A 17-year-old boy was admitted with fever, generalized lymphadenopathy, hepatosplenomegaly, multiple cāfe-au-lait spots, and a family history of neurofibromatosis. The peripheral blood showed anemia, leukocytosis with 9% blasts, 54% eosinophils of abnormal morphology, and thrombocytopenia. No cause for hypereosinophilia was found. Bone marrow aspiration revealed hypercellularity with 20% myeloblasts and 35% eosinophilic leukocytes. The cytogenetic analysis of bone marrow cells with G-banding techniques showed a karyotype of 45, XY, −7. Based upon these findings, the authors believed that the patient had eosinophilic leukemia and neurofibromatosis. The patient rapidly declined and died from disseminated cryptococcosis.
This case provided additional evidence of a link between aneuploidy of the group C chromosome and hematologic malignancy.