Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors

Clinical Cancer Research

Volumn 9, Issue 9, 2003, Pages 3329-3337

  Antonescu, Cristina R ^a   Sommer, Gunhild ^a   Sarran, Lisa ^a   Tschernyavsky, Sylvia J ^a   Riedel, Elyn ^a   Woodruff, James M ^a   Robson, Mark ^a   Maki, Robert ^a   Brennan, Murray F ^a   Ladanyi, Marc ^a   DeMatteo, Ronald P ^a   Besmer, Peter ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; CANCER RECURRENCE; DISEASE CONTROL; EXON; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOREACTIVITY; MAJOR CLINICAL STUDY; MALE; ONCOGENE C KIT; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DOMAIN; RECTUM TUMOR; RETROPERITONEAL TUMOR; SCHOOL CHILD; SMALL INTESTINE TUMOR; STOMACH TUMOR; TUMOR VOLUME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GASTROINTESTINAL NEOPLASMS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; POINT MUTATION; PROGNOSIS; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS C-KIT; SEQUENCE HOMOLOGY, AMINO ACID; TREATMENT OUTCOME;

EID: 10744225271     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (50)

1. Rubin, B. P., Fletcher, J. A., and Fletcher, C. D. M. Molecular insights into the histogenesis and pathogenesis of gastrointestinal stromal tumors. Int. J. Surg. Pathol., 8: 5-10, 2000.
2. Kindblom, L. G., Remotti, H. E., Aldenborg, F., and Meis-Kindblom, J. M. Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am. J. Pathol., 152: 1259-1269, 1998.
3. Besmer, P. The kit ligand encoded at the murine Steel locus: a pleiotropic growth and differentiation factor. Curr. Opin. Cell Biol., 3: 939-946, 1991.
4. Besmer, P. Kit-ligand-stem cell factor. Colony-stimulating factors. Molecular and Cell Biology. Ed. 2, pp. 369-404. New York: Marcel Dekker. 1997.
5. Sanders, K. M., Ordog, T., Koh, S. D., Torihashi, S., and Ward, S. M. Development and plasticity of interstitial cells of Cajal. Neurogastroenterol. Motil., 11: 311-338, 1999.
6. Russell, E. S. Hereditary anemias of the mouse: a review for geneticists. Adv. Genet., 20: 357-459, 1979.
7. Ward, S. M., Burns, A. J., Torihashi, S., and Sanders, K. M. Mutation of the proto-oncogene c-kit blocks development of interstitial cells and electrical rhythmicity in murine intestine. J. Physiol., 480: 91-97, 1994.
8. Hirota, S., Isozaki, K., Moriyama, Y., Hashimoto, K., Nishida, T., Ishiguro, S., Kawano, K., Hanada, M., Kurata, A., Takeda, M., Muhammad, T. G., Matsuzawa, Y., Kanakura, Y., Shinomura, Y., and Kitamura, Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science (Wash. DC), 279: 577-580, 1998.
9. Miettinen, M., Sarloma-Rikala, M., and Lasota, J. Gastrointestinal stromal tumors: recent advances in understanding of their biology. Hum. Pathol., 30: 1213-1220, 1999.
10. Fletcher, C. D. M., Berman, J. J., Corless, C., Gorstein, F., Lasota, J., Longley, B. J., Miettinen, M., O'Leary, T. J., Remotti, H., Rubin, B., Shmookler, B., Sobin, L. H., and Weiss, S. W. Diagnosis of gastrointestinal stromal tumor. Hum. Pathol., 33: 459-465, 2002.
11. Taniguchi, M., Nishida, T., Hirota, S., Isozaki, K., Ito, T., Nomura, T., Matsuda, H., and Kitamura, Y. Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res., 59: 4297-4300, 1999.
12. Ernst, S. I., Hubbs, A. E., Przygodzki, R. M., Emory, T. S., Sobin, L. H., and O'Leary, T. J. KIT mutation portends poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab. Investig., 78: 1633-1636, 1998.
13. Lux, M. L., Rubin, B. P., Biase, T. L., Chen, C. J., Maclure, T., Demetri, G., Xiao, S., Singer, S., Fletcher, C. D. M., and Fletcher, J. A. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am. J. Pathol., 156: 791-795, 2000.
14. Lasota, J., Wozniak, A., Sarlomo-Rikala, M., Rys, J., Kordek, R., Nassar, A., Sobin, L. H., and Miettinen, M. Mutations in exons 9 and 13 of KIT gene are rare events in gastrointestinal stromal tumors. Am. J. Pathol., 157: 1091-1095, 2000.
15. Andersson, J., Sjogren, H., Meis-Kindblom, J. M., Stenman, G., Aman, P., and Kindblom, L-G. The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumor. Am. J. Pathol., 160: 15-22, 2002.
16. Heinrich, M. C., Corless, C. L., Duensing, A., McGreevey, L., Chen, C. J., Joseph, N., Singer, S., Griffith, D. J., Haley, A., Town, A., Demetri, G. D., Fletcher, C. D., and Fletcher, J. A. PDGFRA activating mutations in gastrointestinal stromal tumors. Science (Wash. DC), 299: 708-710, 2003.
17. Spritz, R. A., Giebel, L. B., and Holmes, S. A. Dominant negative and loss of function mutations of the c-kit proto-oncogene in human piebaldism. Am. J. Hum. Genet., 50: 261-269, 1992.
18. Besmer, P., Murphy, J. E., George, P. C., Qiu, F. H., Bergold, P. J., Lederman, L., Snyder, H. W., Broudeur, D., Zuckerman, E. E., and Hardy, W. D. A. new acute transforming feline retrovirus and relationship of its oncogene v-kit with the protein kinase gene family. Nature (Lond.), 320: 415-421, 1986.
19. Qiu, F. H., Ray, P., Brown, K., Barker, P. E., Jhanwar, S., Ruddle, F. H., and Besmer, P. Primary structure of c-kit: relationship with the CSF-1/PDGF receptor kinase family-oncogenic activation of v-kit involves deletion of extracellular domain and C terminus. EMBO J., 7: 1003-1011, 1988.
20. Kanakura, Y., Furitsu, T., Tsujimura, T., Butterfield, J. H., Ashman, L. K., Ikeda, H., Kitayama, H., Kanayama, Y., Matsuzawa, Y., and Kitamura, Y. Activating mutations of the c-kit proto-oncogene in a human mast cell leukemia cell line. Leukemia, 8 (Suppl. 1): S18-S22, 1994.
21. Rubin, B. P., Singer, S., Tsao, C., Duensing, A., Lux, M. L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., Tuveson, D. A., Demetri, G. D., Fletcher, C. D., and Fletcher, J. A. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res., 61: 8118-8121, 2001.
22. Lasota, J., Jasinski, M., Sarlomo-Rikala, M., and 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., 154: 53-60, 1999.
23. Moskaluk, C. A., Tian, Q., Marshall, C. R., Rumpel, C. A., Franquemont, D. W., and Frierson, H. F., Jr. Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors. Oncogene, 18: 1897-1902, 1999.
24. Emile, J. F., Lemoine, A., Bienfait, N., Terrier, P., Azoulay, D., and Debuire, B. Length analysis of polymerase chain reaction products: a sensitive and reliable technique for the detection of mutations in KIT exon 11 in gastrointestinal stromal tumors. Diagn. Mol. Pathol., 11: 107-112, 2002.
25. Corless, C. L., McGreevey, L., Haley, A., Town, A., and Heinrich, M. C. KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am. J. Pathol., 160: 1567-1572, 2002.
26. Miettinen, M., Furlong, M., Sarloma-Rikala, M., Burke, A., Sobin, L. H., and Lasota, J. Gastrointestinal stromal tumors, intramural leiomyomas, and leiomyosarcomas in the rectum and anus. A clinico-pathologic, immunohistochemical, and molecular genetic study of 144 cases. Am. J. Surg. Pathol., 23: 1121-1133, 2001.
27. Wardelmann, E., Neidt, I., Bierhoff, E., Speidel, N., Manegold, C., Fischer, H-P., Pfeifer, U., and Pietsch, T. c-kit mutations in gastrointestinal stromal tumors occur preferentially in the spindle rather than in the epithelioid cell variant. Mod. Pathol., 15: 125-136, 2002.
28. London, C. A., Galli, S. J., Yuuki, T., Hu, Z. Q., Helfand, S. C., and Geissler, E. N. Spontaneous canine mast cell tumors express tandem duplications in the proto-oncogene c-kit. Exp. Hematol., 27: 689-697, 1999.
29. Ma, Y., Longley, B. J., Wang, X., Blount, J. L., Langley, K., and Caughey, G. H. Clustering of activating mutations in c-KIT's juxtamembrane coding region in canine mast cell neoplasms. J. Investig Dermatol., 112: 165-170, 1999.
30. Mizuki, M., Fenski, R., Halfter, H., Matsumura, I., Schmidt, R., Muller, C., Gruning, W., Kratz-Albers, K., Serve, S., Steur, C., Buchner, T., Kienast, J., Kanakura, Y., and Berdel, W. E., Serve, H. Flt3 mutations from patients with acute myeloid leukemia induce transformation of 32D cells mediated by the Ras and STAT5 pathways. Blood, 96: 3907-3914, 2000.
31. Fenski, R., Flesch, K., Serve, S., Mizuki, M., Oelmann, E., Kratz-Albers, K., Kienast, J., Leo, R., Schwartz, S., Berdel, W. E., and Serve, H. Constitutive activation of FLT3 in acute myeloid leukaemia and its consequences for growth of 32D cells. Br. J. Haematol., 108: 322-330, 2000.
32. Tian, Q., Frierson, H. F., Krystal, G. W., and Moskaluk, C. A. Activating c-kit mutations in human germ cell tumors. Am. J. Pathol., 154: 1643-1647, 1999.
33. Worobec, A. S., Semere, T., Nagata, H., and Metcalfe, D. D. Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. Cancer (Phila.), 83: 2120-2129, 1997.
34. Sakurai, S., Oguni, S., Hironaka, M., Fukayama, M., Morinaga, S., and Saito, K. Mutations in c-kit exons 9 and 13 in gastrointestinal stromal tumors among Japanese. Jpn. J. Cancer Res., 92: 494-498, 2001.
35. Hirota, S., Nishida, T., Isozaki, K., Taniguchi, M., Nakamura, J., Okazaki, T., and Kitamura, Y. Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumors. J. Pathol., 193: 505-510, 2001.
36. Miettinen, M., Sarloma-Rikala, M., Sobin, L. H., and Lasota, J. Esophageal stromal tumors: a clinicopathologic, immunohistochemical, and molecular genetic study of seventeen cases and comparison with esophageal leiomyomas and leiomyosarcomas. Am. J. Surg. Pathol., 24: 211-222, 2000.
37. Heinrich, M. C., Rubin, B. P., Longley, B. J., and Fletcher, J. A. Biology and genetic aspects of gastrointestinal stromal tumors: KIT activation and cytogenetic alterations. Hum. Pathol., 33: 484-495, 2002.
38. Debiec-Rychter, M., Lasota, J., Sarlomo-Rikala, M., Kordek, R., and Miettinen, M. Chromosomal aberrations in malignant gastrointestinal stromal tumors: correlation with c-KIT gene mutation. Cancer Genet. Cytogenet., 128: 24-30, 2001.
39. Gunawan, B., Bergmann, F., Hoer, J., Langer, C., Schumpelick, V., Becker, H., and Fuzesi, L. Biological and clinical significance of cytogenetic abnormalities in low-risk and high-risk gastrointestinal stromal tumors. Hum. Pathol., 33: 316-321, 2002.
40. Breiner, J. A., Meis-Kindblom, J., Kindblom, L. G., McComb, E., Liu, J., Nelson, M., and Bridge, J. A. Loss of 14q and 22q in gastrointestinal stromal (pacemaker cell) tumors. Cancer Genet. Cytogenet., 120: 111-116, 2000.
41. Debiec-Rychter, M., Sciot, R., Schoenmakers, E., Dal Cin, P., and Hagemeijer, A. Molecular cytogenetic definition of three distinct chromosome arm 14q deletion intervals in gastrointestinal stromal tumors. Genes Chromosomes Cancer, 32: 26-32, 2001.
42. Trupiano, J. K., Stewart, R. E., Misick, C., Appelman, H. D., and Goldblum, J. R. Gastric stromal tumors: a clinicopathologic study of 77 cases with correlation of features with nonaggressive and aggressive clinical behaviors. Am. J. Surg. Pathol., 26: 705-714, 2002.
43. Singer, S., Rubin, B. P., Lux, M. L., Chen, C. J., Demetri, G. D., Fletcher, C. D., and Fletcher, J. A. Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors. J. Clin. Oncol., 20: 3898-3905, 2002.
44. Nishida, T., Hiroda, S., Taniguchi, M., Hashimoto, K., Isozaki, K., Nakamura, H., Kanakura, Y., Tanaka, T., Takabayashi, A., Matsuda, H., and Kitamura, Y. Familial gastrointestinal stromal tumors with germline mutation of the KIT gene. Nat. Genet., 19: 323-324, 1998.
45. Hirota, S., Okazaki. T., Kitamura, Y., O'Brien, P., Kapusta, L., and Dardick, I. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am. J. Surg. Pathol., 24: 326-327, 2000.
46. O'Brien, P., Kapusta, L., Dardick, I., Axler, J., and Gnidec, A. Multiple familial gastrointestinal autonomic nerve tumors and small intestinal neuronal dysplasia. Am. J. Surg. Pathol., 23: 198-204, 1999.
47. Maeyama, H., Hidaka, E., Ota, H., Minami, S., Kajiyama, M., Kuraishi, A., Mori, H., Matsuda, Y., Wada, S., Sodeyama, H., et al. Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene. Gastroenterology, 120: 210-215, 2001.
48. Beghini, A., Tibiletti, M., Roversi, G., Chiaravalli, A., Serio, G., Capella, C., Larizza, L. Germline mutation in the juxtamembrane domain of the KIT gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer (Phila.), 92: 657-662, 2001.
49. Marshall, J. B., Diaz-Arias, A. A., Bochna, G. S., and Vogele, K. A. Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study. Gastroenterology, 98: 1358-1365, 1990.
50. Isozaki, K., Terris, B., Belghiti, J., Schiffmann, S., Hirota, S., and Vanderwinden, J-M. Germline activating mutation in the kinase domain of kit gene in familial gastrointestinal stromal tumors. Am. J. Pathol., 157: 1581-1585, 2000.