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. 2020 Feb 17;44(1):1–14. doi: 10.3906/biy-1908-23

Table 1.

The major genetic aberrations identified in Hodgkin’s lymphoma.

Lymphomatype Gene Genetic aberration Frequency of mutated cases (%) Dysregulated biological process or pathway References
Hodgkin’s lymphoma REL Amplification ~50 NF-κB pathway Barth et al., 2003
NFKBIA, NFKBIE, TNFAIP3 Point mutations, deletions 50–60 Weniger et al., 2016
MDM2 Gains 60 P53-dependent biological processes (e.g., cell cycle arrest and apoptosis) Küppers, 2009
TP53 Point mutations, deletions 10
Classical Hodgkin’s lymphoma JAK1, STAT3, STAT5B Missense mutations 15 JAK-STAT pathway Tiacci et al., 2018
JAK2 Gains 32
PTPN1 Splice-acceptor, missense mutations 6
SOCS1 Frameshift mutations, disruptive in-frame deletions, splice donor, missense 47 JAK-STAT5pathway Weniger et al., 2006;Tiacci et al., 2018
EBV+ Hodgkin’s lymphoma LMP2A EBV-encoded LMP2A mediated transcriptional changes ~50 Transcriptional signature similar to that of HRS* cells Portis et al., 2003

*: Reed–Sternberg cells of Hodgkin’s lymphoma.