Table 1.
Genetic alterations comprising pathogenic mutations and VOUSs (variants of unknown significance) detected in the patient's PTLD specimen.
| Gene | Protein change | cDNA change | Categorization | Allele frequency |
|---|---|---|---|---|
| ABL1 | p.G882Afs∗12 | c.2648delG | VOUS | 36.3 |
| ASXL1 | p.G645Vfs∗58 | c.1934delG | Pathogenic | 18.63 |
| ASXL1 | p.A1016V | c.C3047T | VOUS | 32.09 |
| ASXL1 | p.C1240F | c.G3719T | VOUS | 42.79 |
| ATM | p.E871K | c.G2611A | VOUS | 37.24 |
| BCOR | p.P1621Qfs ∗ 53 | c.4862delC | Pathogenic | 31.07 |
| BCOR | p.L1333M | c.C3997A | VOUS | 57.17 |
| BCOR | p.P407L | c.C1220T | VOUS | 52.6 |
| BCOR | p.P178L | c.C533T | VOUS | 19.94 |
| BCORL1 | p.T39M | c.C116T | VOUS | 23.36 |
| BCORL1 | p.R500H | c.G1499A | VOUS | 63.21 |
| BRINP3 | p.A437T | c.G1309A | VOUS | 36.36 |
| CDH2 | p.L870M | c.T2608A | VOUS | 34.9 |
| CDKN2A | p.R58 ∗ | c.C172T | Pathogenic | 38.3 |
| DNMT3A | p.A70V | c.C209T | VOUS | 35.05 |
| ETV6 | p.R259W | c.C775T | VOUS | 38.87 |
| EZH2 | p.Y330C | c.A989G | VOUS | 53.56 |
| FBXW7 | p.R441Q | c.G1322A | VOUS | 45.79 |
| KIT | p.P468L | c.C1403T | VOUS | 36.26 |
| KIT | p.N564D | c.A1690G | VOUS | 35.63 |
| NF1 | p.P464L | c.C1391T | VOUS | 38.12 |
| NF1 | p.Q2147 ∗ | c.6439_6441delinsTAG | Pathogenic | 35.66 |
| RUNX1 | p.R250C | c.C748T | VOUS | 38.67 |
| SETBP1 | p.R54H | c.G161A | Likely benign | 45.23 |
| SETBP1 | p.G1392S | c.G4174A | VOUS | 39.64 |
| SETBP1 | p.R589∗ | c.C1765T | VOUS | 38.75 |
| SF1 | p.N200Y | c.A598T | VOUS | 39.27 |
| SMC1A | p.R1066H | c.G3197A | VOUS | 25.34 |
| STAG2 | p.S853R | c.T2559A | VOUS | 14.12 |
| TET2 | p.A347V | c.C1040T | VOUS | 38.03 |
| TET2 | p.V1900I | c.G5698A | VOUS | 36.76 |
| TP53 | p.G245S | c.G733A | Pathogenic | 38.4 |
| TP53 | p.E56K | c.G166A | VOUS | 40.77 |
| TP53 | p.R306 ∗ | c.C916T | Pathogenic | 40.02 |
| U2AF2 | p.R44H | c.G131A | VOUS | 20.15 |
ABL1: Abelson Tyrosine Kinase; ASXL1: Additional Sex Combs-Like 1; BCOR: BCL6 Corepressor; BCORL1: BCL6 Corepressor-Like 1; BRINP3: BMP/Retinoic Acid Inducible Neural Specific 3; CDH2: Cadherin 2; CDKN2A: cyclin-dependent kinase inhibitor 2A; DNMT3A: DNA methyltransferase 3 alpha; ETV6: ETS (erythroblast transformation-specific) variant 6; EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit; FBXW7: F-Box and WD Repeat Domain Containing 7; KIT: KIT Protooncogene Receptor Tyrosine Kinase; NF1: Neurofibromin 1; RUNX1: Runt Related Transcription Factor 1; SETBP1: SET Binding Protein 1; SF1: Splicing Factor 1: SMC1A: Structural Maintenance of Chromosomes 1A; STAG2: Stromal Antigen 2: TET2: Tet Methylcytosine Dioxygenase 2: TP53: Tumor Protein P53; U2AF2: U2 Small Nuclear RNA Auxiliary Factor 2.