Characteristics of 3 patients with T-ALL and the T-ALL cell line LOUCY with the SET-NUP214 fusion transcript
| Patient no. . | Sex . | Age, y . | WBC, ×109/L . | Blasts, % . | Immune phenotype* . | CDKN2A† . | NOTCH1 mutation . | NUP214-ABL1 . | Other chromosomal abnormalities by array-CGH . | Relapse CCR, mo . |
|---|---|---|---|---|---|---|---|---|---|---|
| 126 | F | 15.3 | 213 | 98 | Mature | +/+ | L1601Q | − | None | CCR, 83+ |
| 125 | F | 10.6 | 142 | 94 | Mature | +/+ | L1601P | − | del(16)(p13.13) | CCR, 83+ |
| 120 | F | 17.1 | 15 | 93 | Cortical | −/− | N1683D, Q2460* (stop) | + | del(9)(p21.2), monosomy 21 | CCR, 37+ |
| LOUCY | F | 38 | NA | NA | Mature | +/− | ND | − | del(5)(q14.3q31.1), del(5)(q33.1), del(6)(q16.4), del(9)(p21.2p21.3), del(12)(p13.1p13.3), dup(13)(q31.3), del(16)(p12.3) | NA |
| Patient no. . | Sex . | Age, y . | WBC, ×109/L . | Blasts, % . | Immune phenotype* . | CDKN2A† . | NOTCH1 mutation . | NUP214-ABL1 . | Other chromosomal abnormalities by array-CGH . | Relapse CCR, mo . |
|---|---|---|---|---|---|---|---|---|---|---|
| 126 | F | 15.3 | 213 | 98 | Mature | +/+ | L1601Q | − | None | CCR, 83+ |
| 125 | F | 10.6 | 142 | 94 | Mature | +/+ | L1601P | − | del(16)(p13.13) | CCR, 83+ |
| 120 | F | 17.1 | 15 | 93 | Cortical | −/− | N1683D, Q2460* (stop) | + | del(9)(p21.2), monosomy 21 | CCR, 37+ |
| LOUCY | F | 38 | NA | NA | Mature | +/− | ND | − | del(5)(q14.3q31.1), del(5)(q33.1), del(6)(q16.4), del(9)(p21.2p21.3), del(12)(p13.1p13.3), dup(13)(q31.3), del(16)(p12.3) | NA |
WBC indicates white blood cells; CCR, continued complete remission; ND, none detected; and NA, not available.
According to the European Group of Immunological Characterisation of Leukemia (EGIL) classification.
Status of the CDKN2A locus: +/+, no deletion; +/−, hemizygous deletion; −/−, homozygous deletion.