The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
The genomic landscape of pediatric myelodysplastic syndromes
Open accessAbstract
Myelodysplastic syndromes (MDS) are uncommon in children and have a poor prognosis. In contrast to adult MDS, little is known about the genomic landscape of pediatric MDS. Here, we describe the somatic and germline changes of pediatric MDS using whole exome sequencing, targeted amplicon sequencing, and/or RNA-sequencing of 46 pediatric primary MDS patients. Our data show that, in contrast to adult MDS, Ras/MAPK pathway mutations are common in pediatric MDS (45% of primary cohort), while mutations in RNA splicing genes are rare (2% of primary cohort). Surprisingly, germline variants in SAMD9 or SAMD9L were present in 17% of primary MDS patients, and these variants were routinely lost in the tumor cells by chromosomal deletions (e.g., monosomy 7) or copy number neutral loss of heterozygosity (CN-LOH). Our data confirm that adult and pediatric MDS are separate diseases with disparate mechanisms, and that SAMD9/SAMD9L mutations represent a new class of MDS predisposition.
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Signatures of mutational processes in human cancer
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Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
The Cancer Genome Atlas Research Network (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301689 · Cited by 5,078
Frequent pathway mutations of splicing machinery in myelodysplasia
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Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
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Germline Mutations in Predisposition Genes in Pediatric Cancer
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Self-citationSomatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
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Cited by
Khoury, J. D., Solary, E., Abla, O., Akkari, Y., Alaggio, R., Apperley, J. F., Bejar, R., Berti, E., Busque, L., Chan, J. K. C., et al. (2022) · Leukemia · doi:10.1038/s41375-022-01613-1 · Cited by 4,274
Arber, D. A., Orazi, A., Hasserjian, R. P., Borowitz, M. J., Calvo, K. R., Kvasnicka, H.-M., Wang, S. A., Bagg, A., Barbui, T., Branford, S., et al. (2022) · Blood · doi:10.1182/blood.2022015850 · Cited by 2,945
Self-citationThe longitudinal dynamics and natural history of clonal haematopoiesis
Fabre, M. A., de Almeida, J. G., Fiorillo, E., Mitchell, E., Damaskou, A., Rak, J., Orrù, V., Marongiu, M., Chapman, M. S., Vijayabaskar, M. S., et al. (2022) · Nature · doi:10.1038/s41586-022-04785-z · Cited by 374
Predisposition to cancer in children and adolescents
Kratz, C. P., Jongmans, M. C., Cavé, H., Wimmer, K., Behjati, S., Guerrini-Rousseau, L., Milde, T., Pajtler, K. W., Golmard, L., Gauthier-Villars, M., et al. (2021) · The Lancet Child & Adolescent Health · doi:10.1016/s2352-4642(20)30275-3 · Cited by 129
Metadata
- Authors
- Schwartz, J. R., Ma, J., Lamprecht, T., Walsh, M., Wang, S., Bryant, V., Song, G., Wu, G., Easton, J., Kesserwan, C., Nichols, K. E., Mullighan, C. G., Ribeiro, R. C., & Klco, J. M.
- Venue
- Nature Communications
- Published
- 2017-11-16
- Volume
- 8
- Issue
- 1
- Pages
- 1557-1557
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2767347576
- Cited by
- 210
- References
- 12
- FWCI
- 9.05
- Type
- journal article
- Language
- en
- Open access
- gold
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- Schwartz, J. R., Ma, J., Lamprecht, T., Walsh, M., Wang, S., Bryant, V., Song, G., Wu, G., Easton, J., Kesserwan, C., Nichols, K. E., Mullighan, C. G., Ribeiro, R. C., & Klco, J. M. (2017). The genomic landscape of pediatric myelodysplastic syndromes. Nature Communications. https://doi.org/10.1038/s41467-017-01590-5
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