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Fanconi anemia in Israel
Clinical Features
The median age at the time of diagnosis of FA was 6 years (range: 0-26.5); 20% were born small for the gesta- tional age, and 57% fit criteria for short stature. The majority of patients (90%) had at least one congenital anomaly. More than half had café-au-lait spots (52.3%) followed by renal anomalies (39.6%). Of the 18% of the patients with hearing loss, all had a conductive compo- nent (Table 2).
Previous publications have reported an association between the presence or absence of radial ray anomalies and a five-item CABS on disease prognosis.10,12 Five-item CABS were calculated for each patient,10 resulting in 41 patients with CABS 0, an additional 41 patients with CABS 1, 22 patients with CABS 2, five patients with CABS 3 and one patient each with CABS 4 and CABS 5.
There was no correlation between the CAB score and sur- vival (Figure 1B). In our cohort, 82% of the patients devel- oped BMF, of which 18% fit criteria for severe BMF. All patients with higher CABS (3-5) exhibited BMF with the exception of one patient who developed infant AML and was transplanted at the age of five months. No association was found between radial ray anomalies and BMF devel- opment.
Malignancy
During the follow-up period of this patient cohort, 30% developed myelodysplastic syndrome (MDS), leukemia and/or solid tumors (Table 3). The mean age for the first event of MDS was 13.3 years (standard deviation [SD] 8.6), for leukemia 10.8 years (SD 6.2) and for solid tumors 26.6 years (SD 4.9). No significant difference was detected
A
B
Figure 1. Survival curves for patients with Fanconi anemia (FA) in Israel, calculating the proportion of live patients by age using the Kaplan-Meier methods. (A) Survival for the whole cohort. (B) Survival divided by cab score 0 (blue), 1 (red) or greater than 1 (green). No significant difference was found between the groups.
haematologica | 2020; 105(7)
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