The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Novel V600E BRAF mutations in imatinib‐naive and imatinib‐resistant gastrointestinal stromal tumors
Open accessAbstract
BRAF and NRAS are commonly mutated in cancer and represent the most frequent genetic events in malignant melanoma. More recently, a subset of melanomas was shown to overexpress KIT and harbor KIT mutations. Although most gastrointestinal stromal tumors (GISTs) exhibit activating mutations in either KIT or PDGFRA, about 10% of the cases lack mutations in these genes. It is our hypothesis following the melanoma model that mutations in BRAF or NRAS may play a role in wild‐type GIST pathogenesis. Alterations in RAS/MEK/ERK pathway may also be involved in development of imatinib resistance in GIST, particularly in tumors lacking secondary KIT or PDGFRA mutations. Imatinib‐naive wild‐type GISTs from 61 patients, including 15 children and 28 imatinib‐resistant tumors without secondary KIT mutations were analyzed. Screening for hot spots mutations in BRAF (exons 11 and 15) and NRAS (exons 2 and 3) was performed. A BRAF exon 15 V600E was identified in 3 of 61 GIST patients, who shared similar clinical features, being 49‐ to 55‐years‐old females and having their tumors located in the small bowel. The tumors were strongly KIT immunoreactive and had a high risk of malignancy. An identical V600E BRAF mutation was also identified in one of 28 imatinib resistant GIST lacking a defined mechanism of drug resistance. In conclusion, we identified a primary BRAF V600E mutations in 7% of adult GIST patients, lacking KIT/PDGFRA mutations. The BRAF‐mutated GISTs show predilection for small bowel location and high risk of malignancy. A secondary V600E BRAF mutation could represent an alternative mechanism of imatinib resistance. Kinase inhibitors targeting BRAF may be effective therapeutic options in this molecular GIST subset. © 2008 Wiley‐Liss, Inc.
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Mutations of the BRAF gene in human cancer
Davies, H., Bignell, G. R., Cox, C., Stephens, P., Edkins, S., Clegg, S., Teague, J., Woffendin, H., Garnett, M. J., Bottomley, W., et al. (2002) · Nature · doi:10.1038/nature00766 · Cited by 10,674
Gain-of-Function Mutations of c- kit in Human Gastrointestinal Stromal Tumors
Hirota, S., Isozaki, K., Moriyama, Y., Hashimoto, K., Nishida, T., Ishiguro, S., Kawano, K., Hanada, M., Kurata, A., Takeda, M., et al. (1998) · Science · doi:10.1126/science.279.5350.577 · Cited by 4,490
Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors
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. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020461 · Cited by 4,389
Self-citationDistinct Sets of Genetic Alterations in Melanoma
Curtin, J. A., Fridlyand, J., Kageshita, T., Patel, H. N., Busam, K. J., Kutzner, H., Cho, K.-H., Aiba, S., Bröcker, E.-B., LeBoit, P. E., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa050092 · Cited by 2,747
PDGFRA Activating Mutations in Gastrointestinal Stromal Tumors
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Self-citationKinase Mutations and Imatinib Response in Patients With Metastatic Gastrointestinal Stromal Tumor
Heinrich, M. C., Corless, C. L., Demetri, G. D., Blanke, C. D., von Mehren, M., Joensuu, H., McGreevey, L. S., Chen, C.-J., Van den Abbeele, A. D., Druker, B. J., et al. (2003) · Journal of Clinical Oncology · doi:10.1200/jco.2003.04.190 · Cited by 2,299
Self-citationSomatic Activation of KIT in Distinct Subtypes of Melanoma
Curtin, J. A., Busam, K., Pinkel, D., & Bastian, B. C. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2006.06.2984 · Cited by 1,616
BRAF mutation predicts sensitivity to MEK inhibition
Solit, D. B., Garraway, L. A., Pratilas, C. A., Sawai, A., Getz, G., Basso, A., Ye, Q., Lobo, J. M., She, Y., Osman, I., et al. (2006) · Nature · doi:10.1038/nature04304 · Cited by 1,328
BRAF and RAS mutations in human lung cancer and melanoma.
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KIT activation is a ubiquitous feature of gastrointestinal stromal tumors.
Rubin, B. P., Singer, S., Tsao, C., Duensing, A. U., Lux, M. L., Ruiz, R., Hibbard, M. K., Chen, C. J., Xiao, S., Tuveson, D. A., et al. (2001) · PubMed · Cited by 959
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Cited by
Gastrointestinal stromal tumour
Rubin, B. P., Heinrich, M. C., & Corless, C. L. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60780-6 · Cited by 1,036
Gastrointestinal stromal tumours: origin and molecular oncology
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Ohashi, K., Sequist, L. V., Arcila, M. E., Moran, T., Chmielecki, J., Lin, Y.-L., Pan, Y., Wang, L., de Stanchina, E., Shien, K., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1203530109 · Cited by 441
Receptor Tyrosine Kinase-Targeted Cancer Therapy
Yamaoka, T., Kusumoto, S., Ando, K., Ohba, M., & Ohmori, T. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19113491 · Cited by 297
Kamilaris, C. D. C., & Stratakis, C. A. (2018) · HORMONES · doi:10.1007/s42000-018-0072-y · Cited by 7
Metadata
- Authors
- Agaram, N. P., Wong, G. C., Guo, T., Maki, R. G., Singer, S., DeMatteo, R. P., Besmer, P., & Antonescu, C. R.
- Venue
- Genes, Chromosomes and Cancer
- Publisher
- Wiley
- Published
- 2008-07-09
- Volume
- 47
- Issue
- 10
- Pages
- 853-859
- ISSN
- 1045-2257 (ISSN-L)
- 1098-2264
- OpenAlex
- W2107651375
- Cited by
- 388
- References
- 29
- FWCI
- 19.63
- Type
- journal article
- Language
- en
- Open access
- green
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- Agaram, N. P., Wong, G. C., Guo, T., Maki, R. G., Singer, S., DeMatteo, R. P., Besmer, P., & Antonescu, C. R. (2008). Novel V600E BRAF mutations in imatinib‐naive and imatinib‐resistant gastrointestinal stromal tumors. Genes, Chromosomes and Cancer. https://doi.org/10.1002/gcc.20589
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