期刊
BLOOD
卷 133, 期 9, 页码 962-966出版社
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2018-07-864025
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- German Ministry of Science and Education (BMBF) [036166B]
- KinderKrebsInitiative Buchholz/Holm-Seppensen
- Medical Faculty of Ulm University
- Deutsche Kinderkrebsstiftung [DKS 2016.24 A/B]
- NATIONAL CANCER INSTITUTE [ZIABC011070] Funding Source: NIH RePORTER
The new recently described provisional lymphoma category Burkitt-like lymphoma with 11q aberration comprises cases similar to Burkitt lymphoma (BL) on morphological, immunophenotypic and gene-expression levels but lacking the IG-MYC translocation. They are characterized by a peculiar imbalance pattern on chromosome 11, but the landscape of mutations is not yet described. Thus, we investigated 15 MYC-negative Burkitt-like lymphoma with 11q aberration (mnBLL, 11q,) cases by copy-number analysis and whole-exome sequencing. We refined the regions of 11q imbalance and identified the INO80 complex-associated gene NFRKB as a positional candidate in 11q24.3. Next to recurrent gains in 12q13.11-q24.32 and 7q34-qter as well as losses in 13q32.3-q34, we identified 47 genes recurrently affected by protein-changing mutations (each >= 3 of 15 cases). Strikingly, we did not detect recurrent mutations in genes of the ID3-TCF3 axis or the SWI/SNF complex that are frequently altered in BL, or in genes frequently mutated in germinal center-derived B-cell lymphomas like KMT2D or CREBBP. An exception is GNA13, which was mutated in 7 of 15 cases. We conclude that the genomic landscape of mnBLL, 11q, differs from that of BL both at the chromosomal and mutational levels. Our findings implicate that mnBLL, 11q, is a lymphoma category distinct from BL at the molecular level.
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