Cryptic MYC insertions in Burkitt lymphoma: New data and a review of the literature

PLoS One. 2022 Feb 15;17(2):e0263980. doi: 10.1371/journal.pone.0263980. eCollection 2022.


The occurrence of MYC-negative Burkitt lymphoma (BL) has been discussed for many years. The real frequency of the MYC insertion in MYC-negative BL is still unknown. Fine-needle aspiration biopsies of 108 consecutive patients with clinicopathologically suspected BL (suspBL) were evaluated by flow cytometry, classical cytogenetics, and fluorescence in situ hybridization (FISH). We found 12 cases (11%) without the MYC rearrangement by FISH with a MYC breakapart probe: two patients (1.9%) with cryptic MYC/IGH fusion (finally diagnosed as BL) and 10 patients (9.3%) with 11q gain/loss (finally diagnosed as Burkitt-like lymphoma with 11q aberration). The exact breakpoints of the cryptic MYC/IGH were investigated by next-generation sequencing. The MYC insertions' breakpoints were identified in PVT1 in the first case, and 42 kb upstream of 5'MYC in the second case. To date, a molecular characterization of the MYC insertion in BL has only been reported in one case. Detailed descriptions of our MYC insertions in a routinely and consecutively diagnosed suspBL cohort will contribute to resolving the issue of MYC negativity in BL. In our opinion, the presence of the MYC insertions in BL and other lymphomas might be underestimated, because routine genetic diagnostics are usually based on FISH only, without karyotyping.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Aged
  • Biopsy, Fine-Needle
  • Burkitt Lymphoma / genetics
  • Burkitt Lymphoma / pathology*
  • Child
  • Child, Preschool
  • Chromosome Breakpoints
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping / methods*
  • Male
  • Middle Aged
  • Mutagenesis, Insertional*
  • Proto-Oncogene Proteins c-myc / genetics*
  • Sequence Analysis, DNA / methods*
  • Young Adult


  • MYC protein, human
  • Proto-Oncogene Proteins c-myc

Grants and funding

This work was supported by the Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland ( Grant # SN/GW08/2020 (BG) and Count Jakub Potocki’s Foundation, Warsaw, Poland ( Grant # 825/18 (BG). Some of the bioinformatic analyses presented in this study were performed on the ZEUS supercomputer located at the University of Science and Technology in Krakow, Poland. This research was supported in part by PLGrid Infrastructure ( Grant # ovcarnaseq (LMS). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.”