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Home > E. Pathology by systems > Digestive system > gastrointestinal stromal tumor

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gastrointestinal stromal tumor

Gatsric GIST Gastric GIST High grade GIST High grade GIST High grade GIST High grade GIST High grade GIST Gastric GIST

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal tract.

GIST is typically characterized by immunohistochemical expression of c-kit. The interstitial cell of Cajal also expresses c-kit and CD34. Therefore, GIST is considered to show differentiation along the lines of interstitial cell of Cajal.

In the earlier literature, GIST was classified as a smooth muscle tumor variously termed leiomyoma, epithelioid leiomyoma, leiomyoblastoma, leiomyosarcoma, epithelioid leiomyosarcoma, or malignant leiomyoblastoma.

GIST of the digestive tract is now considered to be the distinctive entity, distinguished from leiomyoma, leiomyosarcoma, schwannoma, and other mesenchymal tumors.

Etiology

- sporadic GISTs

- NF-associated GISTs

Predisposition

- neurofibromatosis type 1 (NF1) (16096406)
- Carney triad (15712189)

Differential diagnosis (11215292)

- digestive sarcomas

Prognosis

- local recurrence
- metastasis

Cytogenetics

- ploidy anomalies

  • hypo- to near-diploid
  • near-triploid
  • hypotetraploid

- loss of chromosome 14
- loss of 22q: 22q13, (15580284)
- loss of both chromosomes 14 and 22
- loss of 9p21 (54%) (p16INK4a and p14ARF gene loss) (15929122)
- loss of 1p
- loss of 15
- loss of 3p
- loss of 13q
- loss of 10q
- loss of 19

CGH (14730211, 9406576, 16982739, 17330260)

- CGH losses

- CGH gains

LOH study

- allelic losses (loss of heterozygosity)

- gene overpexpression and amplification (15864317)

Molecular biology

- KIT or PDGFRA mutations (90%)

  • KIT activating mutations (70%)
  • PDGFRA activating mutations (20%)

- KIT overexpression (95%)
- rare KIT amplification (15869870)

Videos

- Gleevec

See also

- STI-571 (imatinib mesylate, Gleevec)
- anti-tyrosine kinase drug

References

- Assamaki R, Sarlomo-Rikala M, Lopez-Guerrero JA, Lasota J, Andersson LC, Llombart-Bosch A, Miettinen M, Knuutila S. Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors. Genes Chromosomes Cancer. 2007 Jun;46(6):564-76. PMID: 17330260

Keywords