Characterization of T-ALL individuals with PTPN2 inactivation
| Individual . | Sex . | Age, y . | PTPN2 deletion* . | PTPN2 mutation . | Deregulated transcription factor† . | NUP214-ABL1‡ . | JAK1 status . |
|---|---|---|---|---|---|---|---|
| 1§ | F | 30 | PTPN2−/− | NA | TLX1 | − | wt |
| 2§ | M | 24 | PTPN2−/− | NA | TLX1 | + | wt |
| 3§ | F | 27 | PTPN2−/− | NA | TLX1 | − | wt |
| 4§ | M | 21 | PTPN2−/− | NA | TLX1 | − | wt |
| 5§ | M | 45 | PTPN2−/− | NA | TLX1 | + | wt |
| 6§ | M | 8 | PTPN2−/− | NA | TLX3 | − | c.1944A > C p.K648N |
| 7§ | M | 43 | PTPN2−/− | NA | TLX1 | − | wt |
| 8§ | M | 20 | PTPN2−/− | NA | TLX1 | − | wt |
| 9§ | F | 4 | PTPN2+/− | wt | TLX1 | + | wt |
| 10§ | M | 11 | PTPN2+/− | wt | TLX1 | − | wt |
| 11§ | F | 35 | PTPN2+/− | wt | TLX1 | − | wt |
| 12§ | F | 9 | PTPN2+/− | wt | TLX1 | + | wt |
| 13§ | F | 49 | PTPN2+/− | c.862C > T, p.R288Stop | TLX1 | − | c.1953T > C p.Y652H |
| 14 | M | 34 | PTPN2−/− | NA | TLX1 | − | wt |
| 15 | F | 42 | PTPN2+/− | wt | TLX1 | − | wt |
| 16 | F | 38 | PTPN2+/− | wt | TLX1 | + | wt |
| 17 | M | 53 | PTPN2−/− | NA | TLX1 | − | wt |
| 18 | M | 28 | PTPN2−/− | NA | TLX1 | + | wt |
| Individual . | Sex . | Age, y . | PTPN2 deletion* . | PTPN2 mutation . | Deregulated transcription factor† . | NUP214-ABL1‡ . | JAK1 status . |
|---|---|---|---|---|---|---|---|
| 1§ | F | 30 | PTPN2−/− | NA | TLX1 | − | wt |
| 2§ | M | 24 | PTPN2−/− | NA | TLX1 | + | wt |
| 3§ | F | 27 | PTPN2−/− | NA | TLX1 | − | wt |
| 4§ | M | 21 | PTPN2−/− | NA | TLX1 | − | wt |
| 5§ | M | 45 | PTPN2−/− | NA | TLX1 | + | wt |
| 6§ | M | 8 | PTPN2−/− | NA | TLX3 | − | c.1944A > C p.K648N |
| 7§ | M | 43 | PTPN2−/− | NA | TLX1 | − | wt |
| 8§ | M | 20 | PTPN2−/− | NA | TLX1 | − | wt |
| 9§ | F | 4 | PTPN2+/− | wt | TLX1 | + | wt |
| 10§ | M | 11 | PTPN2+/− | wt | TLX1 | − | wt |
| 11§ | F | 35 | PTPN2+/− | wt | TLX1 | − | wt |
| 12§ | F | 9 | PTPN2+/− | wt | TLX1 | + | wt |
| 13§ | F | 49 | PTPN2+/− | c.862C > T, p.R288Stop | TLX1 | − | c.1953T > C p.Y652H |
| 14 | M | 34 | PTPN2−/− | NA | TLX1 | − | wt |
| 15 | F | 42 | PTPN2+/− | wt | TLX1 | − | wt |
| 16 | F | 38 | PTPN2+/− | wt | TLX1 | + | wt |
| 17 | M | 53 | PTPN2−/− | NA | TLX1 | − | wt |
| 18 | M | 28 | PTPN2−/− | NA | TLX1 | + | wt |
Determined by FISH, quantitative PCR, or aCGH; −/− indicates a biallelic deletion; and +/−, a monoallelic deletion.
Positivity for TLX1 or TLX3 expression.
Positivity for NUP214-ABL1 expression or rearrangement; + indicates positive for NUP214-ABL1; and −, negative for NUP214-ABL1.
Patient results have been published previously and are consecutively numbered.15
NA indicates not applicable; and wt, wild-type.