دورية أكاديمية
Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia
| العنوان: | Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia |
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| المؤلفون: | Cheng, Chi-Keung, Yung, Yuk-Lin, Chan, Hoi-Yun, Leung, Kam-Tong, Chan, Kathy Y. Y., Leung, Alex W. K., Cheng, Frankie W. T., Li, Chi-Kong, Wan, Thomas S. K., Luo, Xi, Pitts, Herbert-Augustus, Cheung, Joyce S., Chan, Natalie P. H., Ng, Margaret H. L. |
| المساهمون: | Research Grants Council, University Grants Committee |
| المصدر: | Communications Biology ; volume 6, issue 1 ; ISSN 2399-3642 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Medicine (miscellaneous) |
| الوصف: | Pediatric acute myeloid leukemia (AML) is an uncommon but aggressive hematological malignancy. The poor outcome is attributed to inadequate prognostic classification and limited treatment options. A thorough understanding on the genetic basis of pediatric AML is important for the development of effective approaches to improve outcomes. Here, by comprehensively profiling fusion genes as well as mutations and copy number changes of 141 myeloid-related genes in 147 pediatric AML patients with subsequent variant functional characterization, we unveil complex mutational patterns of biological relevance and disease mechanisms including MYC deregulation. Also, our findings highlight TP53 alterations as strong adverse prognostic markers in pediatric AML and suggest the core spindle checkpoint kinase BUB1B as a selective dependency in this aggressive subgroup. Collectively, our present study provides detailed genomic characterization revealing not only complexities and mechanistic insights into pediatric AML but also significant risk stratification and therapeutic strategies to tackle the disease. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/s42003-023-04732-2 |
| الإتاحة: | https://doi.org/10.1038/s42003-023-04732-2Test https://www.nature.com/articles/s42003-023-04732-2.pdfTest https://www.nature.com/articles/s42003-023-04732-2Test |
| حقوق: | https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: | edsbas.C3CD16CA |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s42003-023-04732-2 |
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