Fluorescence In Situ Hybridization: Trisomy 12 Follow-up In Hairy Cell Leukemia

Peripheral white blood cells from five patients with hairy cell leukemia (HCL) were studied applying fluorescence in situ hybridization (FISH) using heparinized peripheral blood, biotin-labeled chromosome 12-specific α satellite DNA probe and biotin fluorescein-labeled avidin to detect hybridization. This methodology is ideal to investigate the incidence of numerical chromosomal abnormalities of both interphase and metaphase cells. Blood samples from 28 normal subjects were included as control samples. Trisomy 12 was considered to be present when ≥4% of cells had three hybridization spots. Trisomy 12 was detected in three of the five patients at different stages of their evolution. Trisomy 12 was also evident in two patients upon relapse of the HCL. When treatment with interferon alfa (IFN) and steroids was started, clinical and analytical remission were achieved and trisomy 12 disappeared. In one patient trisomy 12 persisted regardless of treatment with IFN and a good clinical evolution. Our results show that trisomy 12 was detected in HCL with FISH at a higher frequency than that previously reported by cytogenetic analysis in either peripheral blood or in cultivated cell lines. These results indicate that the presence of trisomy 12 may be a useful marker for the presence of HCL cells, to check the percentage of trisomic cells and that trisomy 12 is also a useful marker to indicate the activity of the disease.