Table 1.
Summary of genotypes and clinical characteristics of the patients studied
| Total | ALDH2 genotype | |||
|---|---|---|---|---|
| GG | GA | AA | ||
| No. of cases | 64 | 36 | 25 | 3 |
| Mutated FA gene* | ||||
| FANCA | 39 | 26† | 11 | 2 |
| FANCG | 15 | 7 | 8 | — |
| FANCI | 2 | — | 2 | — |
| FANCM | 1 | — | 1 | — |
| FANCP | 2 | — | 1 | 1 |
| Unknown | 5 | 3 | 2 | — |
| Disease | ||||
| Aplastic anemia | 2 | 2 | — | — |
| Severe aplastic anemia | 40 | 21 | 19 | — |
| MDS/AML | 22 | 13 | 6 | 3‡ |
| Tongue cancer | 2 | 1 | 1 | — |
| Median months of onset (range) | ||||
| BMF | 52 (0-297) | 72 (27-297) | 28 (7-87) | 0 (0-7) |
| MDS/AML | 118 (4-384) | 156 (61-384) | 85 (41-192) | 4 (4-12) |
| No. of cases with SCT (%) | 58 (91) | 33 (92) | 23 (92) | 2 (67) |
| Median months at SCT (range) | 118 (12-448) | 130 (52-448) | 86 (28-248) | 25 (13-36) |
–, no case was found.
*
Mutations found in the patients were listed in supplemental Table 1. Some of them were presumptive because their functional significance has not been determined.
†
Somatic mosaicism due to reversion was confirmed in 2 cases and suspected in 1 case.
‡
In these cases, onset of severe aplastic anemia and MDS was essentially simultaneous.