Table 3. Laboratory characteristics of APL patients with atypical morphologic variants and/or with abnormal RARα fusion genes other than PML-RARα and/or abnormal karotyping other than t(15; 17).
| Diagnosis | Morphology | Fusion gene (PCR) | Karyotyping | FISH: Fluorescence mode | |
|---|---|---|---|---|---|
| Patient 1 | APL | typical large and numerous cytoplasmic granules | PML-RARα-L | 46,xy,ins(15;17) | PML-RARα: 1Y2R1G |
| Patient 2 | APL | non or hypogranular cytoplasm | PML-RARα-S | 46,xx,t(15;17) | PML-RARα: 2Y1R1G |
| Patient 3 | APL | myelocytes and metamyelocytes with reducing cytoplasmic granules | NPM-RARα | 46,xy,t(5;17),7p-,-16 [8]/46,idem,+20 [5] | RARα:1Y1R1G |
| Patient 4 | APL | typical large and numerous cytoplasmic granules | PML-RARα-S | 46,xx,t(15;2;17) | PML-RARα:1Y2R2G |
| Patient 5 | APL | typical large and numerous cytoplasmic granules | PML-RARα-L | 46,xy,t(15;17;17)(q22;q25;q21) | PML-RARα:1Y2R2G |
| Patient 6 | APL | typical large and numerous cytoplasmic granules | PML-RARα-L | 46,xx,t(15;17) | PML-RARα:1Y2R2G |
| Patient 7 | APL | hypocellular BM and hypogranular cytoplasm | PML-RARα | 46,xx,t(7;15;17) | PML-RARα:1Y2R2G |
| Patient 8 | AML-M5 | no cytoplasmic granules | ND | 46,xx | ND |
Note: ND, not detected.