Profile of the Patients With an Acquired ATRA-Resistance Who Had Missense Mutations in the RARα/E-Domain of the PML/RARα Chimeric Gene
| Case No. . | Age/Sex . | PML/RARα Isoform . | ATRA Therapy Before Relapse . | ATRA Sensitivity . | Mutations* . | ||
|---|---|---|---|---|---|---|---|
| Initial . | Relapse . | DNA . | Amino Acid . | ||||
| 1 | 10 yr/M | Short form | Yes† | NE | No | G815A | Arg272Gln |
| 2 | 10 yr/M | Short form | Yes‡ | Yes | No | A889T | Met297Leu |
| Case No. . | Age/Sex . | PML/RARα Isoform . | ATRA Therapy Before Relapse . | ATRA Sensitivity . | Mutations* . | ||
|---|---|---|---|---|---|---|---|
| Initial . | Relapse . | DNA . | Amino Acid . | ||||
| 1 | 10 yr/M | Short form | Yes† | NE | No | G815A | Arg272Gln |
| 2 | 10 yr/M | Short form | Yes‡ | Yes | No | A889T | Met297Leu |
Abbreviation: NE, not evaluated.
The position of DNA or amino acids was numbered according to the sequence of RARα cDNA or protein, respectively.
Case no.1 received a prolonged ATRA therapy (for 7 months) after chemotherapy-induced hematological remission.
Case no. 2 underwent alternative treatment with ATRA and chemotherapy for 11 months after complete remission induced by ATRA therapy.