The Prame Gene Fish Myelodysplastic Syndrome With Myelodysplastic Syndrome Expression

Backgroud:Clonal chromosome aberration is very important for the diagnosis of myelodysplastic syndrome (MDS). Unlike conventional cytogenetic banding analysis (CC), fluorescence in situ hybridization (FISH) can detect interphase cells by using the site-specific gene probe directly, and does not need cell culture, furthermore it can detect abnormal clone of about10-20%of normal karyotype MDS. FISH technology can improve the patients with myelodysplastic syndrome chromosome aberrations detection rate and help the diagnosis or treatment of MDS.Objective:We detected MDS patients'chromosome aberrations by CC and FISH method respectively, to establish standard FISH platform of diagnosis of MDS, to compare the differences of FISH and CC in the detection of MDS chromosome aberrations.Methods:To detect Chinese MDS patients fulfilled with the Vienna minimum diagnostic criteria by CC and FISH method, and collect the patients' clinical data.Results:1. Successful establishment of standard FISH platform of diagnosis of MDS, including probe combination of-5/5q-,+8,-7/7q-,20q-,-Y, the success rate of100%.2. Beijing Union Medical College Hospital confirmed83cases of MDS, chromosome aberrations percentage detected by two methods in42.2%,30.1%of the CC method and33.7%of FISH method, the accordant diagnostic rate was76.1%.3. Compared with CC method, FISH had higher positve rate in FAB-RA group,(30.7%VS24.6%, P=0.000), but similar rate in other sub-groups of FAB and WHO sub-groups.4. FISH had higher positive rate than the CC method (29.6%VS18.6%, P=0.049) in the IPSS intermedian-riskl group, but lower positive rate in IPSS intermedian-risk2group(62.5%VS81.2%, P=0.036).5. There were11(19%) cases of clonal chromosome aberrations detected by FISH method but not detected by CC method, in which9cases of RA(FAB classification) and10(90.9%) cases of intermedian-riskl group(IPSS grouping). 6. Evaluate IPSS by FISH and CC respectively, the accordant rate was86.7%. Evaluate IPSS by CC alone will result in3patients (3.6%) decline in risk stratification, and evaluate IPSS by FISH alone will result in8patients (9.6%) decline in risk stratification.7. There were35(42.2%) cases of chromosome aberrations detected by the two methods, including13(15.7%) cases of complex karyotype and22(26.5%) cases of single abnormal karyotype. The most common chromosomal aberrations were+8, a total of nine(10.8%) cases, followed by abnormalities of chromosome7, a total of seven (8.4%) cases.Conclusion:We have established standard FISH platform of diagnosis of MDS, the method is stable, sensitive and rapid. FISH technology joint CC technology, which can improve the patients with myelodysplastic syndrome chromosome aberration detection rate. Compared to CC, FISH technique can improve the detection rate of FAB-RA group and the intermedian-riskl IPSS grouping MDS patients. Because of limited probe, FISH technique can not entirely replace the role of the CC method in myelodysplastic syndrome, but can complement each other. Backgroud:PRAME(Preferentially Expressed Antigen of Melanoma) is a tumor-associated antigen widely and highly expressed in solid tumors as well as acute and chronic leukemia, which can be used as the monitoring of minimal residual disease and used as a important clinical prognostic factor. There is no research at home and abroad in the expression of the MDS.Objective:This study examined PRAME gene expression in the MDS and discusses significance of PRAME gene expression in the MDS diagnosis and prognosis.Methods:To detect66MDS patients fulfilled with the Vienna minimum diagnostic criteria by real-time quantitative PCR method,13cases of non-hematopoietic malignancy patients as negative control and K562cell as positive control.Results:1. The patient's relative PRAME expression MDS was significantly higher than non-hemotological tumores, with median value1.6×10-4VS5.3X10-6, p<0.001. Thirteen cases (20%) of patients with MDS PRAME gene expression is positive, including8of47cases (17%) RA patients, one of7(14%) RAS patient,4of12cases(33%) RAEB patients.2. There was no significant difference of PRAME expression and positive rate in the MDS subgroup of FAB classif ication, WHO classification, and IPSS group.3. PRAME expression were positively correlated with myeloblast percentage of bone marrow, r=0.244, P=0.034.4.The patients with appearance of micromegakaryocytes had higher PRAME-positive rate, P=0.030.5. The PRAME gene expression changes of two patients were consistent with clinical conditions.Conclusion:1. The MDS patient's PRAME expression is significantly higher than non-hematopoietic malignancy patient.2. There was no significant difference of PRAME expression and positive rate in the MDS subgroup of FAB classification, WHO classification, and IPSS group.3. PRAME expression level is closely related to changes in the clinical condition of some patients with MDS and may be an effective indicator of monitoring myelodysplastic syndrome MRD.