Pancytopenia secondary to primary malignant lymphoma of bone marrow as the first hematologic manifestation of the Estren-Dameshek variant of Fanconi's anemia.

We describe a 4-month-old girl with Estren-Dameshek variant of Fanconi's anemia (FA) presenting with a pancytopenia secondary to extranodal bone marrow malignant lymphoma as the first hematologic manifestation of the syndrome. Although she was phenotypically normal, her cultured lymphocytes showed an increased spontaneous chromosome breakage, which was enhanced by diepoxybutane (DEB). Cytogenetic studies showed that 7 of her 12 relatives, including both parents, were heterozygote carriers of the FA gene. This confirms the diagnosis of FA of the Estren-Dameshek variant. A complete hematologic remission was attained within 28 days, and she remained in continuous bone marrow remission till the age of 14.5 months, when she developed acute gastroenteritis and died. No unusual sensitivity to chemotherapy was experienced, though leukopenia and recurrent infections proved troublesome. FA has an incidence many times higher in the Orange Free State region of South Africa than reported elsewhere in the world.