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March 1978

Neurofibromatosis and Leukemia

Author Affiliations

Fellow in Pulmonary Medicine Children's Hospital Medical Center Boston, MA 02115
Clinical Genetics Section Clinical Epidemiology Branch National Institutes of Health Bethesda, MD 20014
Director of Pediatric Hematology The Johns Hopkins Hospital Baltimore, MD 21208

Am J Dis Child. 1978;132(3):321. doi:10.1001/archpedi.1978.02120280105027

Sir.—The recent article by Drs Reich and Wiernik (Am J Dis Child 103:888-889, 1976) suggests that neurofibromatosis is associated with unusual types of childhood leukemias. We wish to add a report of a girl with generalized neurofibromatosis in whom acute lymphoblastic leukemia developed, which is the predominant cell type of childhood leukemia.

Our patient was diagnosed in 1972 at 12 years of age as having typical acute lymphoblastic leukemia. Physical findings were consistent with leukemia (petechiae, generalized lymphadenopathy, and hepatosplenomegaly). Leukocyte count was 140,000/cu mm, with 95% blast forms; platelet count, 23,000/cu mm; and hematocrit reading, 18%. Bone marrow aspirate had 95% lymphoblasts that were periodic acid-schiff negative. Initial treatment consisted of vincristine and prednisone, followed by craniospinal irradiation and intrathecal methotrexate. Maintenance therapy with 6-mercaptopurine, cyclophosphamide, and methotrexate was continued for three years. In April 1975 all medications were stopped, and she has remained free of recurrence.