Clinical and experimental study of 38 cases with trisomy 8

Objective To study the role of trisomy 8 in pathogenesis and progression of hematologic disease with trisomy 8.Methods The clinical data on 38 cases with trisomy 8 were investigated retrospectively. Fluoresence in situ hybridization(FISH) using Spectrum Orange labeled chromosome 8 centromere specific probe was carried out to detect trisomy 8 in 10 cases.Results Thirty-two of 38(84.2%) cases with trisomy 8, and fourteen of 17(82.4%) cases with trisomy 8 as the sole chromosome aberration were myeloid disorders such as myelodysplastic syndrome(MDS), acute myelocytic leukemia(AML), chronic myelocytic leukemia(CML). The incidence of trisomy 8 was higher in myeloid disease than in lymphocytic disease(5% vs 1.3%); the incidence of trisomy 8 was higher in acute monocytic leukemia than in other AML(6.1% vs 2.4%), and the incidence of trisomy 8 in chronic myelomonocytic leukemia(CMML) was higher than that in other myelodysplastic syndrome (MDS) (25% vs 13.2%); 17 cases had trisomy 8 as the sole chromosome aberration, 21 cases had other additional chromosome aberrations. The chromosome aberration was confirmed by FISH in 10 cases with trisomy 8 as the sole chromosome aberration. Eleven cases were treated with chemotherapy, among them only 10 cases data were available. Seven cases acquired complete remission but 3 of them were M3, the other 3 cases had no response after two courses of chemotherapy.Conclusion Trisomy 8 may play an important role in the pathogenesis and progression of the hematologicl disease, especially myeloid disease. Trisomy 8 might be related with differentiation abnormality of monocyte.