Title |
Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing
|
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Published in |
Journal of Hematology & Oncology, June 2015
|
DOI | 10.1186/s13045-015-0167-8 |
Pubmed ID | |
Authors |
Marco Togni, Riccardo Masetti, Martina Pigazzi, Annalisa Astolfi, Daniele Zama, Valentina Indio, Salvatore Serravalle, Elena Manara, Valeria Bisio, Carmelo Rizzari, Giuseppe Basso, Andrea Pession, Franco Locatelli |
Abstract |
The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-seq 13 pediatric CN-AML cases, corroborating our findings in an independent cohort of 168 AML patients enrolled in the AIEOP AML 2002/01 study. We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6 %) abnormality in pediatric CN-AML. |
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Unknown | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
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Italy | 1 | 2% |
Unknown | 42 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 8 | 19% |
Other | 7 | 16% |
Student > Bachelor | 6 | 14% |
Student > Ph. D. Student | 6 | 14% |
Student > Master | 4 | 9% |
Other | 5 | 12% |
Unknown | 7 | 16% |
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Medicine and Dentistry | 9 | 21% |
Agricultural and Biological Sciences | 8 | 19% |
Materials Science | 1 | 2% |
Engineering | 1 | 2% |
Other | 0 | 0% |
Unknown | 11 | 26% |