Table 1.
Biologic and molecular features of the 26 CLL patients harbouring somatic TP53 alterations.
| ID# | cDNA variant* | Protein variant* | VAF%a | del(17p) | del(13q) | +12 | del(11q) | CD38 | ZAP-70 | IGHVb | NOTCH1 | SF3B1 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 15 patients with Mut/noDel | ||||||||||||
| MS0273 | c.524G>A | p.Arg175His | 11.7 | − | + | − | − | − | − | M | WT | WT |
| CA0082 | c.638G>T | p.Arg213Leu | 7.7 | − | + | − | − | − | − | M | WT | WT |
| CF0003 | c.833C>G | p.Pro278Arg | 4.1 | − | + | − | − | − | − | M | WT | WT |
| GM0252 | c.584T>C | p.Ile195Thr | 23.9 | − | + | − | − | − | + | M | WT | WT |
| MG0248 | c.844C>T | p.Arg282Trp | 44.6 | − | + | − | − | − | + | M | WT | WT |
| DD0478 | c.568_570delCCT | p.Pro191del | 18.3 | − | + | − | − | − | + | M | WT | WT |
| GC0448 | c.742C>T | p.Arg248Trp | 2.8 | − | + | − | + | − | − | M | WT | WT |
| PA0254 | c.481G>A | p.Ala161Thr | 38.0 | − | + | − | − | − | + | M | WT | WT |
| AR0222 | c.578A>G | p.His193Arg | 41.5 | − | + | − | − | − | − | M | WT | WT |
| CG0620 | c.626_627delGA | p.Arg209fs | 48.7 | − | + | − | − | − | − | UM | WT | WT |
| AA0396 | c.470T>A | p.Val157Asp | 4.4 | − | + | − | − | − | + | UM | WT | WT |
| CR0115 | c.338T>C | p.Phe113Ser | 2.0 | − | − | − | − | − | − | M | WT | WT |
| AG0464 | c.517G>A | p.Val173Met | 48.5 | − | + | − | − | − | − | M | WT | WT |
| SG0168 | c.260_261dupC | p.Ala88fs | 34.8 | − | + | − | − | − | − | M | WT | WT |
| DA0455 | c.818G>A | p.Arg273His | 18.0 | − | − | − | − | − | + | M | WT | WT |
| 9 patients with Mut/Del | ||||||||||||
| CR0203 | c.772G>T | p.Glu258Ter | 97.7 | + | − | + | − | + | + | UM | Mutd | WT |
| IF0044 | c.842A>G | p.Asp281Gly | 95.1 | + | − | − | − | + | + | UM | WT | WT |
| DA0094 | c.833C>G | p.Pro278Arg | 98.3 | + | + | − | − | + | + | UM | WT | WT |
| CS0290 | c.814G>T | p.Val272Leu | 36.6 | + | − | − | − | − | − | M | WT | WT |
| DG0193 | c.584T>C | p.Ile195Thr | 77.3 | + | + | − | − | − | + | UM | Mutd | WT |
| FD0404 | c.824G>A | p.Cys275Tyr | 63.6 | + | − | − | − | + | + | UM | Mutd | WT |
| PG0028 | c.524G>A | p.Arg175His | 16.4 | + | + | − | − | + | + | UM | WT | WT |
| CG0622 | c.497C>A | p.Ser166Ter | 11.0 | + | + | − | − | + | + | M | WT | WT |
| DS0264 | c.622_623insc | p.Asp208Glufs | 95.1 | + | − | − | − | − | − | UM | WT | WT |
| 2 patients with noMut/Del | ||||||||||||
| CP0036 | WT | WT | n.a | + | − | − | − | + | − | M | WT | WT |
| NT0628 | WT | WT | n.a | + | − | − | − | + | + | UM | WT | WT |
#Patient identification; *Based on HGVS (Human Genome Variation Society) nomenclature; aVAF, Variant allele frequency; bIGHV-UM, unmutated; bIGHV-M, mutated; cinsertion of AATTTGGATG; dMut, NOTCH1 coding mutation c.7541_7542delCT, p.P2515fs*4; + 12, trisomy 12; WT, wild-type; n.a., not applicable. Significant P-values regarding the comparison of Mut/noDel vs Mut/Del patients for the presence of del(13q), CD38, UM-IGHV and NOTCH1 mutation are the following: P = 0.06, P = 0.0006, P = 0.003 and P = 0.0415, respectively.