipient of grant/research support, and Boston Scientific, as consultant. P. S. Sepe declares no competing interests.

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Sepe, P., Brugge, W. A guide for the diagnosis and management of gastrointestinal stromal cell tumors. Nat Rev Gastroenterol Hepatol 6, 363–371 (2009). https://doi.org/10.1038/nrgastro.2009.43

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