| Three chapters will be concluded in this thesis.Chapter One:Chromosomal abrerrations detected in chronic lymphocytic leukemia by FISH and conventional cytogenetics;Chapter Two:Expression of Galectin-3 in patients with chronic lymphocytic leukemia Leukemia and its Clinical Significance.Chapter Three:Clinical and cytogenetic study of 3 cases of hematological disorders associated with t(18;22)(q21;q11)abnormalitiesChapter One:Chromosomal abrerrations detected in chronic lymphocytic leukemia by FISH and conventional cytogeneticsObjective:Objective To evaluate the usefulness for convention cytogenetics(CA)of DSP30 and IL-2 for detecting the chromosomal aberrations in chronic lymphocytic leukemia(CLL);To investigate of the clinical and molecular genetic characteristics on chronic lymphocytic leukemia(CLL).Methods Bone marrow or peripheral blood cells of CLL patients were cultured with DSP30 plus IL-2 for 72 h,following which R-banding analysis was conducted.Fluorescence in situ hybridisation(FISH)was performed on 85 patients.CA results were compared with data obtained by FISH.Fluorescence in situ hybridisation(FISH)using five specific probes including D13S25 for 13q-,RB1 for 13q-,P53 for 17p-,ATM for 11q-and CEN12 for+12 was performed on 563 CLL patients.Results Among 89 CLL patients,the success rate of chromosome analysis was 94.38%(84/89).Clonal aberrations were detected in 51 patients(51/84,60.71%).Of them,27(27/51,52.94%)were complex karyotype.85 CLL patients were tested by FISH.Chromosomal abnormalities were detected in 74(74/85,87.06%)patients,of which 2(2/74,2.70%)patients were complex karyotypes,accounting for.Of the 85 CLL patients examined by FISH,50 had abnormal karyotype analysis,30 had normal karyotype,5 failed to have chromosome analysis.78(91.76%)cases with abnormality detected by the combination of the two meathods.but significantly higher for 13q-deletion(p<0.001).In addition,14 cases of low-risk and 6 cases of intermediate-risk patients according to FISH results showed complex karyotype by cytogenetics,resulting in the transition into the high risk cytogenetic subgroup.Results among these 563 samples,Chromosomal abnormalities were detected in 68.38%(385/563)patients.234 cases(41.56%)of 13q-;56 cases(9.95%)of+12 abnormalities,12 cases(2.3%)of 11q-,19 cases(3.37%)of 17p-,63 cases(11.19%)displayed 2 or more kinds of abnormalities.There was no statistically significant difference in the time to first treatment(TTFT)between 11q-and 17p-groups(P>0.05),and the prognosis of two groups was the worst.TTFT was no significant difference between the two groups of+12 and 2 or more kinds of abnormalities,prognosis of two groups was moderate.The median TTFT of the 13q-and FISH normal groups were untouchable.There was no statistical difference between the two TTFTs(P>0.05),and the prognosis of two groups was good.Conclusion DSP30+IL-2 is effective in improving the detection rate of CA in CLL patients(60.71%)and it is more effective to detect complex karyotype than FISH.However,FISH had a higher overall abnormality detection rate(87.06%)than CA,especially for 13q-.The combination of CA and FISH not only enhanced the detection rate of clonal aberrations to 91.76%,but also allowing for a more precise refinement of the prognostic risk for CLL patients,thus providing more information for clinical implication.FISH can provide more accurate molecular genetics information for CLL research.13q-,17p-,+12,and 11q-were important factors affecting the prognosis of CLL.Chapter Two:Expression of galectin-3 in patients with chronic lymphocytic leukemia Leukemia and its clinical significanceObjective:To explore the expression and clinical significance of galectin-3 in chronic lymphocytic leukemia(CLL).Methods:A total of 30 specimens of CLL were collected.The expression of galectin-3 was detected by PCR.Results:The expression of Gal-3 in 30 CLL patients was significantly higher than normal people(p<0.05).The expression of Gal-3 in different groups:the expression of Gal-3 in CLL patients with 17q-group was significantly higher than that in CLL patients without 17p-group,and there was no significant difference in the expression of Gal-3 in other groups(all p>0.05)Conclusion:The expression of Gal-3 in CLL patients is significantly higher than that in normal people.High expression of Gal-3 may be a poor prognostic factor for CLL.Chapter Three:Clinical and cytogenetic study of 3 cases of hematological disorders associated with t(18;22)(q21;q11)abnormalitiesObjective:To report 3 cases of Chronic Lymphocytic Leukemia with t(18;22)(q21;qll)Methods:FISH analysis was performed by BCL-2?Bcr/abl probe,and the whole genome of pedestrians was sequenced.PCR amplification was carried out at the DNA level.After electrophoresis,the gel was cut and sent to the detection sequence.Results:FISH confirmed positive BCL-2 rearrangement and negative BCR rearrangement in second case;BCL-2 rearrangement is 73%,BCR rearrangement is 70%in third case.All three cases were sequenced with the whole human genome The BCL-2 gene was involved in all patients,but the gene at 22q11 site was different from that at which translocation occurred.Examples 1 and 2 are IGLL5,and example 3 is MIR650,Examples 1 and 3 were amplified by PCR at the DNA level.After electrophoresis,the gel was cut and sent to the detection sequence to verify the correct cleavage site.Conclusion t(18;22)(q21;q11)is a rare non-random chromosomal translocation in chronic lymphocytic leukemia.The juxtaposition of IGLL5 or mircoRNA and BCL-2 gene resulting in high expression of Bcl-2.i... |
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