MALIGNANCY IN FANCONI APLASTIC ANEMIA; SINGLE CENTER EXPERIENCE

Background: Fanconi Aplastic Anemia (FAA) significantly increases the risk of developing malignancies due to defective DNA repair and genomic instability.Hematological malignancies such as acute myeloblastic leukemia, acute lymphoblastic leukemia and myelodysplastic syndrome can be seen in childhood and adolescence.Solid tumors such as adenocarcinomas can be seen in the second decade of life.Materials and Methods: The medical records of 37 FAA patients who were being followed up in our center since 1990 were retrospectively reviewed.Results: Malignancy was seen in a total of 8 patients (21.6 %), 4 female, with a median age of 4 (2-10) years.While all of the patients had microcephaly, microphtalmy (n=2), external ear way atresia (n=1), anterior located anus and coxigea atresia (n=1), finger anomalies (n=3), ectopic kidney (n=1).All of the patients had homozygosis or compound heterozygosis FANCA mutations.Anapolon treatment was given to 6 patients for 7 months to 2 years.Six of the patients received HSCT due to MDS (n=1), AML (n=2), BMF (n=3).Before HSCT the 2 AML patients were treated with chemotherapy without dose reduction.Two patients who were planned to be transplanted, one patient had hepatocellular carcinoma and one patient had hepatoma before HSCT.Although dose reduction was done, the patient with HCC died due to toxicity.Anapolon was stopped in patient who had hepatoma.Two of the patients who were transplanted due to BMF developed ALL six and eleven months after HSCT and died due to resistant disease.No dose reduction was done to these patients.The patient who had HSCT after AML died due to HSCT toxicity.And one patient died due to mucormikosis while waiting for HSCT.Three out of 8 patients are alive and in follow up at a median of 92 (48-220) months.Conclusions: Malignancy is a devastating complication of FAA, driven by genomic instability from defective DNA repair.As survival improves with the help of supportive care, especially after HSCT, the malignancy risk increases.Close follow up is important to early diagnosis and better survival rates.