Gastrointestinal stromal tumors. A morphologic and molecular genetic independent tumor entity with new therapeutic perspectives;Gastrointestinale stromatumoren. Eine morphologisch und molekular eigenständige tumorentität mit neuer therapeutischer perspektive

Pathologe

Volumn 24, Issue 3, 2003, Pages 182-191

  Mechtersheimer, G ^a   Lehnert, T ^b   Penzel, R ^a   Joos, S ^c   Egerer, G ^a   Otto, H F ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

CD117 (KIT); Cytogenetics; Gastrointestinal stromal tumor; Imatinib (STI571 Glivec ); KIT mutation

Indexed keywords

BCR ABL PROTEIN; IMATINIB; PLATELET DERIVED GROWTH FACTOR RECEPTOR; PROTEIN TYROSINE PHOSPHATASE; STEM CELL FACTOR RECEPTOR;

CHROMOSOME 14; CHROMOSOME 1P; CHROMOSOME ABERRATION; CHROMOSOME ARM; CHROMOSOME IMBALANCE; CHROMOSOME LOSS; CYTOGENETICS; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE ACTIVATION; GENE KIT; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; MOLECULAR GENETICS; MORPHOLOGY; MUSCLE TUMOR; PROTEIN PHOSPHORYLATION; REVIEW; TUMOR GROWTH;

EID: 0037603259     PISSN: 01728113     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00292-003-0612-2     Document Type: Review

References (66)

1. Amin MB, Chan KMA, Linden MD, Kubus JJ, Zarbo RJ (1993) Prognostic value of proliferating cell nuclear antigen index in gastrointestinal stromal tumors: correlation with mitotic count and clinical outcome. Am J Clin Pathol 100:428-432
2. Appelman HD (1986) Smooth muscle tumors of the gastrointestinal tract: what we know now that Stout didn't know. Am J Surg Pathol 10 [Suppl 1]:83-99
3. Appelman HD (1990) Mesenchymal tumors of the gut: histological perspectives, new approaches, new results, and does it make any difference? Monogr Pathol 31:220-246
4. Brainard JA, Goldblum JR (1997) Stromal tumors of the jejunum and ileum: a clinicopathologic study of 39 cases. Am J Surg Pathol 21:407-416
5. Breiner JA, Meis-Kindblom J, Kindblom LG, McComb E, Liu J, Nelson M, Bridge JA (2000) Loss of 14q and 22q in gastrointestinal stromal tumors (pacemaker cell tumors). Cancer Genet Cytogenet 120:111-116
6. Carney JA (1999) Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney triad): natural history, adrenocortical component, and possible familial occurence. Mayo Clin Proc 74:543-552
7. Carrillo R, Candia A, Rodriguez-Peralto JL, Caz V (1997) Prognostic significance of DNA ploidy and proliferative index (MIB-1 index) in gastrointestinal stromal tumors. Hum Pathol 28:160-165
8. Cook JR, Dehner LP, Collins MH, Ma Z, Morris SW, Coffin CM, Hill DA (2001) Anaplastic lymphoma kinase (ALK) expression in the inflammatory myofibroblastic tumor: a comparative immunohistochemical study. Am J Surg Pathol 25:1364-1371
9. Corless CL, McGreevey L, Haley A, Town A, Heinrich MC (2002) KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol 160:1567-1572
10. Cunningham RE, Federspiel BH, McCarthy WF, Sobin LH, O'Leary TJ (1993) Predicting prognosis of gastrointestinal smooth muscle tumors. Role of clinical and histologic evaluation, flow cytometry, and image cytometry. Am J Surg Pathol 17:588-594
11. DeMatteo RP, Lewis JJ, Leung D, Mudan SS, Woodruff JM, Brennan MF (2000) Two hundred gastrointestinal stromal tumors. Recurrence patterns and prognostic factors for survival. Ann Surg 231:51-58
12. DeMatteo RP, Heinrich MC, El-Rifai WM, Demetri G (2002) Clinical management of gastrointestinal stromal tumors: before and after STI-571. Hum Pathol 33:466-477
13. Demetri GD, Mehren M von, Blanke CD et al. (2002) Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med 347:472-480
14. Druker NJ, Talpaz M, Resta DJ et al.(2001) Efficacy and safety of a specific inhibitor of the BCR-ABL tyrosine kinase in chronic myeloid leukemia. N Engl J Med 344:1031-1037
15. El-Naggar AK, Ro JY, McLemore D, Garnsey L, Ordoñez N, MacKay B (1989) Gastrointestinal stromal tumors: DNA flow-cytometric study of 58 patients with at least five years of follow-up. Mod Pathol 2:511-515
16. El-Rifai W, Sarlomo-Rikala M, Andersson LC, Knuutila S, Miettinen M (2000a) DNA sequence copy number changes in gastrointestinal stromal tumors: tumor progression and prognostic significance. Cancer Res 60:3899-3903
17. El-Rifai W, Sarlomo-Rikala M, Andersson LC, Miettinen M, Knuutila S (2000b) High-resolution deletion mapping of chromosome 14 in stromal tumors of the gastrointestinal tract suggests two distinct tumor suppressor loci. Genes Chromosomes Cancer 27:387-391
18. Emory TS, Sobin LH, Lukes L, Lee DH, O'Leary TJ (1999) Prognosis of gastrointestinal smoothmuscle (stromal) tumors. Dependence on anatomic site. Am J Surg Pathol 23:82-87
19. Franquemont DW (1995) Differentiation and risk assessment of gastrointestinal stromal tumors. Am J Clin Pathol 103:41-47
20. Fuller CE, Williams GT (1991) Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 19:1-11
21. Gibson PC, Cooper K (2002) CD117 (KIT): a diverse protein with selective applications in surgical pathology. Adv Anat Pathol 9:65-69
22. Goldblum JR, Appelman HD (1995) Stromal tumors of the duodenum. Am J Surg Pathol 19:71-80
23. Gunawan B, Bergmann F, Höer J, Langer C, Schumpelick V, Becker H, Füzesi L (2002) Biological and clinical significance of cytogenetic abnormalities in low-risk and high-risk gastrointestinal stromal tumors. Hum Pathol 33:316-321
24. Haque S, Dean PJ (1992) Stromal neoplasms of the rectum and anal canal. Hum Pathol 23:762-767
25. Heinrich MC, Griffith DJ, Druker BJ, Wait CL, Ott KA, Ziegler AJ (2000) Inhibition of c-kit receptor tyrosine kinase activity by STI571, a selective tyrosine kinase inhibitor. Blood 96:925-932
26. Hirota S, Isozaki K, Moriyama Y et al. (1998) Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 279:577-580
27. Hirota S, Nishida T, Isozaki K, Taniguchi M, Nakamura J, Okazaki T, Kitamura Y (2001) Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. J Pathol 193:505-510
28. Hirota S, Nishida T, Isozaki K et al. (2002) Familial gastrointestinal stromal tumors associated with dysphagia and novel germline mutation of KIT gene. Gastroenterology 122:1493-1499
29. Joensuu H, Roberts PJ, Sarlomo-Rikala M et al. (2001) Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stroma tumor. N Engl J Med 344:1052-1056
30. Kim N-G, Kim JJ, Ahn L-Y, Seong C-M, Noh SH, Kim CB, Min JS (2000) Putative chromosomal deletions on 9p, 9q and 22q occur preferentially in malignant gastrointestinal stromal tumors. Int J Cancer 85:633-638
31. Kindblom LG, Remotti HE, Aldenborg F, Meis-Kindblom JM (1998) Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 152:1259-1269
32. Lasota J, Jasinski M, Sarlomo-Rikala M et al. (1999) Mutations in exon 11 of c-kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. Am J Pathol 154:53-60
33. Lasota J, Wozniak A, Sarlomo-Rikala M et al. (2000) Mutations in exons 9 and 13 of KIT gene are rare events in gastrointestinal stromal tumors: a study of 200 cases. Am J Pathol 157:1091-1095
34. Lee JR, Joshi V, Griffin JW, Lasota J, Miettinen M (2001) Gastrointestinal autonomic nerve tumor. Immunohistochemical and molecular identity with gastrointestinal stromal tumor. Am J Surg Pathol 25:979-987
35. Lehnert T (1998) Gastrointestinal sarcoma (GIST) - a review of surgical management. Ann Chir Gynaecol 87:297-305
36. Mechtersheimer G, Otaño-Joos M, Ohl S, Benner A, Lehnert T, Willeke F, Möller P, Otto HF, Lichter P, Joos S (1999) Analysis of chromosomal imbalances in sporadic and NF1-associated peripheral nerve sheath tumors by comparative genomic hybridisation. Genes Chromosomes Cancer 25:362-369
37. Mechtersheimer G, Otaño-Joos M, Freier K, Rieker R, Schwarzbach M, Willeke F, Lehnert T, Lichter P, Otto HF, Joos S (2000) Different patterns of DNA copy number changes in gastrointestinal stromal sarcomas, leiomyosarcomas, and malignant peripheral nerve sheath tumors. Pathol Res Pract 196:389, a174
38. Miettinen M (2001) Are desmoid tumors kit positive? Am J Surg Pathol 25:549-550
39. Miettinen M, Lasota J (2001) Gastrointestinal stromal tumors - definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 438:1-12
40. Miettinen M, Monihan JM, Sarkomo-Rikala M, Kovatich AJ, Carr NJ, Emory TS, Sobin LH (1999) Gastrointestinal stromal tumors/smooth muscle tumors (GISTs) primary in the omentum and mesentery: clinicopathologic and immunohistochemical study of 26 cases. Am J Surg Pathol 23:1109-1118
41. Miettinen M, Blay JY, Sobin LH (2000a) Mesenchymal tumours of the stomach. In: Hamilton SR,Aaltonen LA (eds) World Health Organization classification of tumours. Pathology and genetics of the digestive system, 1st edn. IARC Press, Lyon, France, pp 62-65
42. Miettinen M, Sarlomo-Rikala M, Sobin LH, Lasota J (2000b) Esophageal stromal tumors. A clinicopathologic, immunohistochemical, and molecular genetic study of 17 cases and comparison with esophageal leiomyomas and leiomyosarcomas. Am J Surg Pathol 24:211-222
43. Miettinen M, Sarlomo-Rikala M, Sobin LH, Lasota J (2000c) Gastrointestinal stromal tumors and leiomyosarcomas in the colon. Am J Surg Pathol 24:1339-1352
44. Miettinen M, Sobin L, Sarlomo-Rikala M (2000d) Immunohistochemical spectrum of GISTs at different sites and their differential diagnosis with a reference to CD117 (KIT). Mod Pathol 13:1134-1142
45. Miettinen M, Furlong M, Sarlomo-Rikala M, Burke A, Sobin LH, Lasota J (2001) 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 25:1121-1133
46. Moyana TN, Freisen R, Tan LK (1991) Colorectal smooth-muscle tumors: a pathologic study with immunohistochemistry and histomorphometry. Arch Pathol Lab Med 115:1016-1021
47. O'Leary T, Ernst S, Przygodzki R, Emory T, Sobin L (1999) Loss of heterozygosity at 1p36 predicts poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab Invest 79:1461-1467
48. Oosterom AT van, Judson I, Verwej J, Stroobants S, Paola ED di, Dimitrijevic S, Martens M, Webb A, Sciot R, Glabbeke M van, Silberman S, Nielsen OS (2001) Safety and efficacy of imatinib (STI571) in metastatic gastrointestinal stromal tumours: a phase I study. Lancet 358:1421-1423
49. Otaño-Joos M, Mechtersheimer G, Ohl S, Wilgenbus KK, Scheurlen W, Lehnert T, Willeke F, Otto HF, Lichter P, Joos S (2000) Detection of chromosomal imbalances in leiomyosarcoma by comparative genomic hybridization and interphase cytogenetics. Cytogenet Cell Genet 90:86-92
50. Reith JD, Goldblum JR, Lyles RH, Weiss SW (2000) Extragastrointestinal (soft tissue) stromal tumors: an analysis of 48 cases with emphasis on histologic predictors of outcome. Mod Pathol 13:577-585
51. Robinson TL, Sircar K, Hewlett BR, Chorneyko K, Riddell RH, Huizinga JD (2000) Gastrointestinal stromal tumors may originate from a subset of CD34-positive interstitial cells of Cajal. Am J Pathol 156:1157-1163
52. Rubin BP, Singer S, Tsao C, Duensing A, Lux ML, Ruiz R, Hibbard MK, Chen C-J, Xiao S, Tuveson DA, Demetri GD, Fletcher CDM, Fletcher JA (2001) KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 61:8118-8121
53. Rudolph P, Gloeckner K, Parwaresch R, Harms D, Schmidt D (1998) Immunophenotype, proliferation, DNA ploidy, and biological behaviour of gastrointestinal stromal tumors: a multivariate clinicopathologic study. Hum Pathol 29:791-800
54. Sakurai S, Fukasawa T, Chong JM, Tanaka A, Fukayama M (1999a) Embryonic form of smooth muscle myosin heavy chain (Smemb/MHC-B) in gastrointestinal stromal tumor and interstitial cells of Cajal. Am J Pathol 154:23-28
55. Sakurai S, Fukasawa T, Chong JM, Tanaka A, Fukayama M (1999b) C-kit gene abnormalities in gastrointestinal stromal tumors (tumors of interstitial cells of Cajal). Jpn J Cancer Res 90:1321-1328
56. Sarlomo-Rikala M, El-Rifai W, Andersson L, Miettinen M, Knuutila S (1998a) Different patterns of DNA copy number changes in gastrointestinal stromal tumors, leiomyomas and schwannomas. Hum Pathol 29:476-481
57. Sarlomo-Rikala M, Kovatich AJ, Barusevisius A, Miettinen M (1998b) CD117. A sensitive marker for gastrointestinal stromal tumors that is more specific than CD34. Mod Pathol 11:728-734
58. Sbaschnig RJ, Cunningham RE, Sobin LH et al. (1994) Proliferating-cell nuclear antigen immunohistochemistry in the evaluation of gastrointestinal smooth-muscle tumors. Mod Pathol 7:780-783
59. Schmidt H, Würl P, Taubert H, Meye A, Bache M, Holzhausen H-J, Hinze R (1999) Genomic imbalances of 7p and 17q in malignant peripheral nerve sheath tumors are clinically relevant. Genes Chromosomes Cancer 25:205-211
60. Sreekantaiah C, Davis JR, Sandberg AA (1993) Chromosomal abnormalities in leio-myosarcomas. Am J Pathol 142:293-305
61. Taniguchi M, Nishida T, Hirota S, Isozaki K, Ito T, Nomura T, Matsuda H, Kitamura Y (1999) Effect of c-kit mutations on prognosis of gastrointestinal stromal tumors. Cancer Res 59:4297-4300
62. Tsujimura T, Makiishi-Shimobayashi C et al. (2001) Expression of the intermediate filament nestin in gastrointestinal stromal tumors and interstitial cells of Cajal. Am J Pathol 158:817-823
63. Tworek JA, Appelman HD, Singleton TP et al. (1997) Stromal tumors of the jejunum and ileum. Mod Pathol 10:200-209
64. Tworek JA, Goldblum JR, Weiss SW, Greenson JK, Appelman HD (1999a) Stromal tumors of the abdominal colon. A clinicopathologic study of 20 cases. Am J Surg Pathol 23:937-945
65. Tworek JA, Goldblum JR, Weiss SW, Greenson JK, Appelman HD (1999b) Stromal tumors of the anorectum. Am J Surg Pathol 23:946-954
66. Wardelmann E, Neidt I, Bierhoff E et al. (2002) C-kit mutations in gastrointestinal stromal tumors occur preferentially in the spindle rather than in the epithelioid variant. Mod Pathol 15:125-136