Histopathology of gastrointestinal stromal tumor

Journal of Surgical Oncology

Volumn 104, Issue 8, 2011, Pages 865-873

  Miettinen, Markku ^a   Lasota, Jerzy ^b  

^a NATIONAL CANCER INSTITUTE   (United States)

^b ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

Author keywords

anoctamin 1; gastrointestinal stromal tumor; KIT; PDGFRA; succinate dehydrogenase subunit B

Indexed keywords

CD34 ANTIGEN; PROTEIN TYROSINE KINASE INHIBITOR;

ADULT; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; COLON TUMOR; ESOPHAGUS; ESOPHAGUS TUMOR; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENETIC ASSOCIATION; HEMATOPOIETIC STEM CELL; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; NEUROFIBROMATOSIS; PARAGANGLIOMA; PRIORITY JOURNAL; RECTUM TUMOR; REVIEW; SARCOMA; TUMOR VOLUME;

DIAGNOSIS, DIFFERENTIAL; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; HUMANS; NEUROFIBROMATOSIS 1; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 80855130376     PISSN: 00224790     EISSN: 10969098     Source Type: Journal    
DOI: 10.1002/jso.21945     Document Type: Review

References (65)

1. Miettinen M, Lasota J,: Gastrointestinal stromal tumors. Review of morphology, molecular pathology, prognosis, and differential diagnosis. Arch Pathol Lab Med 2006; 130: 1466-1478. (Pubitemid 44520713)
2. Lee JR, Joshi V, Griffin JW, Jr, et al.: Gastrointestinal autonomic nerve tumor: Immunohistochemical and molecular identity with gastrointestinal stromal tumor. Am J Surg Pathol 2001; 25: 979-987. (Pubitemid 32685894)
3. Kitamura Y, Hirota S,: Kit as a human oncogenic tyrosine kinase. Review. Cell Mol Life Sci 2004; 61: 2924-2931. (Pubitemid 40104590)
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. (Pubitemid 28067289)
5. Heinrich MC, Corless CL, Duensing A, et al.: PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299: 708-710. (Pubitemid 36159485)
6. Demetri G,: Targeting the molecular pathophysiology of gastrointestinal stromal tumors with imatinib. Mechanisms, successes, and challenges to rational drug development. Hematol Oncol Clin North Am 2002; 16: 1115-1124. (Pubitemid 35462917)
7. Blay JY, von Mehren M, Blackstein ME,: Perspective on updated treatment guidelines for patients with gastrointestinal stromal tumors. Cancer 2010; 116: 5126-5137.
8. Kindblom LG, Remotti HE, Aldenborg F, et al.: Gastrointestinal pacemaker cell tumor (GIPACT). Gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 1998; 153: 1259-1269. (Pubitemid 28221878)
9. Huizinga JD, Thuneberg L, Kluppel M, et al.: W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity. Nature 1993; 373: 347-349.
10. Nilsson B, Bumming P, Medis-Kindblom JM, et al.: Gastrointestinal stromal tumors: The incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate era-A population-based study in western Sweden. Cancer 2005; 103: 821-829. (Pubitemid 40216412)
11. Tryggvason G, Gislason HG, Magnusson MK, et al.: Gastrointestinal stromal tumors in Iceland, 1990-2003: The Icelandic GIST study, a population-based incidence and pathologic risk stratification study. Int J Cancer 2005; 117: 289-293. (Pubitemid 41377450)
12. Agaimy A, Wunsch PH, Hofstaedter F, et al.: Minute sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show KIT mutations. Am J Surg Pathol 2007; 31: 113-120. (Pubitemid 46036910)
13. Abraham SC, Krasinskas AM, Hofstetter WL, et al.: Seedling mesenchymal tumors (gastrointestinal stromal tumors and leiomyomas) are common in cidental tumors of thevesophagogastric junction. Am J Surg Pathol 2007; 31: 1629-1635. (Pubitemid 350287560)
14. Tsuura Y, Hiraki H, Watanabe K, et al.: Preferential localization of c-kit product in tissue mast cells, basal cells of skin, epithelial cells of breast, small cell lung carcinoma and seminoma/dysgerminoma in human: Immunohistochemical study on formalin-fixed, paraffin-embedded tissues. Virchows Arch 1994; 424: 135-141. (Pubitemid 24105555)
15. Sarlomo-Rikala M, Kovatich A, Barusevicius A, et al.: CD117: A sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol 1998; 11: 728-734. (Pubitemid 28381606)
16. Hornick JL, Fletcher CD,: Immunohistochemical staining of KIT (CD117) in soft tissue sarcomas is very limited in distribution. Am J Clin Pathol 2002; 117: 188-193. (Pubitemid 34823657)
17. Medeiros F, Corless CL, Duensing A, et al.: KIT-negative gastrointestinal stromal tumors: Proof of concept and therapeutic implications. Am J Surg Pathol 2004; 28: 889-894. (Pubitemid 38856844)
18. Lasota J, Stachura J, Miettinen M,: GISTs with PDGFRA exon 14 mutations represent subset of clinically favorable gastric tumors with epithelioid morphology. Lab Invest 2006; 86: 94-100. (Pubitemid 43250972)
19. Yang YD, Cho H, Koo JY, et al.: TMEM16A confers receptor-activated calcium-dependent chloride conductance. Nature 2008; 455: 1210-1215.
20. Miettinen M, Wang ZF, Lasota J, et al.: Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet 1998; 19: 323-324.
21. Lee CH, Liang CW, Espinosa I,: The utility of discovered on gastrointestinal stromal tumor 1 (DOG1) antibody in surgical pathology-The GIST of it. Adv Anat Pathol 2010; 17: 222-232.
22. van de Rijn M, Rouse RV,: CD34-A review. Appl Immunohistochem 1994; 2: 71-80.
23. Duensing A, Joseph NE, Medeiros F, et al.: Protein kinase C theta (PKCtheta) expression and constitutive activation in gastrointestinal stromal tumors (GISTs). Cancer Res 2004; 64: 5127-5131. (Pubitemid 39006529)
24. Blay P, Astudillo A, Buesa JM, et al.: Protein kinase C theta is highly expressed in gastrointestinal stromal tumors but not in other mesenchymal neoplasias. Clin Cancer Res 2004; 10: 4089-4095. (Pubitemid 38812487)
25. Motegi A, Sakurai S, Nakayama H, et al.: PKC theta, a novel immunohistochemical marker for gastrointestinal stromal tumors (GIST), especially useful for identifying KIT-negative tumors. Pathol Int 2005; 55: 106-112. (Pubitemid 40477221)
26. Novelli M, Rossi S, Rodriquez-Justo M, et al.: DOG1 and CD117 are the antibodies of choice in the diagnosis of gastrointestinal stromal tumours. Histopathology 2010; 57: 259-270.
27. Miettinen M, Sobin LH, Lasota J,: Gastrointestinal stromal tumors of the stomach: A clinicopathologic, immunohistochemical, and molecular genetic studies of 1765 cases with long-term follow-up. Am J Surg Pathol 2005; 29: 52-68. (Pubitemid 40023952)
28. Miettinen M, Makhlouf HR, Sobin LH, et al.: Gastrointestinal stromal tumors (GISTs) of the jejunum and ileum-A clinicopathologic, immunohistochemical and molecular genetic study of 906 cases prior to imatinib with long-term follow-up. Am J Surg Pathol 2006; 31: 477-489. (Pubitemid 43740149)
29. Miettinen M, Furlong M, Sarlomo-Rikala M, et al.: Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the rectum and anus. A clinicopathologic, immunohistochemical, and molecular genetic study of 144 cases. Am J Surg Pathol 2001; 25: 1121-1133. (Pubitemid 32777711)
30. Miettinen M, Kopczynski J, Maklouf HR, et al.: Gastrointestinal stromal tumors, intramural leiomyomas and leiomyosarcomas in the duodenum-A clinicopathologic, immunohisto-chemical and molecular genetic study of 167 cases. Am J Surg Pathol 2003; 27: 625-641. (Pubitemid 36514473)
31. Lasota J, Miettinen M,: Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumors. Histopathology 2008; 53: 245-266.
32. Lasota J, Miettinen M, Lasota J, et al.: A great majority of GISTs with PDGFRA mutations represent gastric tumors with low or no malignant potential. Lab Invest 2004; 84: 874-883. (Pubitemid 38833247)
33. Corless CL, Schroeder A, Griffith D, et al.: PDGFRA mutations in gastrointestinal stromal tumors: Frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23: 5357-5364. (Pubitemid 46206989)
34. Lasota J, Corless CL, Heinrich MC, et al.: Clinicopathologic profile of gastrointestinal stromal tumors (GISTs) with primary KIT exon 13 or exon 17 mutations: A multicenter study of 54 cases. Mod Pathol 2008; 21: 476-484. (Pubitemid 351441037)
35. Min K-W,: Small intestinal stromal tumors with skeinoid fibers. Clinicopathological, immunohistochemical, and ultrastructural investigations. Am J Surg Pathol 1992; 16: 145-155.
36. Antonescu CR, Sommer G, Sarran L, et al.: Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res 2003; 9: 3329-3337. (Pubitemid 37082727)
37. Miettinen M, Sarlomo-Rikala M, Sobin LH, et al.: Gastrointestinal stromal tumors and leiomyosarcomas in the colon. A clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases. Am J Surg Pathol 2000; 24: 1339-1352.
38. Hassan I, You N, Dozois EJ, et al.: Clinical, pathologic, and immunohistochemical characteristics of gastrointestinal stromal tumors of the colon and rectum: Implications for surgical management and adjuvant therapies. Dis Col Rectum 2006; 49: 609-615. (Pubitemid 43723808)
39. Agaimy A, Wunsch PH, Dirnhofer S, et al.: Microscopic gastrointestinal stromal tumors in esophageal and intestinal surgical resection specimens: A clinicopathologic, immunohistochemical and molecular study of 19 lesions. Am J Surg Pathol 2008; 32: 867-873.
40. Herawi M, Montgomery EA, Epstein JI,: Gastrointestinal stromal tumors (GISTs) on prostate needle biopsy: A clinicopathologic study of 8 cases. Am J Surg Pathol 2006; 30: 1389-1395. (Pubitemid 44655472)
41. Miettinen M, Sarlomo-Rikala M, Sobin LH, et al.: Esophageal stromal tumors: A clinicopathologic, immunohistochemical, and molecular genetic study of 17 cases and comparison with esophageal leiomyomas and leiomyosarcomas. Am J Surg Pathol 2000; 24: 211-222. (Pubitemid 30078710)
42. Reith JD, Goldblum JR, Lyles RH, et al.: Extragastrointestinal (soft tissue) stromal tumors. An analysis of 48 cases with emphasis on histological predictors of outcome. Mod Pathol 2000; 13: 577-585. (Pubitemid 30332111)
43. Agaimy A, Wunsch PH,: Gastrointestinal stromal tumours: A regular origin in the muscularis propria, but an extremely diverse gross presentation. A review of 200 to critically re-evaluate the concept of so-called extragastrointestinal stromal tumors. Langenbecks Arch Surg 2006; 391: 322-329. (Pubitemid 44298421)
44. Miettinen M, Sobin LH, Lasota J,: Gastrointestinal stromal tumors presenting as omental masses-A clinicopathologic analysis of 95 cases. Am J Surg Pathol 2009; 33: 1267-1275.
45. Miettinen M, Monihan JM, Sarlomo-Rikala M, et al.: Gastrointestinal stromal tumors/smooth muscle tumors/GISTs in the omentum and mesentery-Clinicopathologic and immunohistochemical study of 26 cases. Am J Surg Pathol 1999; 23: 1109-1118. (Pubitemid 29409774)
46. Andersson J, Sihto H, Meis-Kindblom JM, et al.: NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics. Am J Surg Pathol 2005; 29: 1170-1176. (Pubitemid 41232989)
47. Miettinen M, Fetsch JF, Sobin LH, et al.: Gastrointestinal stromal tumors in patients with neurofibromatosis 1. A clinicopathologic study of 45 patients with long-term follow-up. Am J Surg Pathol 2006; 30: 90-96. (Pubitemid 43740214)
48. Kinoshita K, Hirota S, Isozaki K, et al.: Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol 2004; 202: 80-85. (Pubitemid 38072848)
49. 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. (Pubitemid 43338241)
50. Carney JA,: Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney triad): Natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc 1999; 74: 543-552.
51. 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.
52. Stratakis CA, Carney JA,: The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad) and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): Molecular genetics and clinical implications. J Intern Med 2009; 266: 43-52.
53. 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 encoding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
54. Prakash S, Sarran L, Socci N, et al.: Gastrointestinal stromal tumors in children and young adults: A clinicopathologic, molecular, and genomic study of 15 cases and review of the literature. J Pediatr Hematol Oncol 2005; 27: 179-187. (Pubitemid 40604837)
55. 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. (Pubitemid 41368774)
56. Zhang L, Smyrk TC, Young WF, et al.: Gastric stromal tumors in Carney triad are different clinically, patholoigically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: Findings in 104 cases. Am J Surg Pathol 2010; 34: 53-64.
57. Gill AJ, Chou A, Vilain R, et al.: Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. Am J Surg Pathol 2010; 34: 636-644.
58. Agarwal R, Robson M,: Inherited predisposition to gastrointestinal stromal tumor. Hematol Oncol Clin N Am 2009; 23: 1-13.
59. Carballo M, Roig I, Aguilar F, et al.: Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpitgmentation. Am J Med Genet 2005; 132: 361-364. (Pubitemid 40175584)
60. Li FP, Fletcher JA, Heinrich MC, et al.: Familial gastrointestinal stromal tumor syndrome: Phenotypic and molecular features in a kindred. J Clin Oncol 2005; 23: 2735-2743. (Pubitemid 46179463)
61. Chompret A, Kannengiesser C, Barrois M, et al.: PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 2004; 65: 187-197.
62. Chen H, Hirota S, Isozaki K, et al.: Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial gastrointestinal stromal tumours. Gut 2002; 51: 793-796. (Pubitemid 35408597)
63. Sommer G, Agosti V, Ehlers I, et al.: Gastrointestinal stromal tumors in a mouse model by targeted mutation of the kit receptor tyrosine kinase. Proc Natl Acad Sci USA 2003; 100: 6706-6711. (Pubitemid 36666644)
64. Rubin BP, Antonescu CR, Scott-Browne JP, et al.: A knock-in mouse model of gastrointestinal stromal tumor harboring kit K641E. Cancer Res 2005; 65: 6631-6639. (Pubitemid 41060699)
65. Nakai N, Ishikawa T, Nishitani A, et al.: A mouse model of a human multiple GIST family with KIT-Asp820Tyr mutation generated by a knock-in strategy. J Pathol 2008; 214: 302-311. (Pubitemid 351212385)