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Gastrointestinal stromal tumours (GIST)- Pathology and clinical applications of recent molecular advances --A perspective review.

Year 2014, Volume: 4 Issue: 2 EK, 100 - 90, 11.09.2014

Sharmila Dudani Shivani Kalhan Sonia Sharma Anshu Gupta

Abstract

 Gastrointestinal stromal tumours ( GISTs) are the most common  mesenchymal tumours of the GI tract. They occur most frequently in stomach (60-70%), or small intestine(SI) ( 25-30%). Rare sites include colon, rectum, appendix and esophagus (<10%). On histology their appearance varies from cellular spindle cell tumours to epithelioid to pleomorphic tumours. Traditionally, three criteria have been used to determine malignancy, which include site of origin (SI and rectal tumours  are more aggressive than stomach tumours), tumour size( >5 cm) and mitotic rate.(>5/50 hpf ).GISTs are characterized by gain of function mutation in c kit (CD117) proto oncogene most commonly involving exon 11. GISTs without c kit mutation show mutations in  platelet derived growth factor receptor alpha( PDGFRα).Surgery has been the standard treatment for resectable GISTs, but  metastatic and unresectable GISTs had a poor prognosis. Recent molecular advances have opened new vistas leading to the development of specific molecular targeted therapies which stabilize the disease and reduce the frequency of disease recurrence. This review summarizes our existing knowledge, recent advances regarding histogenesis, pathology, molecular biology, and targeted cancer therapies which has revolutionized the management of these diseases.

 

 

Keywords

Gastrointestinal stromal tumours; c-kit

References

  • 1. Mazur MT, Clark HB. Gastric stromal tumours. Reappraisal of histogenesis. Am J Surg Pathol 1983; 7: 507-519.
  • 2. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiquro S et al. Gain of function mutations of c-kit in human gastrointestinal stromal tumours. Science 1998; 279: 577-80.
  • 3. Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H et al. Kinase mutations and imatinib response in patients’ with metastatic gastrointestinal stromal tumour. J. Clin Oncol 2003; 21: 4342-9
  • 4. Joensuu H.Gastrointestinal stromal tumour( GIST). Annals of Oncology 2006; 17: 280-286.
  • 5. Tryggvason G, Gislason HG, Magnusson MK, Jonasson JG. Gastrointestinal stromal tumours in Iceland, 1990-2003. The Icelandic GIST study, a population based incidence and pathologic risk stratification study. Int J Cancer 2005; 117: 289-293.
  • 6. Goettsch WG, Bos SD, Breekveldt- Postma N, Casparie M, Herings RM, Hoogendoorn PC. Incidence of gastrointestinal stromal tumours is underestimated. Results of a nationwide study. Eur J Cancer 2005; 41: 2868-2872.
  • 7. Long KB, Butryuski JE, Blank SD, Ebrahim KS, Dressel DM, Heinrich MC et al. Primary extra gastrointestinal tumour of the pleura. Report of a unique case with genetic confirmation. Am J Surg Pathol 2010; 34: 907-12.
  • 8. Agaram NP, Laquaglia MP, Ustun B, Guo T, Wong GC, Socci ND et al. Molecular characterization of pediatric gastrointestinal stromal tumours. Clin Cancer Res 2008; 14: 3204-15.
  • 9. DeMatoo RP, Lewis JJ, Leung D,Mudan SS, Woodruff JM, Brennan MF. Two hundred gastrointestinal stromal tumours. Recurrence patterns and prognostic factors for survival. Ann Surg 2000; 231: 51-58.
  • 10. Palazzo L, Landi B, Callier C, Cuillerier E, Roseau G, Barbier JP. Endosonographic features predictive of benign and malignant gastrointestinal stromal tumours. Gut 2000; 46: 88-92.
  • 11. .Miettinen M, Lasota J, Sobin LH. Gastrointestinal stromal tumours of the stomach in children and young adults: a clinicopathological and immunohistochemical and molecular genetic study of 44 cases with long term follow up and review of literature . Am J Surg Pathol 2005; 29: 1373-81.
  • 12. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumours . J Clin Oncol 2004; 22: 3813-25.
  • 13. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N et al . PDGFRA activating mutations in gastrointestinal stromal tumours. Science 2003; 299(5607): 708-10.
  • 14. Demetri GD, von Mehren M, Antonescu CR, DeMatteo RP, Ganjoo KN, Mati RG et al. NCCN Task Force Report: update on management of patients’ with gastrointestinal stromal tumours. J Natl Compr Canc Netw 2010; Suppl 2: S1-41, quiz S42-4.
  • 15. Turner MS, Goldsmith JD. Best practices in diagnostic immunohistochemistry of spindle cell neoplasms of the gastrointestinal tract. Arch Pathol Lab Med 2009; 133: 1370-4.
  • 16. Liegl B, Hornick JL, Corless CL, Fletcher CD. Monoclonal antibody DOG1.1 shows higher sensitivity than kit in the diagnosis of gastrointestinal stromal tumours including unusual subtypes. Am J Surg Pathol 2009; 33 : 437-46.
  • 17. Ng EH, Pollock RE, Munsell MF, Atkinson EN, Romsdahl MM. Prognostic factors influencing survival in gastrointestinal leiomyosarcoma. Implications for surgical management and staging. Ann Surg 1992; 25: 68-71.
  • 18. De Matteo RP, Lewis JJ, Leung D, Mudan SS, Woodruff JM, Brennan MF. Two hundred gastrointestinal stromal tumours. Recurrence patterns and prognostic factors for survival. Ann Surg 2000; 231: 51-57.
  • 19. Al-Kalaawy M, El-Zohairy MA, Mostafa A, AlKalaawy A, El-Sebae H Gastrointestinal stromal tumours( GISTs),10 year experience: patterns of failure and prognostic factors for survival of 127 patients. J Egypt Nat Canc Inst 2012; 24: 31-9.
  • 20. Demetri GD, van Oosterom AT, Blackstein M, Shah MH, Verweij J, McArthur G et al. Phase 3, multicenter, randomized, double blind, placebo controlled trial of SUI1248 in patients’ following failure of imatinib for metastatic GIST. Proc Am Soc Clin Oncol 2005; 23: 308s
  • 21. Blanke CD, Demetri GD, von Mehren M, Heinrich MC, Eisenberg B, Fletcher JA et al. Long term results from a randomized phase II trial of standard vs higher dose imatinib mesylate for patients’ with unresectable or metastatic gastrointestinal stromal tumours expressing kit. J Clin Oncol 2008; 26: 620-5.
  • 22. Liegl B,Kepten I, Le C, Zhu M , Demetri GD, Heinrich MC et al. Heterogeneity of kinase inhibitor resistance mechanisms in GIST. J Pathol 2008; 216: 64- 74.
  • 23. Belev B, Brcic I, Prejac J, Golubic ZA, Vrbanec D, Bozikov J et al. Role of ki-67 as a prognostic factor in gastrointestinal stromal tumours. World J Gastroenterol 2013; 19: 523-527.
  • 24. Li FP, Fletcher JA, Heinrich MC, Garber JE, Sallan SE, Curiel- Lewandrowski C et al. Familial gastrointestinal stromal tumour syndrome: phenotypic and molecular features in a kindred. J Clin Oncol 2005; 23: 2375-2743.
  • 25. Tsukuda K, Hirai R, Miyake T, Takagi S, Ikeda E, Kunitomo T et al. The outcome of gastrointestinal stromal tumours (GISTs) after a surgical resection in our institute. Surg Today 2007; 37: 953-957

Gastrointestinal stromal tümörler (GİST) - Patoloji ve yeni moleküler gelişimlerin klinik uygulamaları - Bir perspektif yorum

Year 2014, Volume: 4 Issue: 2 EK, 100 - 90, 11.09.2014

Sharmila Dudani Shivani Kalhan Sonia Sharma Anshu Gupta

Abstract

References

  • 1. Mazur MT, Clark HB. Gastric stromal tumours. Reappraisal of histogenesis. Am J Surg Pathol 1983; 7: 507-519.
  • 2. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiquro S et al. Gain of function mutations of c-kit in human gastrointestinal stromal tumours. Science 1998; 279: 577-80.
  • 3. Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H et al. Kinase mutations and imatinib response in patients’ with metastatic gastrointestinal stromal tumour. J. Clin Oncol 2003; 21: 4342-9
  • 4. Joensuu H.Gastrointestinal stromal tumour( GIST). Annals of Oncology 2006; 17: 280-286.
  • 5. Tryggvason G, Gislason HG, Magnusson MK, Jonasson JG. Gastrointestinal stromal tumours in Iceland, 1990-2003. The Icelandic GIST study, a population based incidence and pathologic risk stratification study. Int J Cancer 2005; 117: 289-293.
  • 6. Goettsch WG, Bos SD, Breekveldt- Postma N, Casparie M, Herings RM, Hoogendoorn PC. Incidence of gastrointestinal stromal tumours is underestimated. Results of a nationwide study. Eur J Cancer 2005; 41: 2868-2872.
  • 7. Long KB, Butryuski JE, Blank SD, Ebrahim KS, Dressel DM, Heinrich MC et al. Primary extra gastrointestinal tumour of the pleura. Report of a unique case with genetic confirmation. Am J Surg Pathol 2010; 34: 907-12.
  • 8. Agaram NP, Laquaglia MP, Ustun B, Guo T, Wong GC, Socci ND et al. Molecular characterization of pediatric gastrointestinal stromal tumours. Clin Cancer Res 2008; 14: 3204-15.
  • 9. DeMatoo RP, Lewis JJ, Leung D,Mudan SS, Woodruff JM, Brennan MF. Two hundred gastrointestinal stromal tumours. Recurrence patterns and prognostic factors for survival. Ann Surg 2000; 231: 51-58.
  • 10. Palazzo L, Landi B, Callier C, Cuillerier E, Roseau G, Barbier JP. Endosonographic features predictive of benign and malignant gastrointestinal stromal tumours. Gut 2000; 46: 88-92.
  • 11. .Miettinen M, Lasota J, Sobin LH. Gastrointestinal stromal tumours of the stomach in children and young adults: a clinicopathological and immunohistochemical and molecular genetic study of 44 cases with long term follow up and review of literature . Am J Surg Pathol 2005; 29: 1373-81.
  • 12. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumours . J Clin Oncol 2004; 22: 3813-25.
  • 13. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N et al . PDGFRA activating mutations in gastrointestinal stromal tumours. Science 2003; 299(5607): 708-10.
  • 14. Demetri GD, von Mehren M, Antonescu CR, DeMatteo RP, Ganjoo KN, Mati RG et al. NCCN Task Force Report: update on management of patients’ with gastrointestinal stromal tumours. J Natl Compr Canc Netw 2010; Suppl 2: S1-41, quiz S42-4.
  • 15. Turner MS, Goldsmith JD. Best practices in diagnostic immunohistochemistry of spindle cell neoplasms of the gastrointestinal tract. Arch Pathol Lab Med 2009; 133: 1370-4.
  • 16. Liegl B, Hornick JL, Corless CL, Fletcher CD. Monoclonal antibody DOG1.1 shows higher sensitivity than kit in the diagnosis of gastrointestinal stromal tumours including unusual subtypes. Am J Surg Pathol 2009; 33 : 437-46.
  • 17. Ng EH, Pollock RE, Munsell MF, Atkinson EN, Romsdahl MM. Prognostic factors influencing survival in gastrointestinal leiomyosarcoma. Implications for surgical management and staging. Ann Surg 1992; 25: 68-71.
  • 18. De Matteo RP, Lewis JJ, Leung D, Mudan SS, Woodruff JM, Brennan MF. Two hundred gastrointestinal stromal tumours. Recurrence patterns and prognostic factors for survival. Ann Surg 2000; 231: 51-57.
  • 19. Al-Kalaawy M, El-Zohairy MA, Mostafa A, AlKalaawy A, El-Sebae H Gastrointestinal stromal tumours( GISTs),10 year experience: patterns of failure and prognostic factors for survival of 127 patients. J Egypt Nat Canc Inst 2012; 24: 31-9.
  • 20. Demetri GD, van Oosterom AT, Blackstein M, Shah MH, Verweij J, McArthur G et al. Phase 3, multicenter, randomized, double blind, placebo controlled trial of SUI1248 in patients’ following failure of imatinib for metastatic GIST. Proc Am Soc Clin Oncol 2005; 23: 308s
  • 21. Blanke CD, Demetri GD, von Mehren M, Heinrich MC, Eisenberg B, Fletcher JA et al. Long term results from a randomized phase II trial of standard vs higher dose imatinib mesylate for patients’ with unresectable or metastatic gastrointestinal stromal tumours expressing kit. J Clin Oncol 2008; 26: 620-5.
  • 22. Liegl B,Kepten I, Le C, Zhu M , Demetri GD, Heinrich MC et al. Heterogeneity of kinase inhibitor resistance mechanisms in GIST. J Pathol 2008; 216: 64- 74.
  • 23. Belev B, Brcic I, Prejac J, Golubic ZA, Vrbanec D, Bozikov J et al. Role of ki-67 as a prognostic factor in gastrointestinal stromal tumours. World J Gastroenterol 2013; 19: 523-527.
  • 24. Li FP, Fletcher JA, Heinrich MC, Garber JE, Sallan SE, Curiel- Lewandrowski C et al. Familial gastrointestinal stromal tumour syndrome: phenotypic and molecular features in a kindred. J Clin Oncol 2005; 23: 2375-2743.
  • 25. Tsukuda K, Hirai R, Miyake T, Takagi S, Ikeda E, Kunitomo T et al. The outcome of gastrointestinal stromal tumours (GISTs) after a surgical resection in our institute. Surg Today 2007; 37: 953-957
There are 25 citations in total.

Details

Primary Language English
Journal Section Review Article
Authors

Sharmila Dudani This is me

Shivani Kalhan This is me

Sonia Sharma This is me

Anshu Gupta This is me

Publication Date September 11, 2014
Published in Issue Year 2014 Volume: 4 Issue: 2 EK

Cite

APA Dudani, S., Kalhan, S., Sharma, S., Gupta, A. (2014). Gastrointestinal stromal tumours (GIST)- Pathology and clinical applications of recent molecular advances --A perspective review. Çağdaş Tıp Dergisi, 4(2 EK), 100-90.
AMA Dudani S, Kalhan S, Sharma S, Gupta A. Gastrointestinal stromal tumours (GIST)- Pathology and clinical applications of recent molecular advances --A perspective review. J Contemp Med. October 2014;4(2 EK):100-90.
Chicago Dudani, Sharmila, Shivani Kalhan, Sonia Sharma, and Anshu Gupta. “Gastrointestinal Stromal Tumours (GIST)- Pathology and Clinical Applications of Recent Molecular Advances --A Perspective Review”. Çağdaş Tıp Dergisi 4, no. 2 EK (October 2014): 100-90.
EndNote Dudani S, Kalhan S, Sharma S, Gupta A (October 1, 2014) Gastrointestinal stromal tumours (GIST)- Pathology and clinical applications of recent molecular advances --A perspective review. Çağdaş Tıp Dergisi 4 2 EK 100–90.
IEEE S. Dudani, S. Kalhan, S. Sharma, and A. Gupta, “Gastrointestinal stromal tumours (GIST)- Pathology and clinical applications of recent molecular advances --A perspective review”., J Contemp Med, vol. 4, no. 2 EK, pp. 100–90, 2014.
ISNAD Dudani, Sharmila et al. “Gastrointestinal Stromal Tumours (GIST)- Pathology and Clinical Applications of Recent Molecular Advances --A Perspective Review”. Çağdaş Tıp Dergisi 4/2 EK (October 2014), 100-90.
JAMA Dudani S, Kalhan S, Sharma S, Gupta A. Gastrointestinal stromal tumours (GIST)- Pathology and clinical applications of recent molecular advances --A perspective review. J Contemp Med. 2014;4:100–90.
MLA Dudani, Sharmila et al. “Gastrointestinal Stromal Tumours (GIST)- Pathology and Clinical Applications of Recent Molecular Advances --A Perspective Review”. Çağdaş Tıp Dergisi, vol. 4, no. 2 EK, 2014, pp. 100-90.
Vancouver Dudani S, Kalhan S, Sharma S, Gupta A. Gastrointestinal stromal tumours (GIST)- Pathology and clinical applications of recent molecular advances --A perspective review. J Contemp Med. 2014;4(2 EK):100-90.