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) |
| . | 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.