The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation
Open accessAbstract
The pathogenesis of chronic lymphocytic leukemia (CLL), the most common leukemia in adults, is still largely unknown. The full spectrum of genetic lesions that are present in the CLL genome, and therefore the number and identity of dysregulated cellular pathways, have not been identified. By combining next-generation sequencing and copy number analysis, we show here that the typical CLL coding genome contains <20 clonally represented gene alterations/case, including predominantly nonsilent mutations, and fewer copy number aberrations. These analyses led to the discovery of several genes not previously known to be altered in CLL. Although most of these genes were affected at low frequency in an expanded CLL screening cohort, mutational activation of NOTCH1, observed in 8.3% of CLL at diagnosis, was detected at significantly higher frequency during disease progression toward Richter transformation (31.0%), as well as in chemorefractory CLL (20.8%). Consistent with the association of NOTCH1 mutations with clinically aggressive forms of the disease, NOTCH1 activation at CLL diagnosis emerged as an independent predictor of poor survival. These results provide initial data on the complexity of the CLL coding genome and identify a dysregulated pathway of diagnostic and therapeutic relevance.
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Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia
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Self-citationThe differential expression of IL-4 and IL-13 and its impact on type-2 immunity
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Metadata
- Authors
- Fabbri, G., Rasi, S., Rossi, D., Trifonov, V., Khiabanian, H., Ma, J., Grunn, A., Fangazio, M., Capello, D., Monti, S., Cresta, S., Gargiulo, E., Forconi, F., Guarini, A., Arcaini, L., Paulli, M., Laurenti, L., Larocca, L. M., Marasca, R., Gattei, V., Oscier, D., Bertoni, F., Mullighan, C. G., Foá, R., Pasqualucci, L., Rabadan, R., Dalla-Favera, R., & Gaidano, G.
- Venue
- Journal of Experimental Medicine
- Publisher
- Rockefeller University Press
- Published
- 2011-06-13
- Volume
- 208
- Issue
- 7
- Pages
- 1389-1401
- ISSN
- 0022-1007 (ISSN-L)
- 1540-9538
- OpenAlex
- W2116431837
- Cited by
- 610
- References
- 8
- FWCI
- 36.10
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Fabbri, G., Rasi, S., Rossi, D., Trifonov, V., Khiabanian, H., Ma, J., Grunn, A., Fangazio, M., Capello, D., Monti, S., Cresta, S., Gargiulo, E., Forconi, F., Guarini, A., Arcaini, L., Paulli, M., Laurenti, L., Larocca, L. M., Marasca, R., . . . Gaidano, G. (2011). Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. Journal of Experimental Medicine. https://doi.org/10.1084/jem.20110921
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
