Colorectal gastrointestinal stromal tumor

Tech Coloproctol. 2010 Nov:14 Suppl 1:S91-5. doi: 10.1007/s10151-010-0631-y.

Abstract

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm arising in the digestive tract, with an estimated prevalence of 15-20 per 1,000,000. GISTs are related to the interstitial cells of Cajal and are characterized by constitutive over-expression of the transmembrane tyrosine kinase receptor KIT. This is produced by a patognomonic mutation of the proto-oncogene c-kit that occurs in up to 90% of cases. Exon 11 is affected most frequently; exons 9 and 13 are less commonly involved. One-third of GISTs lacking KIT mutations exhibits alternative activating mutations in the PDGFRα gene. Colorectal GISTs represent about 5-10% of the cases, mainly located in the rectum that is the third common site. Benign GISTs are more common, but many tumors are of uncertain malignant potential; tumor size and rate of mitosis are still the most reliable criteria for assessing the risk of an aggressive behavior. Surgery is the first-line treatment for resectable non-metastatic colorectal GIST. Standard oncologic resection is inappropriate because skip metastases and lymphatic spread are rarely reported. Segmental colectomy with negative margins is recommended, and local excision is oncologically adequate in highly selected rectal tumors. Radical surgery alone is not always curative especially in high-risk GISTs, and half of patients develops local recurrences or distant metastases after R0 operation. Medical therapeutic strategies have rapidly evolved after the introduction of targeted molecular therapy. Efficacy and safety of imatinib mesylate was first demonstrated in patients with metastatic and unresectable disease. Adjuvant and neoadjuvant use of imatinib are promising therapeutic options to improve the outcome of surgery to downstage unresectable lesions and to allow less extensive resections.

MeSH terms

  • Colorectal Neoplasms* / genetics
  • Colorectal Neoplasms* / pathology
  • Colorectal Neoplasms* / surgery
  • Colorectal Neoplasms* / therapy
  • Combined Modality Therapy
  • Gastrointestinal Stromal Tumors* / genetics
  • Gastrointestinal Stromal Tumors* / pathology
  • Gastrointestinal Stromal Tumors* / surgery
  • Gastrointestinal Stromal Tumors* / therapy
  • Humans
  • Proto-Oncogene Mas