| Clonality assay for myeloproliferative neoplasms and myelodysplastic syndrome using X chromosome inactivationpatternObjectiveTo explore the frequencies of heterozygosity in G6PD, P55, BTK, and FHL-1 polymorphic loci in Chinese women and to investigate the clinical value of X chromosome based clonality assay for testing the clonality of patients with clinical suspected MPN or MDS.MethodsGenomic DNA was extracted from peripheral blood of 446 Chinese healthy women. Allele-specific PCR (ASPCR) was applied for detecting G6PD and P55 exonic polymorphisms. The BTK and FHL-1 genotyping were performed by PCR-restriction enzyme digestion method. For detection of clonality, the transcriptional clonality assays were done upon the bone marrow mononuclear cells (BMMCs) of 24 patients who were suspected to be MPN or MDS.ResultsAmong the 446 Chinese female genomic DNA samples analyzed, the frequencies of heterozygosity in G6PD, P55, BTK, and FHL-1 loci were 12.8%,29.4%,52.0% and 46.4% respectively. When all loci were considered,81.4% were heterozygous at either locus. Among 16 ET patients, the BMMCs were monoclonal or oligoclonal in 11 cases, polyclonal in 5 cases.5 cases were monoclonal or oligoclonal out of 8 patients with cytopenia, in whom 4 patients has been diagnosed MDS.ConclusionAbout 80% of Chinese females were informative for X-chromosome inactivation based TCA which were useful for the differential diagnosis of MPN or MDS. A preliminary study on the value of periodic acid-Schiff stain in erythroblasts in myelodysplastic syndromeObjectiveTo investigate the value of periodic acid-Schiff (PAS) stain in erythroblasts in judgement of dyserythropoiesis, diagnosis and differential diagnosis of myelodysplastic syndrome (MDS).MethodsThe PAS stain in bone marrow (BM) erythroblasts in 406 MDS pateints,207 non-severe aplastic anemia (NSAA),144 immune thrombocytopenic purpura (ITP), 67 megaloblastic anemia (MegA),76 iron deficiency anemia (IDA),50 paroxysmal nocturnal hemoglobinuria (PNH),50 acute erythroid leukemia (AEL) and other related laboratory tests data in MDS patients were analyzed retrospectively.ResultsThe PAS-positive detection rate in MDS (53.0%) was significantly higher than in NSAA (14.5%), ITP (27.1%) and PNH (16.0%), but significantly lower than in AEL (84.0%) (All the P=0.000). There was no significant difference in the PAS-positive detection between MDS and MegA (46.3%),or MDS and IDA (40.8%) (P=0.310; P=0.052). The PAS-positive rate (Median, M=1%) and PAS-positive scores (M'=2) in erythroblasts in MDS was significantly lower than in AEL (M=8%; M'=17), and significantly higher than in NSAA (M=0%; M'=0), ITP (M=0%; M'=0), PNH (M=0%; M'=0), MegA (M=0%; M'=0), and IDA (M=0%; M'=0) (All the P< 0.05).The cut-off value of PAS-positive rate and score for the diagnosis of MDS from the other groups except AEL were 0.5% and 0.5, whose sensitivity and specificity were 60.8% and 74.4% respectively. MDS patients were divided into PAS-positive and PAS-negative groups according to PAS reaction, the percentage of erythroid cell in BM was significantly higher in PAS-positive group than in PAS-negative group (P <0.05), and so were megakaryocyte count, the lymphocyte-like micromegkaryocyte count and the percentage of micromegkaryocyte (P=0.002; P=0.000; P=0.000 respectively). Hemoglobin (HB) , mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC) were significantly lower in PAS-positive group (P<0.05), and so was the neutrophil alkaling phosphatase (NALP) (P=0.000).The PAS-positive detection rate, positive rate and score were higher in MDS patients with abnormal karyotype than with normal karyotype and were also higher in IPSS high-risk+intermediate-risk2 group than in low-risk+intermidiate-riskl group.ConclusionsThe positive reaction of PAS stain in erythroblasts is a indicator of dyserythropoiesis.lt is helpful for the diagnosis of MDS patients. |
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