Adult T-cell leukemia/lymphoma is a monoclonal T-cell
neoplasm associated with human T-cell lymphotropic virus-1 (HTLV-1) that occurs almost exclusively in adults. This report concerns a Romanian girl who had recurrent skin eruptions since infancy, subcutaneous
tumors in childhood, and peripheral blood
lymphocytosis, which initially developed at the age of 12 years. The circulating lymphocytes were of helper T-cell immunophenotype. Serologic studies demonstrated a number of HTLV-1
antigens in the child and her mother, and molecular analyses revealed monoclonal
T-cell-receptor gamma gene rearrangement and detectable HTLV-1 proviral
DNA. Conventional cytogenetic studies revealed a t(3;6)(q23;q27) chromosome translocation in most of the neoplastic cells. The patient initially responded well to
interferon alfa therapy and showed regression of skin lesions and diminished
lymphocytosis, but 4 years later, she developed massive
lymphadenopathy and
leukemic infiltration of the breast. At last clinical follow-up, at the age of 17 years, the patient had stable low-level peripheral
lymphocytosis and subcutaneous
tumors while being continuously treated with
interferon alfa. Our review of the literature revealed six additional children with HTLV-1-associated
T-cell leukemia/
lymphoma, including one case with a similar clinical presentation and ethnic background. To our knowledge, the t(3;6)(q23;q27) translocation identified in this patient's
neoplasm has not been previously reported in
adult T-cell leukemia/lymphoma cases and may explain the early onset of disease. Although
adult T-cell leukemia/lymphoma is rare in Romania, the identification of healthy carriers and vertical transmission raise the possibility that Romania might be an endemic region for HTLV-1
infection.