The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma
Open accessAbstract
Mantle cell lymphoma (MCL), an aggressive subtype of non-Hodgkin lymphoma, is characterized by the hallmark translocation t(11;14)(q13;q32) and the resulting overexpression of cyclin D1 (CCND1). Our current knowledge of this disease encompasses frequent secondary cytogenetic aberrations and the recurrent mutation of a handful of genes, such as TP53, ATM, and CCND1. However, these findings insufficiently explain the biologic underpinnings of MCL. Here, we performed whole transcriptome sequencing on a discovery cohort of 18 primary tissue MCL samples and 2 cell lines. We found recurrent mutations in NOTCH1, a finding that we confirmed in an extension cohort of 108 clinical samples and 8 cell lines. In total, 12% of clinical samples and 20% of cell lines harbored somatic NOTCH1 coding sequence mutations that clustered in the PEST domain and predominantly consisted of truncating mutations or small frame-shifting indels. NOTCH1 mutations were associated with poor overall survival (P = .003). Furthermore, we showed that inhibition of the NOTCH pathway reduced proliferation and induced apoptosis in 2 MCL cell lines. In summary, we have identified recurrent NOTCH1 mutations that provide the preclinical rationale for therapeutic inhibition of the NOTCH pathway in a subset of patients with MCL.
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Metadata
- Authors
- Kridel, R., Meissner, B., Rogic, S., Boyle, M., Telenius, A., Woolcock, B., Gunawardana, J., Jenkins, C., Cochrane, C., Ben-Neriah, S., Tan, K., Morin, R. D., Opat, S., Sehn, L. H., Connors, J. M., Marra, M. A., Weng, A. P., Steidl, C., & Gascoyne, R. D.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2012-03-01
- Volume
- 119
- Issue
- 9
- Pages
- 1963-1971
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2050999393
- Cited by
- 338
- References
- 4
- FWCI
- 18.81
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- Kridel, R., Meissner, B., Rogic, S., Boyle, M., Telenius, A., Woolcock, B., Gunawardana, J., Jenkins, C., Cochrane, C., Ben-Neriah, S., Tan, K., Morin, R. D., Opat, S., Sehn, L. H., Connors, J. M., Marra, M. A., Weng, A. P., Steidl, C., & Gascoyne, R. D. (2012). Whole transcriptome sequencing reveals recurrent NOTCH1 mutations in mantle cell lymphoma. Blood. https://doi.org/10.1182/blood-2011-11-391474
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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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