Table 1. Characteristics of 38 primary T-ALL samples showing PHF6 inactivation.
PHF6 lesion | |||||||||
---|---|---|---|---|---|---|---|---|---|
ID | Sex | Age | WBC (×109/l) | Immuno-phenotype | Genetic subtype | NOTCH1 | Type of alteration | Predicted protein | Germline/somatic |
PHF6 deletions | |||||||||
1 | M | Ped | 77 | Cortical | TLX3 | mut | Deletion (0.55 Mb) | NA | |
2 | M | Ped | 46 | Pre-T | TLX3 | wt | Deletion (0.23 Mb) | NA | |
3 | M | Ped | 31 | Pre-T | TLX3 | NA | Deletion (1.50 Mb) | NA | |
4 | M | Ped | 2 | Pre-T | unknown | NA | Deletion (0.27 Mb) | NA | |
5 | M | Ped | NA | Cortical | HOXA | NA | Deletion (1.90 Mb) | Somatic | |
6 | M | Ped | NA | Cortical | unknown | NA | Deletion (0.20 Mb) | Somatic | |
7 | M | Ped | NA | Cortical | TLX1 | NA | Deletion (0.08 Mb) | Somatic | |
8 | M | Adult | NA | Pre-T | Unkn | NA | Deletion (0.11 Mb) | NA | |
PHF6 mutations | |||||||||
9 | M | Ped | 185 | Cortical | TLX3 | wt | Nonsense | p.G122X | NA |
10 | M | Ped | 417 | Pre-T | TLX3 | mut | Nonsense | p.R116X | NA |
11 | F | Ped | 280 | Pre-T | TLX1 | mut | Frameshift | p.F172fs | NA |
12 | M | Ped | 405 | Pre-T | TLX3 | mut | Frameshift | p.Y303fs | NA |
13 | M | Ped | 159 | Pre-T | TLX1 | mut | Nonsense | p.K235X | NA |
14 | M | Ped | 500 | Pre-T | TLX3 | mut | Frameshift | p.A41fs | NA |
15 | M | Ped | 347 | Cortical | HOXA | mut | Nonsense | p.K274X | NA |
16 | M | Ped | 129 | Cortical | unknown | mut | Frameshift | p.D333fs | NA |
17 | M | Ped | 174 | Cortical | TLX3 | mut | Nonsense | p.R225X | NA |
18 | M | Ped | 27 | Cortical | TLX1 | wt | Nonsense | p.R116X | NA |
19 | M | Ped | 310 | Cortical | TAL1 | mut | Missense | p.C283R | NA |
20 | M | Ped | 189 | Cortical | TAL1 | mut | Frameshift | p.C28fs | NA |
21 | M | Adult | 170 | Cortical | TLX3 | wt | Frameshift | p.H44fs | NA |
22 | M | Adult | 21 | Cortical | TLX1 | mut | Frameshift | p.H43fs | Somatic |
22 | M | Adult | 21 | Cortical | TLX1 | mut | Frameshift | p.H43fs | Somatic |
23 | M | Adult | NA | Pre-T | TLX3 | mut | Frameshift | p.T98fs | Somatic |
24 | M | Adult | 14 | Pre-T | TLX3 | wt | Frameshift | p.Y105fs | NA |
25 | M | Adult | 28 | Mature | TLX3 | wt | Frameshift | p.S158fs | NA |
26 | M | Adult | NA | Cortical | TLX3 | mut | Missense | p.C215Y | NA |
27 | M | Adult | NA | Pre-T | Unkn | mut | Missense | p.C215F | NA |
28 | M | Adult | 31 | Cortical | Unkn | mut | Missense | p.C215Y | NA |
29 | M | Adult | NA | Mature | TLX3 | mut | Missense | p.T300A | Somatic |
30 | M | Adult | 21 | Cortical | TLX1 | wt | Missense | p.A311P | NA |
31 | M | Adult | 30 | Mature | Unkn | wt | Missense | p.C280Y | NA |
32 | M | Adult | 23 | Cortical | Unkn | wt | Missense | p.H329R | Somatic |
33 | M | Ped | NA | NA | TAL1 | NA | Nonsense | p.R257X | Somatic |
34 | M | Ped | NA | NA | TLX1 | NA | Frameshift | p.S191fs | Somatic |
35 | M | Adult | NA | NA | TLX1 | NA | Missense | p.C215F | Somatic |
36 | M | Adult | NA | NA | TLX1 | NA | Nonsense | p.Y303X | NA |
37 | M | Adult | NA | NA | Unkn | NA | Nonsense | p.R274X | NA |
38 | M | Adult | NA | NA | Unkn | NA | Frameshift | p.H135fs | NA |
Ped, pediatric; NA, not available; mut, mutated; wt, wild-type.