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Cited by 623

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 access
Mullighan, Charles G, Collins-Underwood, J Racquel, Phillips, Letha A A, Loudin, Michael G, Liu, Wei, Zhang, Jinghui, Ma, Jing, Coustan-Smith, Elaine, Harvey, Richard C, Willman, Cheryl L, Mikhail, Fady M, Meyer, Julia, Carroll, Andrew J, Williams, Richard T, Cheng, Jinjun, Heerema, Nyla A, Basso, Giuseppe, Pession, Andrea, Pui, Ching-Hon, Raimondi, Susana C, Hunger, Stephen P, Downing, James R, Carroll, William L, Rabin, Karen R·2009·Nature Genetics

Abstract

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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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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CoChat. (2026). Citation check: Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia. https://app.cochat.ai/papers/10.1038/ng.469
The paper
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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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

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