Frequently mutated genes in TCR signaling and epigenetic pathways in T-cell lymphomas
| Gene, mutation . | Change in activity . | Frequency, % . |
|---|---|---|
| AITL | ||
| RHOA, G17V | LOF12,31 /unknown29 | 42-6712,23,28,52,82 |
| CD28, point mutants, translocations | GOF23,41 | 10-1523,41,43,44 |
| DNMT3A, point mutants | LOF12,52 | 3-3312,52,83 |
| TET2, nonsense/point mutants | LOF12 | 13-7312,52,82,83 |
| IDH2, point mutants | Neomorphic97 | 20-4012,52,97 |
| ALK− ALCL | ||
| PTPN6, aberrant methylation and inactivation | LOF15,17 | 5016,17 |
| DUSP22, translocations | LOF7 | 307 |
| VAV1, translocations, point mutants | GOF7 | 117 |
| JAK1, point mutants | GOF54 | 2154 |
| STAT3, point mutants | GOF54 | 1054 |
| ATLL | ||
| VAV1, point mutants | Likely GOF14 | 1814 |
| PLCG1, point mutants | GOF14 | 3614,75 |
| PRKCB, point mutants | GOF14 | 3314,110 |
| CARD11, point mutants, CNV (gain) | GOF14 | 2414,75 |
| CD28, point mutants, CNV (gain), translocations | GOF14 | 2014,75 |
| CCR4, nonsense/point mutants | GOF14 | 2814,75 |
| PTPRM, point mutants | LOF14 | 1214 |
| STAT3, point mutations | GOF14 | 2214,75 |
| RHOA, point mutants | GOF14 /unknown29 | 814 |
| CTCL | ||
| PLCG1, point mutants (often S345F), CNV (gain) | GOF24,35,36 | 3-2024,35-37 |
| CARD11, CNV (gain), point mutants | GOF24,36 | 2924,36 |
| ZEB1, CNV (loss) | GOF36 | 6036 |
| JAK2, CNV (gain) | GOF24 | 1336 |
| STAT3, CNV (gain), point mutants | GOF24,36 | 6124 |
| STAT5B, CNV (gain), point mutants | GOF24,36 | 10-6224,36 |
| DNMT3A, CNV (loss) | LOF24 | 4-37.524,36 |
| SETD2, CNV (loss) | GOF24 | 2824 |
| ARID1A, CNV (loss) | LOF24,36 | 59-6324,36 |
| NCOR1, CNV (loss) | LOF36 | 8324 |
| RLTPR, point mutant (Q575E) | GOF24 | 724 |
| EATL/NKTCL | ||
| STAT5B, point mutants, indels | GOF34 | 2834 |
| JAK1, point mutants | GOF34 | 2334 |
| JAK3, point mutants | GOF34 | 2334 |
| SETD2, point/nonsense mutants | LOF34 | 3234 |
| BCOR, CNV (loss), point mutants | LOF85 | 3285 |
| HSTCL | ||
| STAT5B, point mutants | GOF68 | 3068 |
| STAT3, point mutants, indels | GOF68 | 968 |
| SETD2, nonsense/point mutants | LOF68 | 2568 |
| TET3, point mutants | LOF68 | 1568 |
| PTCL NOS | ||
| RHOA, point mutants | LOF12 /unknown23,29 | 12.5-4012,14,23,28 |
| VAV1, translocation, point mutants | GOF7,28 | 11-157,28 |
| DNMT3A, point mutants | LOF12 | 1212 |
| TET2, nonsense/point mutants | LOF12,25 | 11-3012,25 |
| SS | ||
| PLCG1, point mutants (often S345F), indels | GOF38 | 1138 |
| ZEB1, point/nonsense mutants | LOF38,39 | 11-5538,39 |
| TET1, CNV (loss), point mutants | LOF38 | 5038 |
| DNMT3A, CNV (loss), point mutants | LOF38 | 1838 |
| KMT2C, nonsense mutants | LOF38 | 3238 |
| KMT2B, nonsense mutants, CNV (loss) | LOF38 | 2238 |
| ARID1a, CNV (loss), point mutants | LOF38,39 | 33-4138,39 |
| NCOR1, CNV (loss), nonsense/point mutants | LOF38 | 5138 |
| Gene, mutation . | Change in activity . | Frequency, % . |
|---|---|---|
| AITL | ||
| RHOA, G17V | LOF12,31 /unknown29 | 42-6712,23,28,52,82 |
| CD28, point mutants, translocations | GOF23,41 | 10-1523,41,43,44 |
| DNMT3A, point mutants | LOF12,52 | 3-3312,52,83 |
| TET2, nonsense/point mutants | LOF12 | 13-7312,52,82,83 |
| IDH2, point mutants | Neomorphic97 | 20-4012,52,97 |
| ALK− ALCL | ||
| PTPN6, aberrant methylation and inactivation | LOF15,17 | 5016,17 |
| DUSP22, translocations | LOF7 | 307 |
| VAV1, translocations, point mutants | GOF7 | 117 |
| JAK1, point mutants | GOF54 | 2154 |
| STAT3, point mutants | GOF54 | 1054 |
| ATLL | ||
| VAV1, point mutants | Likely GOF14 | 1814 |
| PLCG1, point mutants | GOF14 | 3614,75 |
| PRKCB, point mutants | GOF14 | 3314,110 |
| CARD11, point mutants, CNV (gain) | GOF14 | 2414,75 |
| CD28, point mutants, CNV (gain), translocations | GOF14 | 2014,75 |
| CCR4, nonsense/point mutants | GOF14 | 2814,75 |
| PTPRM, point mutants | LOF14 | 1214 |
| STAT3, point mutations | GOF14 | 2214,75 |
| RHOA, point mutants | GOF14 /unknown29 | 814 |
| CTCL | ||
| PLCG1, point mutants (often S345F), CNV (gain) | GOF24,35,36 | 3-2024,35-37 |
| CARD11, CNV (gain), point mutants | GOF24,36 | 2924,36 |
| ZEB1, CNV (loss) | GOF36 | 6036 |
| JAK2, CNV (gain) | GOF24 | 1336 |
| STAT3, CNV (gain), point mutants | GOF24,36 | 6124 |
| STAT5B, CNV (gain), point mutants | GOF24,36 | 10-6224,36 |
| DNMT3A, CNV (loss) | LOF24 | 4-37.524,36 |
| SETD2, CNV (loss) | GOF24 | 2824 |
| ARID1A, CNV (loss) | LOF24,36 | 59-6324,36 |
| NCOR1, CNV (loss) | LOF36 | 8324 |
| RLTPR, point mutant (Q575E) | GOF24 | 724 |
| EATL/NKTCL | ||
| STAT5B, point mutants, indels | GOF34 | 2834 |
| JAK1, point mutants | GOF34 | 2334 |
| JAK3, point mutants | GOF34 | 2334 |
| SETD2, point/nonsense mutants | LOF34 | 3234 |
| BCOR, CNV (loss), point mutants | LOF85 | 3285 |
| HSTCL | ||
| STAT5B, point mutants | GOF68 | 3068 |
| STAT3, point mutants, indels | GOF68 | 968 |
| SETD2, nonsense/point mutants | LOF68 | 2568 |
| TET3, point mutants | LOF68 | 1568 |
| PTCL NOS | ||
| RHOA, point mutants | LOF12 /unknown23,29 | 12.5-4012,14,23,28 |
| VAV1, translocation, point mutants | GOF7,28 | 11-157,28 |
| DNMT3A, point mutants | LOF12 | 1212 |
| TET2, nonsense/point mutants | LOF12,25 | 11-3012,25 |
| SS | ||
| PLCG1, point mutants (often S345F), indels | GOF38 | 1138 |
| ZEB1, point/nonsense mutants | LOF38,39 | 11-5538,39 |
| TET1, CNV (loss), point mutants | LOF38 | 5038 |
| DNMT3A, CNV (loss), point mutants | LOF38 | 1838 |
| KMT2C, nonsense mutants | LOF38 | 3238 |
| KMT2B, nonsense mutants, CNV (loss) | LOF38 | 2238 |
| ARID1a, CNV (loss), point mutants | LOF38,39 | 33-4138,39 |
| NCOR1, CNV (loss), nonsense/point mutants | LOF38 | 5138 |
AITL, angioimmunoblastic T-cell lymphoma; ATLL, adult T-cell leukemia/lymphoma; CNV, copy number variation; CTCL, cutaneous T-cell lymphoma; EATL, enteropathy-associated T-cell lymphoma; GOF, gain of function; HSTCL, hepatosplenic T-cell lymphoma; LOF, loss of function; NKTCL, natural killer/T-cell lymphoma; NOS, not otherwise specified; SS, Sézary syndrome.