Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights

Noah Federman, MD; Kathleen M. Sakamoto, MD, PhD

Diagnosis

FA cells are characteristically hypersensitive to DNA crosslinking agents, and diagnosis is established by confirming an increased chromosomal breakage in peripheral blood lymphocytes DNA in the presence of diepoxybutane (DEB) or mitomycin C (MMC) -- the so-called "DEB/MMC stress test.^[14]" The DEB test should be performed on any patient with the clinical features of FA. Also, any patient with aplastic anemia or MDS who is going to receive conditioning for a stem cell transplant (SCT) should be tested, whether or not other congenital anomalies are present, because disastrous side effects from the toxicity of conditioning may result from the underlying hypersensitivity of FA cells to genotoxins.

New developments in diagnosis include the use of retrovirally cloned FA cDNAs that can subtype the patient's particular complement of FA protein. Chromosome breakage tests can now be performed on fetal blood, chorionic villus, and amniotic cells, which offer prenatal diagnosis of FA.^[15] Also, flow cytometry can be used to diagnose FA by demonstrating a prolonged progression and arrest in the G2 phase of the cell cycle.^[16] For a complete list of FA testing and treatment centers, visit Fanconi Anemia Research Fund, Inc .

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Cite this: Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights - Medscape - Apr 06, 2005.

Introduction
Clinical Features
New Insights Into the Genetic and Molecular Basis of FA
Diagnosis
Management
Gene Therapy
Conclusion
References

Congenital Anomalies Associated With FA
Congenital Anomaly	Approximate Percentage of FA Patients Affected
Skeletal (radial ray, hip, rib, and vertebral) anomalies	70%
Skin pigmentation (café au lait, hypopigmentation)	60%
Short stature	60%
Eyes (hypertelorism, hypotelorism, microphthalmia, ptosis, or epicanthal folds)	35% to 40%
Genitourinary anomalies (ectopic kidney, horseshoe kidney, dysplastic kidney, or hypospadias)	35%
Neurologic anomalies (microcephaly, mental retardation, hydrocephalus, or deafness)	30%
Gastrointestinal anomalies (imperforate anus, esophageal atresia, duodenal atresia)	10% to 15%
Cardiac anomalies (patent ductus arteriosus, atrial septal defects, ventricular septal defects, tetralogy of Fallot)	10% to 15%
No anomalies	30%

FA = Fanconi's anemia

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Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights

Diagnosis

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