The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia
Open accessAbstract
Aneuploidy and translocations are hallmarks of B-progenitor acute lymphoblastic leukemia (ALL), but many individuals with this cancer lack recurring chromosomal alterations. Here we report a recurring interstitial deletion of the pseudoautosomal region 1 of chromosomes X and Y in B-progenitor ALL that juxtaposes the first, noncoding exon of P2RY8 with the coding region of CRLF2. We identified the P2RY8-CRLF2 fusion in 7% of individuals with B-progenitor ALL and 53% of individuals with ALL associated with Down syndrome. CRLF2 alteration was associated with activating JAK mutations, and expression of human P2RY8-CRLF2 together with mutated mouse Jak2 resulted in constitutive Jak-Stat activation and cytokine-independent growth of Ba/F3 cells overexpressing interleukin-7 receptor alpha. Our findings indicate that these two genetic lesions together contribute to leukemogenesis in B-progenitor ALL.
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Cites
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Self-citationDeletion of IKZF1 and Prognosis in Acute Lymphoblastic Leukemia
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Self-citationBCR–ABL1 lymphoblastic leukaemia is characterized by the deletion of Ikaros
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The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
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“Rearrangement of CRLF2 is observed in B-progenitor AL”
BackgroundSelf-citationTargetable Kinase-Activating Lesions in Ph-like Acute Lymphoblastic Leukemia
Roberts, K. G., Li, Y., Payne-Turner, D., Harvey, R. C., Yang, Y.-L., Pei, D., McCastlain, K., Ding, L., Lu, C., Song, G., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1403088 · Cited by 1,377
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Self-citationJAK/STAT signaling in hematological malignancies
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Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth
Mody, R. J., Wu, Y.-M., Lonigro, R. J., Cao, X., Roychowdhury, S., Vats, P., Frank, K. M., Prensner, J. R., Asangani, I., Palanisamy, N., et al. (2015) · JAMA · doi:10.1001/jama.2015.10080 · Cited by 411
Metadata
- Authors
- Mullighan, C. G., Collins-Underwood, J. R., Phillips, L. A. A., Loudin, M. G., Liu, W., Zhang, J., Ma, J., Coustan-Smith, E., Harvey, R. C., Willman, C. L., Mikhail, F. M., Meyer, J., Carroll, A. J., Williams, R. T., Cheng, J., Heerema, N. A., Basso, G., Pession, A., Pui, C.-H., Raimondi, S. C., Hunger, S. P., Downing, J. R., Carroll, W. L., & Rabin, K. R.
- Venue
- Nature Genetics
- Published
- 2009-10-18
- Volume
- 41
- Issue
- 11
- Pages
- 1243-1246
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1987294127
- Cited by
- 623
- References
- 33
- FWCI
- 46.62
- Type
- journal article
- Language
- en
- Open access
- green
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- Mullighan, C. G., Collins-Underwood, J. R., Phillips, L. A. A., Loudin, M. G., Liu, W., Zhang, J., Ma, J., Coustan-Smith, E., Harvey, R. C., Willman, C. L., Mikhail, F. M., Meyer, J., Carroll, A. J., Williams, R. T., Cheng, J., Heerema, N. A., Basso, G., Pession, A., Pui, C.-H., . . . Rabin, K. R. (2009). Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia. Nature Genetics. https://doi.org/10.1038/ng.469
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