Table 1 Genetic lesions in HRS and LP cells.
Gene | Pathway or main function | Type of genetic alteration | Approximate frequency (%) | References |
|---|---|---|---|---|
HRS cells | ||||
NFKBIA | NF-κB pathway | SNVs, indels | 10–20 | |
NFKBIE | NF-κB pathway | SNVs, indels | 10 | |
TNFAIP3 | NF-κB pathway | SNVs, indels | 40 | |
REL | NF-κB pathway | Gains/amplifications | 50 | |
MAP3K14 | NF-κB pathway | Gains/amplifications | 25 | |
BCL3 | NF-κB pathway | Gains, translocations | 20 | [37] |
JAK2a | JAK/STAT pathway | Gains/amplification | 30 | |
SOCS1 | JAK/STAT pathway | SNVs, indels | 40 | |
STAT6 | JAK/STAT pathway | SNVs, gains | 30 | |
PTPN1 | JAK/STAT pathway | SNVs, indels | 20 | |
CSF2RB | JAK/STAT pathway | SNVs | 20 | |
ITPKB | PI3K/AKT pathway | SNVs | 15 | |
GNA13 | PI3K/AKT pathway | SNVs | 20 | |
B2M | Immune evasion | SNVs, indels | 30 | |
MHC2TA | Immune evasion | Translocations, SNVs | 15 | |
PD-L1, PD-L2a | Immune evasion | Gains/amplifications | 30 | |
XPO1 | Nuclear RNA and protein export | SNVs (codon 571), gains | 20 | |
ARID1A | Chromatin remodeling | SNVs, indels | 25 | [33] |
JMJD2Ca | Epigenetic regulator | Gains/amplifications | 30 | [49] |
LP cells | ||||
BCL6 | Transcription factor | Translocations | 35 | [58] |
SOCS1 | JAK/STAT pathway | SNVs, indels | 40 | [61] |
SGK1 | SNVs | 50 | [62] | |
JUNB | Transcription factor | SNVs | 50 | [62] |
DUSP2 | SNVs | 50 | [62] | |
REL | NF-κB pathway | Gains | 40 | [60] |