The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma

Rabea Wagener, Julian Seufert, Francesco Raimondi, Susanne Bens, Kortine Kleinheinz, Inga Nagel, Janine Altmüller, Holger Thiele, Daniel Hübschmann, Christian W. Kohler, Peter Nürnberg, Rex Au-Yeung, Birgit Burkhardt, Heike Horn, Lorenzo Leoncini, Elaine S. Jaffe, German Ott, Grzegorz Rymkiewicz, Matthias Schlesner, Robert B. Russell, Wolfram Klapper and Reiner Siebert

Key Points

  • Burkitt-like lymphoma with 11q aberration harbors a mutational landscape distinct from sporadic BL.

  • Biallelic inactivation indicates a pathogenic role of the INO80 complex-associated NFRKB gene in mnBLL,11q.

Publisher's Note: There is a Blood Commentary on this article in this issue.


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.

  • Submitted July 17, 2018.
  • Accepted December 6, 2018.
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