Cytogenetic analysis of 154 case of acute myeloid leukemia with t(8;21) / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To investigate the cytogenetic features of acute myeloid leukemia (AML) with t(8;21).</p><p><b>METHODS</b>The clinical characteristics of 154 cases of acute myeloid leukemia with t(8;21) in our hospital were analyzed retrospectively. According to the chromosome karyotype, all cases were divided into three groups: the group without additional chromosome abnormality, the group with single sex chromosome loss and the group with additional chromosome abnormalities other than sex chromosome loss.</p><p><b>RESULT</b>In this study, according to FAB classification, there were 127 cases of M2 (82.5%), 15 of M5 (9.7%), 6 of M4 (3.9%), 4 of M1(2.6%) and 2 of M0(1.3%). Cytogenetically, 85 (55.2%) AML patients with t(8;21) had additional chromosome abnormalities. The most common abnormalities were sex chromosome loss, of which -Y was detected in 44.1% of the male karyotype and X in 27.9%. Beside that, there were 9 cases of 9q- (5.8%), 5 of +8(3.3%),3 of +4(2.0%) and 17 of other chromosome anomalies (11.4%). In the group of t(8;21) with additional chromosome abnormalities, 11 cases (35.5%) were non-M2 AML, higher than that in single t(8;21) group (17.4%)(P<0.05); however, there was no significant difference between the group of single t(8;21) and the group of t(8;21) with single sex chromosome loss(P>0.05).</p><p><b>CONCLUSION</b>t(8;21) translocation is usually accompanied by additional chromosome abnormalities, particularly in M2; while t(8;21) with additional chromosome abnormalities other than sex chromosome loss is more frequently observed in non-M2 AML.</p>

Cytogenetic analysis on 135 cases of chronic myelogenous leukemias with non-simple Philadelphia chromosome / 中国实验血液学杂志

The purpose of this study was to investigate 135 cases of chronic myelogenous leukemia with non-simple Philadelphia chromosome and to analyze their cytogenetic date. Chromosome preparations in 135 cases of patients were performed by using direct method and/or short-term culture, and karyotyping was performed with R-banding technique. The results showed that the overall frequency of chronic myelogenous leukemia with non-simple Philadelphia chromosome (based on 1210 cases of chromosome detection in chronic myelogenous leukemia) was 11.16%, which included 87 cases of chronic phase, 21 cases of accelerated phase and 27 cases of blastic phase. Among 87 cases of patients in chronic phase, 14 cases were with simple variant translocation and 22 cases had complex variant translocation while the others were with other chromosomal abnormalities including 4 cases of +8, 4 cases of + Ph and 2 cases of i (17); among 21 cases of patients in accelerated phage, 4 cases were with +8 and 4 cases were with + Ph while 3 cases were with i (17); among 27 cases of patients in blastic phage, 2 cases were with simple variant translocation and 3 cases had complex variant translocation while the others were with other chromosomal abnormalities including 5 cases of +8, 5 cases of + Ph and 2 cases of i (17). The detection rate of extra chromosomal abnormalities in this group of 135 cases patient were + Ph, +8, i (17), -Y, +19 and +21 in order. There were 16 cases with simple variant translocation and 25 cases with complex variant translocation in in this group of 135 cases. It is concluded that karyotype analysis is helpful in diagnosis, prognosis, pathogenesis and treatment selection for chronic myelogenous leukemia.

Clinical and experimental study of 38 cases with trisomy 8 / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the role of trisomy 8 in pathogenesis and progression of hematologic disease with trisomy 8.</p><p><b>METHODS</b>The clinical data on 38 cases with trisomy 8 were investigated retrospectively. Fluorescence in situ hybridization (FISH) using Spectrum Orange labeled chromosome 8 centromere specific probe was carried out to detect trisomy 8 in 10 cases.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>Trisomy 8 may play an important role in the pathogenesis and progression of the hematological disease, especially myeloid disease. Trisomy 8 might be related with differentiation abnormality of monocyte.</p>