Factors that should trigger high clinical suspicion for FA in adolescent and young adult patients presenting with bone marrow failure or myeloid malignancies
| Clinical features . |
|---|
| • Positive family history of bone marrow failure • Long-standing cytopenias • Characteristic congenital abnormalities including VACTERL-H, café au lait, short stature, microcephaly • Myeloid malignancy with +1q, +3q, or −7/del7q cytogenetics or FISH • Excessive toxicity with chemotherapy • Unusual solid tumor for young adults (oral, head/neck, liver, stomach, genital) |
| Clinical features . |
|---|
| • Positive family history of bone marrow failure • Long-standing cytopenias • Characteristic congenital abnormalities including VACTERL-H, café au lait, short stature, microcephaly • Myeloid malignancy with +1q, +3q, or −7/del7q cytogenetics or FISH • Excessive toxicity with chemotherapy • Unusual solid tumor for young adults (oral, head/neck, liver, stomach, genital) |
FISH, fluorescence in situ hybridization.