Prognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumors: A meta-analysis

World Journal of Surgical Oncology

Volumn 12, Issue 1, 2014, Pages

  Zong, Liang ^a,b   Chen, Ping ^a  

^a YANGZHOU UNIVERSITY   (China)

^b UNIVERSITY OF TOKYO   (Japan)

Author keywords

Gastrointestinal stromal tumors; KIT; Meta analysis; PDGFRA; Prognosis

Indexed keywords

PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; STEM CELL FACTOR RECEPTOR; IMATINIB; TYROSINE KINASE RECEPTOR; TYROSINE KINASE RECEPTOR KIT; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; ARTICLE; CANCER PROGNOSIS; CANCER RISK; CAUSE SPECIFIC SURVIVAL; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; HETEROZYGOSITY; HIGH RISK PATIENT; HISTOPATHOLOGY; HUMAN; METASTASIS; MITOSIS RATE; OUTCOME ASSESSMENT; OVERALL SURVIVAL; PRIMARY TUMOR; TUMOR GROWTH; TUMOR RECURRENCE; TUMOR VOLUME; FOLLOW UP; LIVER METASTASIS; NATIONAL HEALTH ORGANIZATION; PROGNOSIS; PUBLISHING; SPINDLE CELL; SYSTEMATIC REVIEW; CASE CONTROL STUDY; COMPLICATION; GASTROINTESTINAL STROMAL TUMORS; GENETICS; META ANALYSIS; MULTIMODALITY CANCER THERAPY; MUTATION; NEOPLASM RECURRENCE, LOCAL; SURVIVAL RATE;

CASE-CONTROL STUDIES; COMBINED MODALITY THERAPY; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MUTATION; NEOPLASM RECURRENCE, LOCAL; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; SURVIVAL RATE;

EID: 84901976682     PISSN: None     EISSN: 14777819     Source Type: Journal    
DOI: 10.1186/1477-7819-12-71     Document Type: Article

References (55)

1. George S, Desai J. Management of gastrointestinal stromal tumors in the era of tyrosine kinase inhibitors. Curr Treat Options Oncol 2002, 3(6):489-496. 10.1007/s11864-002-0068-2, 12392638.
2. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998, 279(5350):577-580. 10.1126/science.279.5350.577, 9438854.
3. Daniels M, Lurkin I, Pauli R, Erbstösser E, Hildebrandt U, Hellwig K, Zschille U, Lüders P, Krüger G, Knolle J, Stengel B, Prall F, Hertel K, Lobeck H, Popp B, Theissig F, Wünsch P, Zwarthoff E, Agaimy A, Schneider-Stock R. Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST). Cancer Lett 2011, 312(1):43-54. 10.1016/j.canlet.2011.07.029, 21906875.
4. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD, Fletcher JA. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003, 299(5607):708-710. 10.1126/science.1079666, 12522257.
5. Hirota S, Ohashi A, Nishida T, Isozaki K, Kinoshita K, Shinomura Y, Kitamura Y. Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology 2003, 125(3):660-667. 10.1016/S0016-5085(03)01046-1, 12949711.
6. Miettinen M, Lasota J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol 2006, 23(2):70-83. 10.1053/j.semdp.2006.09.001, 17193820.
7. Fletcher CD, Berman JJ, Corless C, Gorstein F, Lasota J, Longley BJ, Miettinen M, O'Leary TJ, Remotti H, Rubin BP, Shmookler B, Sobin LH, Weiss SW. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum Pathol 2002, 33(5):459-465. 10.1053/hupa.2002.123545, 12094370.
8. Miettinen M, Lasota J. Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch Pathol Lab Med 2006, 130(10):1466-1478.
9. National Comprehensive Cancer Network (NCCN) NCCN Clinical Practice Guidelines in Oncology: Soft Tissue Sarcoma V.2.2009 2009, Fort Washington, PA: NCCN, National Comprehensive Cancer Network (NCCN).
10. Lasota J, Vel Dobosz AJ, Wasag B, Wozniak A, Kraszewska E, Michej W, Ptaszynski K, Rutkowski P, Sarlomo-Rikala M, Steigen SE, Schneider-Stock R, Stachura J, Chosia M, Ogun G, Ruka W, Siedlecki JA, Miettinen M. Presence of homozygous KIT exon 11 mutations is strongly associated with malignant clinical behavior in gastrointestinal stromal tumors. Lab Invest 2007, 87(10):1029-1041. 10.1038/labinvest.3700628, 17632543.
11. Lasota J, Dansonka-Mieszkowska A, Sobin LH, Miettinen M. A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Invest 2004, 84(7):874-883. 10.1038/labinvest.3700122, 15146165.
12. Corless CL, Schroeder A, Griffith D, Town A, McGreevey L, Harrell P, Shiraga S, Bainbridge T, Morich J, Heinrich MC. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005, 23(23):5357-5364. 10.1200/JCO.2005.14.068, 15928335.
13. Chen P, Zong L, Zhao W, Shi L. Efficacy evaluation of imatinib treatment in patients with gastrointestinal stromal tumors: a meta-analysis. World J Gastroenterol 2010, 16(33):4227-4232. 10.3748/wjg.v16.i33.4227, 2932930, 20806443.
14. Taniguchi M, Nishida T, Hirota S, Isozaki K, Ito T, Nomura T, Matsuda H, Kitamura Y. Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res 1999, 59(17):4297-4300.
15. Sakurai S, Fukasawa T, Chong JM, Tanaka A, Fukayama M. C-kit gene abnormalities in gastrointestinal stromal tumors (tumors of interstitial cells of Cajal). Jpn J Cancer Res 1999, 90(12):1321-1328. 10.1111/j.1349-7006.1999.tb00715.x, 10665649.
16. Yamamoto H, Oda Y, Kawaguchi K, Nakamura N, Takahira T, Tamiya S, Saito T, Oshiro Y, Ohta M, Yao T, Tsuneyoshi M. c-kit and PDGFRA mutations in extragastrointestinal stromal tumor (gastrointestinal stromal tumor of the soft tissue). Am J Surg Pathol 2004, 28(4):479-488. 10.1097/00000478-200404000-00007, 15087667.
17. Lin SC, Liu CL, Wang TI, Chang WS, Tzen CY, Huang MJ. Clinical implications of C-kit gene mutation in patients with large gastrointestinal stromal tumors. J Gastroenterol Hepatol 2006, 21(10):1604-1608. 10.1111/j.1440-1746.2006.04322.x, 16928224.
18. Kim TW, Lee H, Kang YK, Choe MS, Ryu MH, Chang HM, Kim JS, Yook JH, Kim BS, Lee JS. Prognostic significance of c-kit mutation in localized gastrointestinal stromal tumors. Clin Cancer Res 2004, 10(9):3076-3081. 10.1158/1078-0432.CCR-03-0581, 15131046.
19. Liu XH, Bai CG, Xie Q, Feng F, Xu ZY, Ma DL. Prognostic value of KIT mutation in gastrointestinal stromal tumors. World J Gastroenterol 2005, 11(25):3948-3952.
20. Tzen CY, Wang MN, Mau BL. Spectrum and prognostication of KIT and PDGFRA mutation in gastrointestinal stromal tumors. Eur J Surg Oncol 2008, 34(5):563-568. 10.1016/j.ejso.2007.04.005, 17532173.
21. Cho S, Kitadai Y, Yoshida S, Tanaka S, Yoshihara M, Yoshida K, Chayama K. Deletion of the KIT gene is associated with liver metastasis and poor prognosis in patients with gastrointestinal stromal tumor in the stomach. Int J Oncol 2006, 28(6):1361-1367.
22. Keun Park C, Lee EJ, Kim M, Lim HY, Choi DI, Noh JH, Sohn TS, Kim S, Kim MJ, Lee HK, Kim KM. Prognostic stratification of high-risk gastrointestinal stromal tumors in the era of targeted therapy. Ann Surg 2008, 247(6):1011-1018. 10.1097/SLA.0b013e3181724f9d, 18520229.
23. Andersson J, Bümming P, Meis-Kindblom JM, Sihto H, Nupponen N, Joensuu H, Odén A, Gustavsson B, Kindblom LG, Nilsson B. Gastrointestinal stromal tumors with KIT exon 11 deletions are associated with poor prognosis. Gastroenterology 2006, 130(6):1573-1581. 10.1053/j.gastro.2006.01.043, 16697720.
24. Haller F, Gunawan B, von Heydebreck A, Schwager S, Schulten HJ, Wolf-Salgó J, Langer C, Ramadori G, Sültmann H, Füzesi L. Prognostic role of E2F1 and members of the CDKN2A network in gastrointestinal stromal tumors. Clin Cancer Res 2005, 11(18):6589-6597. 10.1158/1078-0432.CCR-05-0329, 16166437.
25. Steigen SE, Eide TJ, Wasag B, Lasota J, Miettinen M. Mutations in gastrointestinal stromal tumors: a population-based study from Northern Norway. APMIS 2007, 115(4):289-298. 10.1111/j.1600-0463.2007.apm_587.x, 17504295.
26. Zheng S, Huang KE, Tao DY, Pan YL. Gene mutations and prognostic factors analysis in extragastrointestinal stromal tumor of a Chinese three-center study. J Gastrointest Surg 2011, 15(4):675-681. 10.1007/s11605-010-1292-x, 21274753.
27. Wardelmann E, Losen I, Hans V, Neidt I, Speidel N, Bierhoff E, Heinicke T, Pietsch T, Büttner R, Merkelbach-Bruse S. Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer 2003, 106(6):887-895. 10.1002/ijc.11323, 12918066.
28. Martín J, Poveda A, Llombart-Bosch A, Ramos R, López-Guerrero JA, García Del Muro J, Maurel J, Calabuig S, Gutierrez A, de Sande JLG, Martínez J, De Juan A, Laínez N, Losa F, Alija V, Escudero P, Casado A, García P, Blanco R, Buesa JM., Spanish Group for Sarcoma Research Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol 2005, 23(25):6190-6198. 10.1200/JCO.2005.19.554, 16135486, Spanish Group for Sarcoma Research.
29. Penzel R, Aulmann S, Moock M, Schwarzbach M, Rieker RJ, Mechtersheimer G. The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated. J Clin Pathol 2005, 58(6):634-639. 10.1136/jcp.2004.021766, 1770686, 15917417.
30. Agaram NP, Baren A, Arkun K, Dematteo RP, Besmer P, Antonescu CR. Comparative ultrastructural analysis and KIT/PDGFRA genotype in 125 gastrointestinal stromal tumors. Ultrastruct Pathol 2006, 30(6):443-452. 10.1080/01913120600854186, 17182437.
31. Lasota J, Jasinski M, Sarlomo-Rikala M, Miettinen M. 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 1999, 154(1):53-60. 10.1016/S0002-9440(10)65250-9, 1853448, 9916918.
32. Lasota J, Kopczynski J, Sarlomo-Rikala M, Schneider-Stock R, Stachura T, Kordek R, Michal M, Boltze C, Roessner A, Stachura J, Miettinen M. KIT 1530ins6 mutation defines a subset of predominantly malignant gastrointestinal stromal tumors of intestinal origin. Hum Pathol 2003, 34(12):1306-1312. 10.1016/S0046-8177(03)00407-6, 14691917.
33. 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 follow-up. Am J Surg Pathol 2006, 30(4):477-489. 10.1097/00000478-200604000-00008, 16625094.
34. Antonescu CR, Sommer G, Sarran L, Tschernyavsky SJ, Riedel E, Woodruff JM, Robson M, Maki R, Brennan MF, Ladanyi M, DeMatteo RP, Besmer P. 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(9):3329-3337.
35. Yamaguchi M, Miyaki M, Iijima T, Matsumoto T, Kuzume M, Matsumiya A, Endo Y, Sanada Y, Kumada K. Specific mutation in exon 11 of c-kit proto-oncogene in a malignant gastrointestinal stromal tumor of the rectum. J Gastroenterol 2000, 35(10):779-783. 10.1007/s005350070038, 11063223.
36. Gong L, Li YH, Zhao HD, Zhao JY, Zhang W. The clinicopathologic observation, c-KIT gene mutation and clonal status of gastrointestinal stromal tumor in the sacrum. BMC Gastroenterol 2009, 9:43. 10.1186/1471-230X-9-43, 2702297, 19500398.
37. Wardelmann E, Merkelbach-Bruse S, Pauls K, Thomas N, Schildhaus HU, Heinicke T, Speidel N, Pietsch T, Buettner R, Pink D, Reichardt P, Hohenberger P. Polyclonal evolution of multiple secondary KIT mutations in gastrointestinal stromal tumors under treatment with imatinib mesylate. Clin Cancer Res 2006, 12(6):1743-1749. 10.1158/1078-0432.CCR-05-1211, 16551858.
38. Koyama T, Nimura H, Kobayashi K, Marushima H, Odaira H, Kashimura H, Mitsumori N, Yanaga K. Recurrent gastrointestinal stromal tumor (GIST) of the stomach associated with a novel c-kit mutation after imatinib treatment. Gastric Cancer 2006, 9(3):235-239. 10.1007/s10120-006-0368-5, 16952044.
39. Kikuchi H, Yamamoto M, Hiramatsu Y, Baba M, Ohta M, Kamiya K, Tanaka T, Suzuki S, Sugimura H, Kitagawa M, Kanai T, Kitayama Y, Kanda T, Nishikura K, Konno H. Effect of loss of heterozygosity of the c-kit gene on prognosis after hepatectomy for metastatic liver gastrointestinal stromal tumors. Cancer Sci 2007, 98(11):1734-1739. 10.1111/j.1349-7006.2007.00592.x, 17894554.
40. Zheng S, Chen LR, Wang HJ, Chen SZ. Analysis of mutation and expression of c-kit and PDGFR-alpha gene in gastrointestinal stromal tumor. Hepatogastroenterology 2007, 54(80):2285-2290.
41. Zheng S, Pan YL, Tao DY, Wang JL, Huang KE. Secondary C-kit mutation is a cause of acquired resistance to imatinib in gastrointestinal stromal tumor. Scand J Gastroenterol 2009, 44(6):760-763. 10.1080/00365520802647459, 19096980.
42. Isaac JC, Willmore C, Holden JA, Layfield LJ. A c-kit-negative gastrointestinal stromal tumor with a platelet-derived growth factor receptor alpha mutation. Appl Immunohistochem Mol Morphol 2006, 14(1):52-56. 10.1097/01.pai.0000156866.84350.ec, 16540731.
43. Fukasawa T, Chong JM, Sakurai S, Koshiishi N, Ikeno R, Tanaka A, Matsumoto Y, Hayashi Y, Koike M, Fukayama M. Allelic loss of 14q and 22q, NF2 mutation, and genetic instability occur independently of c-kit mutation in gastrointestinal stromal tumor. Jpn J Cancer Res 2000, 91(12):1241-1249. 10.1111/j.1349-7006.2000.tb00910.x, 11123422.
44. Shibusawa Y, Tamura A, Mochiki E, Kamisaka K, Kimura H, Ishikawa O. c-kit Mutation in generalized lentigines associated with gastrointestinal stromal tumor. Dermatology 2004, 208(3):217-220. 10.1159/000077302, 15118370.
45. Chen LL, Holden JA, Choi H, Zhu J, Wu EF, Jones KA, Ward JH, Andtbacka RH, Randall RL, Scaife CL, Hunt KK, Prieto VG, Raymond AK, Zhang W, Trent JC, Benjamin RS, Frazier ML. Evolution from heterozygous to homozygous KIT mutation in gastrointestinal stromal tumor correlates with the mechanism of mitotic nondisjunction and significant tumor progression. Mod Pathol 2008, 21(7):826-836. 10.1038/modpathol.2008.46, 18488000.
46. Kuroda N, Tanida N, Hirota S, Daum O, Hes O, Michal M, Lee GH. Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women. Ann Diagn Pathol 2011, 15(5):358-361. 10.1016/j.anndiagpath.2010.05.003, 20952281.
47. Maeyama H, Hidaka E, Ota H, Minami S, Kajiyama M, Kuraishi A, Mori H, Matsuda Y, Wada S, Sodeyama H, Nakata S, Kawamura N, Hata S, Watanabe M, Iijima Y, Katsuyama T. Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene. Gastroenterology 2001, 120(1):210-215. 10.1053/gast.2001.20880, 11208730.
48. Namgung H. Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1. J Korean Surg Soc 2011, 81(4):276-280. 10.4174/jkss.2011.81.4.276, 3219854, 22111084.
49. Lippai N, Füle T, Németh T, Benedek G, Mályi I, Pádi E, Sápi Z. Keratin-positive gastrointestinal stromal tumor of the stomach mimicking gastric carcinoma: diagnosis confirmed by c-kit mutation analysis. Diagn Mol Pathol 2008, 17(4):241-244. 10.1097/PDM.0b013e31816184c6, 18382354.
50. Yasuoka R, Sakakura C, Shimomura K, Fujita Y, Nakanishi M, Aragane H, Hagiwara A, Bamba M, Abe T, Yamagishi H. Mutations in exon 11 of the c-kit gene in a myogenic tumor and a neurogenic tumor as well as in gastrointestinal stromal tumors. Utility of c-kit mutation as a prognostic biomarker for gastrointestinal mesenchymal tumor. Dig Surg 2003, 20(3):183-191. 10.1159/000070384, 12759497.
51. Chou CC, Chou MJ, Tzen CY. Prediction of KIT mutation in gastrointestinal stromal tumors by the immunoprofile of the tumor cells. J Formos Med Assoc 2010, 109(1):25-31. 10.1016/S0929-6646(10)60018-6, 20123583.
52. Miselli FC, Casieri P, Negri T, Orsenigo M, Lagonigro MS, Gronchi A, Fiore M, Casali PG, Bertulli R, Carbone A, Pierotti MA, Tamborini E, Pilotti S. c-Kit/PDGFRA gene status alterations possibly related to primary imatinib resistance in gastrointestinal stromal tumors. Clin Cancer Res 2007, 13(8):2369-2377. 10.1158/1078-0432.CCR-06-1745, 17438095.
53. Hostein I, Debiec-Rychter M, Olschwang S, Bringuier PP, Toffolati L, Gonzalez D, Forget S, Escande F, Morzuch L, Tamborini E, Faur N, Pilotti S, Dei Tos P, Emile JF, Coindre JM. A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours. J Gastroenterol 2011, 46(5):586-594. 10.1007/s00535-011-0375-0, 21286759.
54. Haller F, Cortis J, Helfrich J, Cameron S, Schüler P, Schwager S, Gunawan B, Füzesi L, Agaimy A. Epithelioid/mixed phenotype in gastrointestinal stromal tumors with KIT mutation from the stomach is associated with accelerated passage of late phases of the cell cycle and shorter disease-free survival. Mod Pathol 2011, 24(2):248-255. 10.1038/modpathol.2010.188, 20834236.
55. Zong L, Chen P, Xu Y. Correlation between P53 expression and malignant risk of gastrointestinal stromal tumors: evidence from 9 studies. Eur J Surg Oncol 2012, 38(3):189-195. 10.1016/j.ejso.2011.12.012, 22206703.