Table 1.
RHOA mutational status of included studies (A) and association with recurrent mutations in wildtype RHOA AITL cases (B)
| (A) Author | Sequencing method | AITL cases | No detectable mutations | Wildtype RHOA | Mutant RHOAa |
|---|---|---|---|---|---|
| Abate et al.6 | RNA-seq, TDS (VAV1) | 60 | 15 | 20 | 25 |
| Nguyen et al.7 2017 | TDS (71 genes) | 48 | 6 | 9 | 33 |
| Vallois et al.9 | TDS (69 genes) | 72 | 8 | 18 | 46 |
| Yoo et al.10b | TDS (70 genes) | 29 | 3 | 5 | 21 |
| Palomero et al.8c | RNA-seq, TDS (13 genes), allele-specific PCR (RHOA) | 30 | 1 | 8 | 21 |
| Total | 239 | 33 (13.8%) | 60 (25.1%) | 146 (61.1%) | |
| (B) Gene | Mutant RHOA AITL cases/totala | Wildtype RHOA AITL cases/totald | Odds ratio | 95% CI | p-value |
| TET2 c, e | 101/146 (69.2%) | 33/93 (35.5%) | 3.46 | 1.92, 6.22 | <0.001 |
| DNMT3A c, e | 34/146 (23.3%) | 10/93 (10.8%) | 2.14 | 0.99, 4.66 | 0.076 |
| IDH2 c, e | 51/146 (34.9%) | 9/93 (9.7%) | 6.68 | 2.89, 15.45 | <0.001 |
| CD28 | 14/92 (15.2%) | 7/69 (10.1%) | 1.73 | 0.64, 4.73 | 0.399 |
| CD28 f | 24/92 (26.1%) | 8/69 (11.6%) | 2.60 | 0.98, 6.86 | 0.093 |
| FYN c | 5/113 (4.4%) | 3/78 (3.8%) | 1.38 | 0.30, 6.29 | 0.972 |
| PLCG1 | 6/92 (6.5%) | 6/69 (8.7%) | 0.85 | 0.26, 2.85 | 0.960 |
| STAT3 | 2/92 (2.2%) | 3/69 (4.3%) | 0.68 | 0.13, 3.69 | 0.979 |
| VAV1 | 2/92 (2.2%) | 5/69 (7.2%) | 0.27 | 0.046, 1.56 | 0.268 |
TDS targeted deep sequencing, CI confidence interval
aIncluding non-G17V RHOA mutations
bOnly 29/45 AITL cases were analyzed using TDS
cOnly 30/35 AITL cases were analyzed by allele-specific PCR and targeted deep sequencing. Only one case showed no mutations in both techniques (no detectable mutations). RNA sequencing data not included due to uncertainty of diagnosis
dIncluding cases with no detectable mutations
e Missing data regarding mutational status of TET2 (n = 14), DNMT3A (n = 14) and IDH2 (n = 10) from Vallois et al. included as not mutated
fIncluding cases with CTLA4–CD28 gene fusion