Table 1.
FA patient characteristics at moment of bone marrow puncture
| Individual | Age (years) | Affected Fanconi anemia gene | Fanconi anemia driver mutations | HSC clones | Bone marrow cellularity | Hematological status | Cytogenetic aberrations |
|---|---|---|---|---|---|---|---|
| PMCFANC01a | 7.9–8.4 | FANCC | c.67delG; c.67delG | 1 | moderate/low | normal/mild cytopenia | none |
| PMCFANC02 | 15.9 | FANCD1/BRCA2 | c.5213_5216delCTTA; c.9302T>G |
8 | moderate | normal | none |
| PMCFANC03 | 15 | FANCA | c.1361_1370delCCTCCTTTGG; c.1361_1370delCCTCCTTTGG | 0 | low | mild cytopenia | none |
| PMCFANC06 | 17 | FANCA | c.67delG; c.67delG | 0 | moderate | normal | none |
| PMCFANC08 | 10.3 | FANCA | c.2151+1dup; c.2121delC | 0 | moderate | mild cytopenia | none |
| IBFM35 | 14.8 | FANCA | c.3639delT; c.3639delT |
0 | N/D | AML | N/A |
a
Bone marrow aspirates from PMCFANC01 were collected at two different time points. HSC, hematopoietic stem cell.