The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
The Genomic Landscape of Childhood and Adolescent Melanoma
Open accessAbstract
Despite remarkable advances in the genomic characterization of adult melanoma, the molecular pathogenesis of pediatric melanoma remains largely unknown. We analyzed 15 conventional melanomas (CMs), 3 melanomas arising in congenital nevi (CNMs), and 5 spitzoid melanomas (SMs), using various platforms, including whole genome or exome sequencing, the molecular inversion probe assay, and/or targeted sequencing. CMs demonstrated a high burden of somatic single-nucleotide variations (SNVs), with each case containing a TERT promoter (TERT-p) mutation, 13/15 containing an activating BRAF V600 mutation, and >80% of the identified SNVs consistent with UV damage. In contrast, the three CNMs contained an activating NRAS Q61 mutation and no TERT-p mutations. SMs were characterized by chromosomal rearrangements resulting in activated kinase signaling in 40%, and an absence of TERT-p mutations, except for the one SM that succumbed to hematogenous metastasis. We conclude that pediatric CM has a very similar UV-induced mutational spectrum to that found in the adult counterpart, emphasizing the need to promote sun protection practices in early life and to improve access to therapeutic agents being explored in adults in young patients. In contrast, the pathogenesis of CNM appears to be distinct. TERT-p mutations may identify the rare subset of spitzoid melanocytic lesions prone to disseminate.
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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
Self-citationA landscape of driver mutations in melanoma
Hodis, E., Watson, I. R., Kryukov, G. V., Arold, S. T., Imielinski, M., Theurillat, J.-P., Nickerson, E., Auclair, D., Li, L., Place, C., et al. (2012) · Cell · doi:10.1016/j.cell.2012.06.024 · Cited by 2,610
High frequency of BRAF mutations in nevi
Pollock, P. M., Harper, U. L., Hansen, K. S., Yudt, L. M., Stark, M., Robbins, C. M., Moses, T. Y., Hostetter, G., Wagner, U., Kakareka, J., et al. (2003) · Nature Genetics · doi:10.1038/ng1054 · Cited by 1,730
Melanoma genome sequencing reveals frequent PREX2 mutations
Berger, M. F., Hodis, E., Heffernan, T. P., Deribe, Y. L., Lawrence, M. S., Protopopov, A., Ivanova, E., Watson, I. R., Nickerson, E., Ghosh, P., et al. (2012) · Nature · doi:10.1038/nature11071 · Cited by 756
Recurrent Somatic Structural Variations Contribute to Tumorigenesis in Pediatric Osteosarcoma
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Self-citationMC1R variants, melanoma and red hair color phenotype: A meta‐analysis
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Self-citationDaya-Grosjean, L., & Sarasin, A. (2005) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2004.11.013 · Cited by 142 · cited 2×
“…to thymidine (C– 4T) or guanine to adenine (G–4A) transitions, and X90% of the mutations occurred 30 to a pyrimidine base, consistent with UV-induced DNA damage (Supplementary Figure S3 online) (Pfeifer et al., 2005; Daya-Grosjean and Sarasin, 2005; Leiter and Garbe, 2008; Wei et al., 2011).”
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Cited by
Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours
Ma, X., Liu, Y., Liu, Y., Alexandrov, L. B., Edmonson, M. N., Gawad, C., Zhou, X., Li, Y., Rusch, M. C., Easton, J., et al. (2018) · Nature · doi:10.1038/nature25795 · Cited by 901
Self-citationGeoerger, B., Kang, H. J., Yalon-Oren, M., Marshall, L. V., Vezina, C., Pappo, A., Laetsch, T. W., Petrilli, A. S., Ebinger, M., Toporski, J., et al. (2020) · The Lancet Oncology · doi:10.1016/s1470-2045(19)30671-0 · Cited by 357
Self-citationRoles of UVA radiation and DNA damage responses in melanoma pathogenesis
Khan, A. Q., Travers, J. B., & Kemp, M. G. (2018) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22176 · Cited by 152
Phase II study of ipilimumab in adolescents with unresectable stage III or IV malignant melanoma
Geoerger, B., Bergeron, C., Gore, L., Sender, L., Dunkel, I. J., Herzog, C., Brochez, L., Cruz, O., Nysom, K., Berghorn, E., et al. (2017) · European Journal of Cancer · doi:10.1016/j.ejca.2017.09.032 · Cited by 98
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Metadata
- Authors
- Lu, C., Zhang, J., Nagahawatte, P., Easton, J., Lee, S., Liu, Z., Ding, L., Wyczalkowski, M. A., Valentine, M., Navid, F., Mulder, H., Tatevossian, R. G., Dalton, J., Davenport, J., Yin, Z., Edmonson, M., Rusch, M., Wu, G., Li, Y., Parker, M., Hedlund, E., Shurtleff, S., Raimondi, S., Bhavin, V., Donald, Y., Mardis, E. R., Wilson, R. K., Evans, W. E., Ellison, D. W., Pounds, S., Dyer, M., Downing, J. R., Pappo, A., & Bahrami, A.
- Venue
- Journal of Investigative Dermatology
- Publisher
- Elsevier BV
- Published
- 2015-03
- Volume
- 135
- Issue
- 3
- Pages
- 816-823
- ISSN
- 0022-202X (ISSN-L)
- OpenAlex
- W2055121214
- Cited by
- 186
- References
- 7
- FWCI
- 6.45
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Lu, C., Zhang, J., Nagahawatte, P., Easton, J., Lee, S., Liu, Z., Ding, L., Wyczalkowski, M. A., Valentine, M., Navid, F., Mulder, H., Tatevossian, R. G., Dalton, J., Davenport, J., Yin, Z., Edmonson, M., Rusch, M., Wu, G., Li, Y., . . . Bahrami, A. (2015). The Genomic Landscape of Childhood and Adolescent Melanoma. Journal of Investigative Dermatology. https://doi.org/10.1038/jid.2014.425
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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