Gastric Gastrointestinal Stromal Tumors (GIST): a Case Series and Current State of the Art in the Workup and Treatment of This Rare Disease

  • Neil R. Sharma
  • Harishankar Gopakumar
  • Scott Harrison
  • Natalie Ehmke
  • Christina ZeltEmail author
Case Report


While the annual incidence of gastrointestinal stromal tumor (GIST) is estimated at only 10–20 per million, it is the most common form of mesenchymal neoplasm of gastrointestinal (GI) tract [1, 2]. Although the majority of GISTs occur in the stomach (60–70%), they can arise anywhere along the GI tract, including the esophagus, small intestine, and colon, as well as in extravisceral locations [3]. In past medical literature, the distinction between GISTs and other non-epithelial tumors of the GI tract had been overlooked; an omission that has since become highly clinically significant.

Unlike leiomyoma’s, which are benign and derive from smooth muscle, GISTs possess the potential for malignancy and are believed to develop from the pacemaker cells of the intestine, otherwise known as the interstitial cells of Cajal [ 4]. It is essential to differentiate the two types of intramural lesions in order to avoid unnecessary invasive treatments. The reported incidence of GIST has...


Funding information

This research was supported by The Mirro Center for Research and Innovation and the Parkview Research Center.


  1. 1.
    Mucciarini C, Rossi G, Bertolini F, Valli R, Cirilli C, Rashid I, et al. Incidence and clinicopathologic features of gastrointestinal stromal tumors. A population-based study. BMC Cancer. 2007;7(1):230. Scholar
  2. 2.
    Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279(5350):577–80. Scholar
  3. 3.
    Miettinen M, Lasota J. Gastrointestinal stromal tumors: definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch. 2001;438(1):1–12. Scholar
  4. 4.
    Nishida T, Hirota S. Biological and clinical review of stromal tumors in the gastrointestinal tract. Histol Histopathol. 2000;15(4):1293–301.PubMedGoogle Scholar
  5. 5.
    Sarlomo-Rikala M, Kovatich AJ, Barusevicius A, Miettinen M. CD117: a sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol. 1998;11(8):728–34.PubMedGoogle Scholar
  6. 6.
    De Vogelaere K, Aerts M, Haentjens P, de Grève J, Delvaux G. Gastrointestinal stromal tumor of the stomach: progresses in diagnosis and treatment. Acta Gastroenterol Belg. 2013;76(4):403–6.PubMedGoogle Scholar
  7. 7.
    Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science. 2003;299(5607):708–10. Scholar
  8. 8.
    DiMaio CJ, et al. Initial experience with a novel EUS-guided core biopsy needle (SharkCore): results of a large North American multicenter study. Endosc Int Open. 2016;4(9):E974–9.CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    El Chafic AM, Loren D, et al. Comparison of FNA and fine-needle biopsy for EUS-guided sampling of suspected GI stromal tumors. Gastrointest Endosc. 2017;86(3):510–5. Scholar
  10. 10.
    Levy AD, Remotti HE, Thompson WM, Sobin LH, Miettinen M. Gastrointestinal stromal tumors: radiologic features with pathologic correlation. Radiographics. 2003;23(2):283–304. Scholar
  11. 11.
    DeMatteo RP, Lewis JJ, Leung D, Mudan SS, Woodruff JM, Brennan MF. Two hundred gastrointestinal stromal tumors: recurrence patterns and prognostic factors for survival. Ann Surg. 2000;231(1):51–8. Scholar
  12. 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(1):53–64. Scholar
  13. 13.
    Miettinen M, Fetsch JF, Sobin LH, Lasota J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol. 2006;30(1):90–6. Scholar
  14. 14.
    Tran T, Davila JA, El-Serag HB. The epidemiology of malignant gastrointestinal stromal tumors: an analysis of 1,458 cases from 1992 to 2000. Am J Gastroenterol. 2005;100(1):162–8. Scholar
  15. 15.
    Kim KM, Kang DW, Moon WS, Park JB, Park CK, Sohn JH, et al. Gastrointestinal stromal tumors in Koreans: it’s incidence and the clinical, pathologic and immunohistochemical findings. J Korean Med Sci. 2005;20(6):977–84. Scholar
  16. 16.
    Goettsch WG, Bos SD, Breekveldt-Postma N, Casparie M, Herings RM, Hogendoorn PC. Incidence of gastrointestinal stromal tumours is underestimated: results of a nation-wide study. Eur J Cancer. 2005;41(18):2868–72. Scholar
  17. 17.
    Miettinen M, Lasota J. Gastrointestinal stromal tumors (GISTs): definition, occurrence, pathology, differential diagnosis and molecular genetics. Pol J Pathol. 2003;54(1):3–24.PubMedGoogle Scholar
  18. 18.
    Novitsky YW, Kercher KW, Sing RF, Heniford BT. Long-term outcomes of laparoscopic resection of gastrointestinal stromal tumors. Ann Surg. 2006;243(6):738–745; discussion 745-7. Scholar
  19. 19.
    Marano L, Torelli F, Schettino M, Porfidia R, Reda G, Grassia M, et al. Combined laparoscopic-endoscopic “rendezvous” procedure for minimally invasive resection of gastrointestinal stromal tumor of the stomach. Am Surg. 2011;77(8):1100–1102(3).PubMedGoogle Scholar
  20. 20.
    Wilhelm D, von Delius S, Burian M, Schneider A, Frimberger E, Meining A, et al. Simultaneous use of laparoscopy and endoscopy for minimally invasive resection of gastric subepithelia masses—analysis of 93 interventions. World J Surg. 2008;32(6):1021–8. Scholar
  21. 21.
    Davila JS, Mombian D, Gines A, Sanchez-Montes C, Araujo I, Saavendra-Perez D, et al. Endoscopic-assisted laparoscopic resection for gastric subepithelial tumors. Surg Endosc. 2016;30(1):199–203. Scholar
  22. 22.
    Kim HH. Endoscopic treatment for gastrointestinal stromal tumor: advantages and hurdles. World J Gastrointest Endosc. 2015;7(3):192–205.CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Andalib I, Yeoun D, Reddy R, Xie S, Iqbal S. Endoscopic resection of gastric gastrointestinal stromal tumors rising from the muscularis propria layer in North America: methods and feasibility data. Surg Endosc. 2017;
  24. 24.
    Ping-Hong Z, et al. Endoscopic full thickness resection without laparoscopic assistance for gastric submucosal tumors originated from the mucosal propria. Surg Endosc. 2011;25(9):2926–31.CrossRefGoogle Scholar
  25. 25.
    Nishida T. The role of endoscopy in the diagnosis of gastric gastrointestinal tumors. Ann Surg Oncol. 2015;22(9):2810–1. Scholar
  26. 26.
    Pappo AS, Janeway KA. Pediatric gastrointestinal stromal tumors. Hematol Oncol Clin North Am. 2009;23(1):15–34. Scholar
  27. 27.
    Fletcher CD, Berman JJ, Corless C, et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol. 2002;33(5):459–65. Scholar
  28. 28.
    Kawanowa K, Sakuma Y, Sakurai S, Hishima T, Iwasaki Y, Saito K, et al. High incidence of microscopic gastrointestinal stromal tumors in the stomach. Hum Pathol. 2006;37(12):1527–35. Scholar
  29. 29.
    Agaimy A, Wiinsch PH, Hofstaedter F, et al. Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c-KIT mutations. Am J Surg Pathol. 2007;31(1):113–20. Scholar
  30. 30.
    Yan BM, Kaplan GG, Urbanski S, Nash CL, Beck PL. Epidemiology of gastrointestinal stromal tumors in a defined Canadian Health Region: a population-based study. Int J Surg Pathol. 2008;16(3):241–50. Scholar
  31. 31.
    Demetri GD, Benjamin RS, Blanke CD, Blay JY, Casali P, Choi H, et al. NCCN Task Force report: management of patients with gastrointestinal stromal tumor (GIST)—update of the NCCN clinical practice guidelines. J Natl Compr Canc Netw. 2007;5(Suppl 2):S1–29. quiz S30PubMedGoogle Scholar
  32. 32.
    Blay JY, Bonvalot S, Casali P, Choi H, Debiec-Richter M, Dei Tos AP, et al. Consensus meeting for the management of gastrointestinal stromal tumors. Report of the GIST consensus conference of 20-21 March 2004, under the auspices of ESMO. Ann Oncol. 2005;16(4):566–78. Scholar
  33. 33.
    Benjamin RS, Choi H, Macapinlac HA, Burgess MA, Patel SR, Chen LL, et al. We should desist using RECIST, at least in GIST. J Clin Oncol. 2007;25(13):1760–4. Scholar
  34. 34.
    Agaimy A. Gastrointestinal stromal tumors (GIST) from risk stratification systems to the new TNM proposal: more questions than answers? A review emphasizing the need for a standardized GIST reporting. Int J Clin Exp Pathol. 2010;3(5):461–71.PubMedPubMedCentralGoogle Scholar
  35. 35.
    Hong HS, Ha HK, Won HJ, Byun JH, Shin YM, Kim AY, et al. Gastric schwannomas: radiological features with endoscopic and pathological correlation. Clin Radiol. 2008;63(5):536–42. Scholar
  36. 36.
    ESMO/European Sarcoma Network Working Group. Gastrointestinal stromal tumours: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2014;25(Suppl 3):iii21–6.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  • Neil R. Sharma
    • 1
  • Harishankar Gopakumar
    • 2
  • Scott Harrison
    • 3
  • Natalie Ehmke
    • 4
  • Christina Zelt
    • 2
    Email author
  1. 1.Parkview Cancer Institute, Advanced Interventional Endoscopy and Endoscopic Oncology, GI Oncology ProgramIndiana UniversityFort WayneUSA
  2. 2.Parkview Research CenterFort WayneUSA
  3. 3.Carolinas HealthCare SystemCharlotteUSA
  4. 4.Purdue UniversityWest LafayetteUSA

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