The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
An Inv(16)(p13.3q24.3)-Encoded CBFA2T3-GLIS2 Fusion Protein Defines an Aggressive Subtype of Pediatric Acute Megakaryoblastic Leukemia
Open accessAbstract
SUMMARY To define the mutation spectrum in non-Down syndrome acute megkaryoblastic leukemia (non-DS-AMKL), we performed transcriptome sequencing on diagnostic blasts from 14 pediatric patients and validated our findings in a recurrency/validation cohort consisting of 34 pediatric and 28 adult AMKL leukemia samples. Our analysis identified a cryptic chromosome 16 inversion [inv(16)(p13.3q24.3)] in 27% of pediatric cases, which encodes a CBFA2T3-GLIS2 fusion protein. Expression of CBFA2T3-GLIS2 in Drosophila and murine hematopoietic cells induced bone morphogenic protein (BMP) signaling, and resulted in a marked increase in the self-renewal capacity of hematopoietic progenitors. These data suggest that expression of CBFA2T3-GLIS2 directly contributes to leukemogenesis.
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Cites
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity
Barretina, J., Caponigro, G., Stransky, N., Venkatesan, K., Margolin, A. A., Kim, S., Wilson, C. J., Lehár, J., Kryukov, G. V., Sonkin, D., et al. (2012) · Nature · doi:10.1038/nature11003 · Cited by 7,950
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892
Recurring mutations found by sequencing an acute myeloid leukemia genome
Mardis, E. R., Ding, L., Dooling, D. J., Larson, D. E., McLellan, M. D., Chen, K., Koboldt, D. C., Fulton, R. S., Delehaunty, K. D., McGrath, S. D., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0903840 · Cited by 2,219
Self-citationThe genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Zhang, J., Ding, L., Holmfeldt, L., Wu, G., Heatley, S. L., Payne-Turner, D., Easton, J., Chen, X., Wang, J., Rusch, M., et al. (2012) · Nature · doi:10.1038/nature10725 · Cited by 1,596 · cited 6×
“CNVs were identified by evaluating the difference of read depth for each tumor and its matching normal using the - algorithm CONSERTING (COpy Number SEgmentation by Regression Tree In Next-Gen sequencing (Zhang et al., 2012).”
MethodInfluentialSelf-citationHox genes in hematopoiesis and leukemogenesis
Argiropoulos, B., & Humphries, R. K. (2007) · Oncogene · doi:10.1038/sj.onc.1210760 · Cited by 492 · cited 1×
“Importantly, several of the genes involved in these translocations play a direct role in normal megakaryocytic differentiation (GATA2 and FLI1), have been previously shown to be involved in leukemogenesis (HOXA9, MN1, HOXB9, NUP98, KDM5A), or are highly expressed in hematopoietic stem cells or myeloid/megakaryocytic p…”
BackgroundVisvader, J. E., Crossley, M., Hill, J., Orkin, S. H., & Adams, J. M. (1995) · Molecular and Cellular Biology · doi:10.1128/mcb.15.2.634 · Cited by 151
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Self-citationGermline Mutations in Predisposition Genes in Pediatric Cancer
Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1508054 · Cited by 1,345
Self-citationBolouri, H., Farrar, J. E., Triche, T., Ries, R. E., Lim, E. L., Alonzo, T. A., Ma, Y., Moore, R., Mungall, A. J., Marra, M. A., et al. (2018) · Nature Medicine · doi:10.1038/nm.4439 · Cited by 848
Self-citationMolecular landscape of acute myeloid leukemia in younger adults and its clinical relevance
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Metadata
- Authors
- Gruber, T. A., Larson Gedman, A., Zhang, J., Koss, C. S., Marada, S., Ta, H. Q., Chen, S.-C., Su, X., Ogden, S. K., Dang, J., Wu, G., Gupta, V., Andersson, A. K., Pounds, S., Shi, L., Easton, J., Barbato, M. I., Mulder, H. L., Manne, J., Wang, J., Rusch, M., Ranade, S., Ganti, R., Parker, M., Ma, J., Radtke, I., Ding, L., Cazzaniga, G., Biondi, A., Kornblau, S. M., Ravandi, F., Kantarjian, H., Nimer, S. D., Döhner, K., Döhner, H., Ley, T. J., Ballerini, P., Shurtleff, S., Tomizawa, D., Adachi, S., Hayashi, Y., Tawa, A., Shih, L.-Y., Liang, D.-C., Rubnitz, J. E., Pui, C.-H., Mardis, E. R., Wilson, R. K., & Downing, J. R.
- Venue
- Cancer Cell
- Publisher
- Elsevier BV
- Published
- 2012-11
- Volume
- 22
- Issue
- 5
- Pages
- 683-697
- ISSN
- 1535-6108 (ISSN-L)
- OpenAlex
- W2062767772
- Cited by
- 283
- References
- 6
- FWCI
- 11.72
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: An Inv(16)(p13.3q24.3)-Encoded CBFA2T3-GLIS2 Fusion Protein Defines an Aggressive Subtype of Pediatric Acute Megakaryoblastic Leukemia. https://app.cochat.ai/papers/10.1016/j.ccr.2012.10.007
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- Gruber, T. A., Larson Gedman, A., Zhang, J., Koss, C. S., Marada, S., Ta, H. Q., Chen, S.-C., Su, X., Ogden, S. K., Dang, J., Wu, G., Gupta, V., Andersson, A. K., Pounds, S., Shi, L., Easton, J., Barbato, M. I., Mulder, H. L., Manne, J., . . . Downing, J. R. (2012). An Inv(16)(p13.3q24.3)-Encoded CBFA2T3-GLIS2 Fusion Protein Defines an Aggressive Subtype of Pediatric Acute Megakaryoblastic Leukemia. Cancer Cell. https://doi.org/10.1016/j.ccr.2012.10.007
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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.
