Pediatric Hematology Oncology
Contributions
Type: Publication Only
Background
Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity.
Aims
The aim of this study is to characterize clinical manifestations and treatment of Turkish patients with Fanconi anemia (FA) at our center.
Methods
The medical records of 16 FA patients diagnosed at Istanbul University, Cerrahpasa Medical Faculty from 2006 to 2014 were retrospectively reviewed.
Results
The median age at diagnosis was 6,5 years (6 months-12 years). Nine of them were male and 7 of them were female (M/F: ). Two of them were brother and sister. All patients showed evidence of marrow failure and one or more physical stigmata. Most common findings were cafe-u-lait, hypopigmented lesions, thumb anomaly and renal anomalies. Chromosome breakage tests were positive in 12 out of 12 available patients and 2 of them had mosaism in the chromosome breakage tests. The median follow-up duration was 63 (7-112) months. None of the patients underwent stem cell transplantations (SCTs). All patients were alive by the end of the study. None of the patients developed leukemia. Androgens were used in 7 patients for treatment. Two of the patients received erythrocyte suspension and 1 of them received thrombocyte suspension.
Summary
We provide information of FA patients at our center. A nation-wide FA registry that includes information of the genotypes of is required to further characterize ethnic differences and provide the best standard of care for FA patients.
Session topic: Publication Only
Type: Publication Only
Background
Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity.
Aims
The aim of this study is to characterize clinical manifestations and treatment of Turkish patients with Fanconi anemia (FA) at our center.
Methods
The medical records of 16 FA patients diagnosed at Istanbul University, Cerrahpasa Medical Faculty from 2006 to 2014 were retrospectively reviewed.
Results
The median age at diagnosis was 6,5 years (6 months-12 years). Nine of them were male and 7 of them were female (M/F: ). Two of them were brother and sister. All patients showed evidence of marrow failure and one or more physical stigmata. Most common findings were cafe-u-lait, hypopigmented lesions, thumb anomaly and renal anomalies. Chromosome breakage tests were positive in 12 out of 12 available patients and 2 of them had mosaism in the chromosome breakage tests. The median follow-up duration was 63 (7-112) months. None of the patients underwent stem cell transplantations (SCTs). All patients were alive by the end of the study. None of the patients developed leukemia. Androgens were used in 7 patients for treatment. Two of the patients received erythrocyte suspension and 1 of them received thrombocyte suspension.
Summary
We provide information of FA patients at our center. A nation-wide FA registry that includes information of the genotypes of is required to further characterize ethnic differences and provide the best standard of care for FA patients.
Session topic: Publication Only