Onkologie. 2010:4(1):13-17

Pathological diagnostics of gastrointestinal stromal tumor

Ondřej Daum1, Radek Šíma2, Michal Michal1
1 Šiklův ústav patologie FN Plzeň, Univerzita Karlova v Praze, Lékařská fakulta v Plzni
2 Bioptická laboratoř s.r.o., Plzeň

Gastrointestinal stromal tumor is the most frequent mesenchymal tumor of the alimentary tract, currently being defined as a tumor

composed of spindle and/or epithelioid cells presumably differentiating towards interstitial cells of Cajal. The most common location of

gastrointestinal stromal tumor is stomach followed by other sites of gastrointestinal tract. Occasional sites of occurrence are mesenterium,

omentum, retroperitoneum, gallbladder, urinary bladder, pancreas and vagina. Light microscopic examination of slides stained with

haematoxylin and eosin is highly reliable in most cases. Immunohistochemical investigation relies on expression of KIT protein (CD117),

PDGFRA and/or DOG-1, as well as absence of markers of other differentiation lineages. Molecular genetic analysis of KIT and PDGFRA

genes is useful not only for differential diagnosis, but also for prediction of therapeutic response. Nevertheless, negative results do not

exclude histologically proven diagnosis. All gastrointestinal stromal tumors should be regarded as potentially malignant with risk of

aggressive behavior being determined on the basis of location, mitotic count, and the largest diameter of the tumor.

Keywords: gastrointestinal stromal tumor, GIST, KIT, PDGFRA, imatinib, sunitinib

Published: March 1, 2010  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Daum O, Šíma R, Michal M. Pathological diagnostics of gastrointestinal stromal tumor. Onkologie. 2010;4(1):13-17.
Download citation

References

  1. Daum O, Vaněček T, Šíma R, Michal M. Gastrointestinální stromální tumor: současný pohled. Klin Onkol 2006; 19: 203-211.
  2. Agaram NP, Wong GC, Guo T, et al. Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors. Genes Chromosomes Cancer 2008; 47: 853-859. Go to original source... Go to PubMed...
  3. Agaimy A, Terracciano LM, Dirnhofer S, et al. V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. J Clin Pathol 2009; 62: 613-616. Go to original source... Go to PubMed...
  4. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998; 279: 577-580. Go to original source... Go to PubMed...
  5. Rubin BP, Singer S, Tsao C, et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 2001; 61: 8118-8121.
  6. Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299: 708-710. Go to original source... Go to PubMed...
  7. Hirota S, Ohashi A, Nishida T, et al. Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology 2003; 125: 660-667. Go to original source... Go to PubMed...
  8. Miettinen M, Lasota J, Sobin LH. Gastrointestinal stromal tumors of the stomach in children and young adults: a clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases with long-term follow-up and review of the literature. Am J Surg Pathol 2005; 29: 1373-1381. Go to original source... Go to PubMed...
  9. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology 2008; 53: 245-266. Go to original source... Go to PubMed...
  10. Carney JA, Stratakis CA. Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation. Am J Surg Pathol 2008; 32: 1412-1420. Go to original source... Go to PubMed...
  11. Carney JA, Sheps SG, Go VL, Gordon H. The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma. N Engl J Med 1977; 296: 1517-1518. Go to original source... Go to PubMed...
  12. Zhang L, Smyrk TC, Young WF, Jr., Stratakis CA, Carney JA. Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. Am J Surg Pathol 2010; 34: 53-64. Go to original source... Go to PubMed...
  13. Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet 2002; 108: 132-139. Go to original source... Go to PubMed...
  14. Pasini B, McWhinney SR, Bei T, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 2007. Go to original source... Go to PubMed...
  15. Maertens O, Prenen H, Debiec-Rychter M, et al. Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet 2006; 15: 1015-1023. Go to original source... Go to PubMed...
  16. Kinkor Z, Daum O. Nádor ovaria jako komplikace diagnostiky extraintestinálního gastrointestinálního stromálního tumoru - dvě kazuistiky. Ceska Gynekol 2008; 73: 54-57.
  17. Schildhaus HU, Cavlar T, Binot E, Buttner R, Wardelmann E, Merkelbach-Bruse S. Inflammatory fibroid polyps harbour mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene. J Pathol 2008; 216: 176-182. Go to original source... Go to PubMed...
  18. Miettinen M, Sobin LH, Lasota J. Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 1765 cases with long-term follow-up. Am J Surg Pathol 2005; 29: 52-68. Go to original source... Go to PubMed...
  19. Miettinen M, Makhlouf H, Sobin LH, Lasota J. Gastrointestinal stromal tumors of the jejunum and ileum: a clinicopathologic, immunohistochemical, and molecular genetic study of 906 cases before imatinib with long-term followup. Am J Surg Pathol 2006; 30: 477-489. Go to original source... Go to PubMed...
  20. Papaetis GS, Syrigos KN. Targeted therapy for gastrointestinal stromal tumors: current status and future perspectives. Cancer Metastasis Rev 2010; 29: 151-170. Go to original source... Go to PubMed...




Oncology

Madam, Sir,
please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

I declare:

  1. that I have met the above instruction
  2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited


No

Yes

If your statement is not true, please be aware
that brings the risk of danger to their health or the health of others.