Characteristics and outcomes of FA patients with and without trisomies or tetrasomies of chromosomal segment 3q26-3q29
| . | Total . | With chromosome 3 aberration . | Without chromosome 3 aberration . |
|---|---|---|---|
| n | 53 | 18 | 35 |
| Age, median (range), mo | 141 (34-463) | 149 (95-463) | 125 (34-442) |
| Sex, no. | |||
| Male | 28 | 11 | 17 |
| Female | 25 | 7 | 18 |
| Complementation group, no. | |||
| FANCA | 28 | 10 | 18 |
| FANCC | 4 | 4 | 0 |
| FANCG | 8 | 3 | 5 |
| Unknown | 13 | 1 | 12 |
| Genotypic reversion* | 3 | 1 | 2 |
| Outcome, no. | |||
| MDS†,‡ | 9 | 9 | 0 |
| AML1-153 | 5 | 4 | 1 |
| MDS+AML† | 14 | 13 | 1 |
| Alive1-155 | 44 | 11 | 33 |
| HSCT | 20 | 12 | 8 |
| . | Total . | With chromosome 3 aberration . | Without chromosome 3 aberration . |
|---|---|---|---|
| n | 53 | 18 | 35 |
| Age, median (range), mo | 141 (34-463) | 149 (95-463) | 125 (34-442) |
| Sex, no. | |||
| Male | 28 | 11 | 17 |
| Female | 25 | 7 | 18 |
| Complementation group, no. | |||
| FANCA | 28 | 10 | 18 |
| FANCC | 4 | 4 | 0 |
| FANCG | 8 | 3 | 5 |
| Unknown | 13 | 1 | 12 |
| Genotypic reversion* | 3 | 1 | 2 |
| Outcome, no. | |||
| MDS†,‡ | 9 | 9 | 0 |
| AML1-153 | 5 | 4 | 1 |
| MDS+AML† | 14 | 13 | 1 |
| Alive1-155 | 44 | 11 | 33 |
| HSCT | 20 | 12 | 8 |
FANCA, FANCC, and FANCG indicate Fanconi anemia complementation groups A, C, and G, respectively; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; and HSCT, hematopoietic stem cell transplantation.
Spontaneous reversion of the cellular FA phenotype in lymphocytes by back mutation or gene conversion in compound heterozygotes.
P < .001, Fisher exact test (2-sided).
MDS was defined according to the French-American-British (FAB) classification, and as described elsewhere.6Eight of 9 MDS patients presented 3% to 26% blasts in the marrow.
AML was defined by more than 30% blasts in the marrow.
P = .005, Fisher exact test (2-sided).