The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms
Open accessAbstract
Histiocytic neoplasms are clonal, hematopoietic disorders characterized by an accumulation of abnormal, monocyte-derived dendritic cells or macrophages in Langerhans cell histiocytosis (LCH) and non-Langerhans cell histiocytosis (non-LCH), respectively. The discovery of BRAFV600E mutations in approximately 50% of these patients provided the first molecular therapeutic target in histiocytosis. However, recurrent driving mutations in the majority of patients with BRAFV600E–wild-type non-LCH are unknown, and recurrent cooperating mutations in non-MAP kinase pathways are undefined for the histiocytic neoplasms. Through combined whole-exome and transcriptome sequencing, we identified recurrent kinase fusions involving BRAF, ALK, and NTRK1, as well as recurrent, activating MAP2K1 and ARAF mutations in patients with BRAFV600E–wild-type non-LCH. In addition to MAP kinase pathway lesions, recurrently altered genes involving diverse cellular pathways were identified. Treatment of patients with MAP2K1- and ARAF-mutated non-LCH using MEK and RAF inhibitors, respectively, resulted in clinical efficacy, demonstrating the importance of detecting and targeting diverse kinase alterations in these disorders. Significance: We provide the first description of kinase fusions in systemic histiocytic neoplasms and activating ARAF and MAP2K1 mutations in non-Langerhans histiocytic neoplasms. Refractory patients with MAP2K1- and ARAF-mutant histiocytoses had clinical responses to MEK inhibition and sorafenib, respectively, highlighting the importance of comprehensive genomic analysis of these disorders. Cancer Discov; 6(2); 154–65. ©2015 AACR. This article is highlighted in the In This Issue feature, p. 109
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Cites
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“Targeted DNA Sequencing We sequenced the regions of known mutations in MAP2K1, NRAS, KRAS, and PIK3CA, as well as all coding exons of ARAF using Sanger sequencing (primer sequences listed in Supplementary Table S5) and/or hybrid-capture, next generation sequencing using the MSKCC IMPACT assay as previously described (…”
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Age-related mutations associated with clonal hematopoietic expansion and malignancies
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Self-citationMutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai–Dorfman disease
Garces, S., Medeiros, L. J., Patel, K. P., Li, S., Pina-Oviedo, S., Li, J., Garces, J. C., Khoury, J. D., & Yin, C. C. (2017) · Modern Pathology · doi:10.1038/modpathol.2017.55 · Cited by 299
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“FASTQ files from control brains and previously sequenced JXG and LCH brain samples (SJLCH13 and SJLCH14) 17 were mapped to Human genome GRCh37 using Star aligner.”
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Metadata
- Authors
- Diamond, E. L., Durham, B. H., Haroche, J., Yao, Z., Ma, J., Parikh, S. A., Wang, Z., Choi, J., Kim, E., Cohen-Aubart, F., Lee, S. C.-W., Gao, Y., Micol, J.-B., Campbell, P., Walsh, M. P., Sylvester, B., Dolgalev, I., Aminova, O., Heguy, A., Zappile, P., Nakitandwe, J., Ganzel, C., Dalton, J. D., Ellison, D. W., Estrada-Veras, J., Lacouture, M., Gahl, W. A., Stephens, P. J., Miller, V. A., Ross, J. S., Ali, S. M., Briggs, S. R., Fasan, O., Block, J., Héritier, S., Donadieu, J., Solit, D. B., Hyman, D. M., Baselga, J., Janku, F., Taylor, B. S., Park, C. Y., Amoura, Z., Dogan, A., Emile, J.-F., Rosen, N., Gruber, T. A., & Abdel-Wahab, O.
- Venue
- Cancer Discovery
- Published
- 2016-02-01
- Volume
- 6
- Issue
- 2
- Pages
- 154-165
- ISSN
- 2159-8274 (ISSN-L)
- 2159-8290
- OpenAlex
- W2234683072
- Cited by
- 535
- References
- 15
- FWCI
- 22.81
- Type
- journal article
- Language
- en
- Open access
- green
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- Diamond, E. L., Durham, B. H., Haroche, J., Yao, Z., Ma, J., Parikh, S. A., Wang, Z., Choi, J., Kim, E., Cohen-Aubart, F., Lee, S. C.-W., Gao, Y., Micol, J.-B., Campbell, P., Walsh, M. P., Sylvester, B., Dolgalev, I., Aminova, O., Heguy, A., . . . Abdel-Wahab, O. (2016). Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discovery. https://doi.org/10.1158/2159-8290.cd-15-0913
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