Table 1 Genetic lesions in HRS and LP cells.

From: Molecular biology of Hodgkin lymphoma

Gene

Pathway or main function

Type of genetic alteration

Approximate frequency (%)

References

HRS cells

 NFKBIA

NF-κB pathway

SNVs, indels

10–20

[33, 39, 45]

 NFKBIE

NF-κB pathway

SNVs, indels

10

[32, 33, 41, 51]

 TNFAIP3

NF-κB pathway

SNVs, indels

40

[40, 42]

 REL

NF-κB pathway

Gains/amplifications

50

[35, 36, 38]

 MAP3K14

NF-κB pathway

Gains/amplifications

25

[38, 43]

 BCL3

NF-κB pathway

Gains, translocations

20

[37]

 JAK2a

JAK/STAT pathway

Gains/amplification

30

[48, 52]

 SOCS1

JAK/STAT pathway

SNVs, indels

40

[31,32,33, 47]

 STAT6

JAK/STAT pathway

SNVs, gains

30

[32, 50, 51]

 PTPN1

JAK/STAT pathway

SNVs, indels

20

[32, 33, 46]

 CSF2RB

JAK/STAT pathway

SNVs

20

[31, 33]

 ITPKB

PI3K/AKT pathway

SNVs

15

[31, 32, 51]

 GNA13

PI3K/AKT pathway

SNVs

20

[31,32,33, 51]

 B2M

Immune evasion

SNVs, indels

30

[31,32,33, 51]

 MHC2TA

Immune evasion

Translocations, SNVs

15

[51, 54]

 PD-L1, PD-L2a

Immune evasion

Gains/amplifications

30

[49, 52, 53]

 XPO1

Nuclear RNA and protein export

SNVs (codon 571), gains

20

[32, 33, 56]

 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]

  1. SNV single nucleotide variants, i.e., somatic point mutations.
  2. aPD-L1, PD-L2, JAK2, and JMJD2C are located close to each other and hence mostly co-gained or co-amplified.