Pleomorphic Characteristics of a Germ-Line KIT Mutation in a Large Kindred with Gastrointestinal Stromal Tumors, Hyperpigmentation, and Dysphagia

Clinical Cancer Research

Volumn 10, Issue 4, 2004, Pages 1250-1254

  Robson, Mark E ^a,d   Glogowski, Emily ^a   Sommer, Gunhild ^d   Antonescu, Cristina R ^c,d   Nafa, Khedoudja ^a   Maki, Robert G ^b   Ellis, Nathan ^a   Besmer, Peter ^d,e   Brennan, Murray ^d   Offit, Kenneth ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b Gastrointestinal Oncology Service   (United States)

^c Department of Pathology ^*  (United States)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^e Weill Cornell Graduate School of Biomedical Sciences   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH FACTOR RECEPTOR; STEM CELL FACTOR; STEM CELL FACTOR RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CANCER SUSCEPTIBILITY; CASE REPORT; DYSPHAGIA; FAMILIAL DISEASE; FEMALE; GASTROINTESTINAL HEMORRHAGE; GASTROINTESTINAL STROMAL TUMOR; GENE ACTIVATION; GENE MUTATION; GENETIC ASSOCIATION; GERM LINE; HUMAN; HYPERPIGMENTATION; MALE; METASTASIS; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; SOMATIC MUTATION; SYNDROME; URTICARIA PIGMENTOSA;

AGE FACTORS; CELL MEMBRANE; DEGLUTITION DISORDERS; FAMILY HEALTH; FEMALE; GASTROINTESTINAL NEOPLASMS; GERM-LINE MUTATION; HUMANS; HYPERPIGMENTATION; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-KIT; TIME FACTORS;

EID: 12144286747     PISSN: 10780432     EISSN: None     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-03-0110     Document Type: Article

References (23)

1. 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.
2. Chen, H., Hirota, S., Isozaki, K., Sun, H., Ohashi, A., Kinoshita, K., O'Brien, P., Kapusta, L., Dardick, I., Obayashi, T., et al. Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours. Gut, 51: 793-796, 2002.
3. Hirota, S., Isozaki, K., Moriyama, Y., Hashimoto, K., Nishida, T., Ishiguro, S., Kawano, K., Hanada, M., Kurata, A., Takeda, M., et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science (Wash. DC), 279: 577-580, 1998.
4. DeMatteo, R. P., Heinrich, M. C., El-Rifai, W. M., and Demetri, G. Clinical management of gastrointestinal stromal tumors: before and after STI-571. Hum. Pathol., 33: 466-477, 2002.
5. Demetri, G. D., Von Mehren, M., Blanke, C. D., Van den Abbeele, A. D., Eisenberg, B., Roberts, P. J., Heinrich, M. C., Tuveson, D. A., Singer, S., Janicek, M., et al. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N. Engl. J. Med., 347: 472-480, 2002.
6. Fletcher, C. D., Berman, J. J., Corless, C., Gorstein, F., Lasota, J., Longley, B. J., Miettinen, M., O'Leary, T. J., Remotti, H., Rubin, B. P., et al. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum. Pathol., 33: 459-465, 2002.
7. 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.
8. 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.
9. 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.
10. Lux, M. L., Rubin, B. P., Biase, T. L., Chen, C. J., Maclure, T., Demetri, G., Xiao, S., Singer, S., Fletcher, C. D., and Fletcher, J. A. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am. J. Pathol., 156: 791-795, 2000.
11. 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., et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res., 61: 8118-8121, 2001.
12. 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.
13. Sommer, G., Agosti, V., Ehlers, I., Rossi, F., Corbacioglu, S., Farkas, J., Moore, M., Manova, K., Antonescu, C. R., and Besmer, P. Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. Proc. Natl. Acad. Sci. USA, 100: 6706-6711, 2003.
14. Beghini, A., Tibiletti, M. G., Roversi, G., Chiaravalli, A. M., Serio, G., Capella, C., and 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.
15. 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.
16. Hirota, S., Nishida, T., Isozaki, K., Taniguchi, M., Nishikawa, K., Ohashi, A., Takabayashi, A., Obayashi, T., Okuno, T., Kinoshita, K., et al. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. Gastroenterology, 122: 1493-1499, 2002.
17. 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.
18. 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.
19. Nishida, T., Hirota, S., Taniguchi, M., Hashimoto, K., Isozaki, K., Nakamura, H., Kanakura, Y., Tanaka, T., Takabayashi, A., et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat. Genet., 19: 323-324, 1998.
20. 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.
21. Marshall, J. B., Diaz-Aris, 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.
22. Spritz, R. A., Giebel, L. B., and Holmes, S. A. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am. J. Hum. Genet., 50: 261-269, 1992.
23. Picco, M. F., Goodman, S., Reed, J., and Bayless, T. M. Methodologic pitfalls in the determination of genetic anticipation: the case of Crohn disease. Ann. Intern. Med., 134: 1124-1129, 2001.