Study On The Morphological, Cytogenetical And Immunophenotypic Features With Their Correlations In Myelodysplastic Syndrome Patients

1 The clinic and laboratory features of MDS patients by FAB and WHO classificationTo study the features of morphological,cytogenetic and prognosis of MDS patients in FAB and WHO classification and difference of clinic useful value between the classifications,the clinic(age,gender and prognosis) and laboratory(peripheral blood, bone marrow'chromosome and IPSS groups) features in 440 MDS patients of FAB subtypes and 264 patients reclassified by WHO subtype were summarized and analyzed. The difference of these features in each subtypes of two classifications were showed respectively.Although the correlations between subtype and prognosis in WHO-classification were no more tightly than that in FAB-classification,the former was more elaborate than the latter when compared the two classifications.WHO classification reduced the heterogeneity because each subtype of it closely correlated with the features of clinic and laboratory.Therefore,different classification can be chosed by different demand in clinical work and scientific research for our Chinese patients of MDS.The different features in MDS between China and other countries indicate that the influence factors of race,country and region have impact on the clinic and laboratory features in MDS patients.2 The morphological and cytogenetic features and theirs correlations in abnormal karyotype MDS-RA patientsDysplasia is not only the important characteritics,but also the necessary evidence in MDS.But to date,there was no "quantization" study reported about the degree,frequency and types of dysplasias in MDS-RA.Analysis on the correlation between morphology and cytogenetics was hardly found before.Therefore,to study the 'whole picture'of dysplasias of bone marrow cells in MDS,comprehend the dysplastic characteristics deeply,provide the substantial and copious theoretical evidence in morphology,48 RA patients with abnormal karyotype were analyzed for the features of morphological,cytogenetical abnormalities and the relationships between them.46 normal karyotype MDS-RA and 207 non-MDS anemia patients were enrolled as control groups.Morphological abnormalities more frequently happened in abnormal karyotype MDS-RA patients than that of the patients in other groups;more diverse types and higher proportions of dysplasia cells in bone marrow were found in RA patients with abnormal karyotypes;The frequency of some special dysplasia and number of some dysplastic cells may be influenced by the chromosome abnormalities.The study on the features of morphology and cytogenetics in abnormal karyotype MDS-RA patients are helpful for the diagnosis of MDS.3 The immunophenotypic features of bone marrow cells in MDSFlow cytometry was widely used on the detection and study of immunophenotypes in recent years.Immunophenotype of MDS was explored from different aspect and purpose, and most of studies were about the characteristics of the blast phenotype.But what are the immunophenotypic features of immature cells in the bone marrow? How about the significance on the application with conventional and simple immunological markers in MDS patients? And what value about it in the disgnosis of MDS? Using flow cytometer with direct immunofluorescence methods,immunophenotypes of 36 MDS patients(in FAB classification),18 AA patients and 11 healthy people were determined.Then R banding technique was used to perform chromosome karyotype analysis.Different immunophenotypic features was detected in each subtypes;expression of CD13,CD33 and CD34 was predominant in RAEB patients;expression of CD19,CD20 decreased and expression of CD13,CD33 increased in RAEB/RAEBT patients compared with those in healthy persons(P＜0.05).Statistically significant difference on the T,B lymphoid antigens and myeloid markers were found between MDS patients and AA patients.Thus, conventional flow cytometry detecting the immunophenotype of bone marrow cells are helpful in the differential diagnosis between MDS and AA,predict the progress from lower risk to higher risk subtypes.The expression of myeloid antigens was predominant and the expression of B lymphoid markers showed a decreased expression in MDS patients.4 Expression of genes DNTT and BLNK in patients with MDS MDS is a heterogenic disease that involves multiple genes,factors and steps.Its pathogenesis is not clear yet.Gene chip technique is a method that can be used to the high-throughout examination of thousands of genes in a short period.The previous study of this project in which the gene chip was used to detect the CD34+ cell of MDS patients revealed that a down-regulated tendency in the expression of gene DNTT and gene BLNK which were related to B-lymphocytes.Therefore,to investigate the possible pathogenesis and molecular characteristics of MDS,a real-time PCR experiment was performed next step in 41 MDS,35 non-MDS anemia,4 CAA,6 AML patients and 22 healthy controls. The experimental results showed that:①compared with the normal controls and non-MDS anemia patients,the MDS patients had a decreased expression of DNTT with a statistical significance(P＜0.05);②compared with that in RA patients,BLNK gene had a decreased expression in RAEB patients with statistical significance(P＜0.05);③the expression of BLNK gene in MDS had a positive correlation with the expression of DNTT gene.Therefore,the down-regulated expression of DNTT and BLNK gene might be one cause of the reduction of B lymphoid antigens in MDS;the detection of DNTT and BLNK gene may be helpful for the diagnosis of MDS.