The genomic landscape of two Burkitt lymphoma cases and derived cell lines: comparison between primary and relapse samples

Leuk Lymphoma. 2018 Sep;59(9):2159-2174. doi: 10.1080/10428194.2017.1413186. Epub 2018 Jan 3.


Relapse occurs in 10-40% of Burkitt lymphoma (BL) patients that have completed intensive chemotherapy regimens and is typically fatal. While treatment-naive BL has been characterized, the genomic landscape of BL at the time of relapse (rBL) has never been reported. Here, we present a genomic characterization of two rBL patients. The diagnostic samples had mutations common in BL, including MYC and CCND3. Additional mutations were detected at relapse, affecting important pathways such as NFκB (IKBKB) and MEK/ERK (NRAS) signaling, glutamine metabolism (SIRT4), and RNA processing (ZFP36L2). Genes implicated in drug resistance were also mutated at relapse (TP53, BAX, ALDH3A1, APAF1, FANCI). This concurrent genomic profiling of samples obtained at diagnosis and relapse has revealed mutations not previously reported in this disease. The patient-derived cell lines will be made available and, along with their detailed genetics, will be a valuable resource to examine the role of specific mutations in therapeutic resistance.

Keywords: Lymphoma and Hodgkin disease; cell cycle and apoptosis changes; drug resistance; lymphocytes; molecular genetics.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Burkitt Lymphoma / drug therapy
  • Burkitt Lymphoma / genetics*
  • Burkitt Lymphoma / pathology
  • Cell Line, Tumor
  • Cyclin D3 / genetics
  • Genomics / methods*
  • Humans
  • Male
  • Mutation*
  • Neoplasm Recurrence, Local / genetics*
  • Sequence Analysis, DNA
  • Young Adult
  • bcl-2-Associated X Protein / genetics


  • CCND3 protein, human
  • Cyclin D3
  • bcl-2-Associated X Protein