Fanconi's anemia. A family study with 20-year follow-up including associated breast pathology

A brother and sister with Fanconi's anemia, having typical skeletal deformity and characteristic chromosomal breaks in their lymphocytes and who followed the typical clinical course, with progressive bone marrow insufficiency beginning late in the first decade, are described. The natural history of the disease before chemotherapy was available is contrasted with the response to intermittent courses of anabolic steroids during a continuous 20-year follow-up. The female patient developed a carcinoma of the breast at the age of 26, from which she died 5 years later. This neoplasm may reflect increased susceptibility of cells with proven chromosomal abnormality to the influence of carcinogens. Her brother required repeated surgery for painful, but benign, breast masses. The explanation for the latter lesion is unknown but may be related to endocrine disturbances occurring in patients with Fanconi's anemia.