Tetrasomy 8 detected by interphase cytogenetics in a child with acute lymphocytic leukemia

Tetrasomy 8 is a rare clonal anomaly in human acute leukemia. Here we present a case of a 7-year-old boy with acute lymphoblastic leukemia (ALL) displaying a tetrasomy 8 clone that could not be detected by conventional cytogenetics. In this study, bone marrow and peripheral blood cells were collected at five different diagnostic stages and analyzed by double targeted fluorescence in situ hybridization (FISH) with centromeric DNA probes for chromosomes 7, 8, 9, and 12. FISH analysis revealed a significant increase in tetrasomy 8 frequency, but not in other chromosomes examined. A smaller increase in trisomy 8 was also detected. At one stage over 60% of the cells were hyperdiploid with 40% being tetrasomic. The size of the tetrasomic clone changed during the course of the disease. The hyperdiploid frequencies of chromosome 8 detected by interphase FISH analysis in bone marrow and peripheral blood were similar. Our findings indicate the utility of FISH analysis in cytogenetic monitoring of leukemia patients and further show that tetrasomy 8 may play a specific role in a subtype of ALL.