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【Objective】 To analyze the blood transfusion and adverse reactions in myelodysplastic syndroms (MDS) patients, so as to improve transfusion management in MDS patients. 【Methods】 The diagnosis and treatment information of MDS patients with blood transfusion in our hospital from January 2003 to December 2022 were collected, and the component transfusion and adverse reactions were investigated. 【Results】 The average infusion volume of red blood cells(RBCs) and platelets were respectively (27.46±43.11 ) and (16.41±24.81 ) in 799 MDS patients, which had no correlation with gender and blood type. The incidence of adverse reactions was 18.27% (146/799), with the most common adverse reactions as delayed serologic transfusion reaction (DSTR) (9.01%, 72/799), followed by non hemolytic fever reaction (4.76%, 38/799) and allergic reaction (4.38%, 35/799). Compared with all patients with transfusion, DSTR was more common in females (P<0.05), with elder age and had more RBCs consumption (all P<0.01). 86.11%(62/72) were Rh system, and 40.28% (29/72) had 2 or more antibodies. The occurrence time of DSTR in some patients was not related to the volume of RBCs trans infusion. 【Conclusion】 MDS patients, with more average transfusion volume and higher incidence of adverse reactions especially DSTR, were recommended a strictly limited transfusion schedule and Rh phenotype matching RBC products. The investigation of immune status of MDS patients at different periods is helpful to provide new aspects and therapeutic measures for the pathogenesis of DSTR, and the antibody screening time may adjusted appropriately.
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Objective:To summarize and analyze the clinical data of Chinese patients with colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy, and clarify the phenotypic and genetic characteristics of Chinese patients.Methods:Medical history of patients with CSF1R-related leukoencephalopathy diagnosed from April 1, 2018 to January 31, 2021 in the department of neurology of 22 hospitals in China was collected, and scores of Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment Scale (MoCA), magnetic resonance severity scale were evaluated. Group comparison was performed between male and female patients.Results:A total of 62 patients were included, and the male-female ratio was 1∶1.95. The age of onset was (40.35±8.42) years. Cognitive impairment (82.3%, 51/62) and motor symptoms (77.4%,48/62) were the most common symptoms. The MMSE and MoCA scores were 18.79±7.16 and 13.96±7.23, respectively, and the scores of two scales in male patients (22.06±5.31 and 18.08±5.60) were significantly higher than those in females (15.53±7.41 , t=2.954, P=0.006; 10.15±6.26, t=3.328 , P=0.003). The most common radiographic feature was bilateral asymmetric white matter changes (100.0%), and the magnetic resonance imaging severity scale score was 27.42±11.40, while the white matter lesion score of females (22.94±8.39) was significantly higher than that of males (17.62±8.74 , t=-2.221, P<0.05). A total of 36 CSF1R gene mutations were found in this study, among which c.2381T>C/p.I794T was the hotspot mutation that carried by 17.9% (10/56) of the probands. Conclusions:The core phenotypic characteristics of CSF1R-related leukoencephalopathy in China are progressive motor and cognitive impairment, with bilateral asymmetrical white matter changes. In addition, there exist gender differences clinically, with severer cognitive impairment and imaging changes in female patients. Thirty-six CSF1R gene mutations were found in this study, and c.2381T>C/p. I794T was the hotspot mutation.
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Objective@#To identify clinical and molecular signatures for predicting response to decitabine (DAC) in patients with myelodysplastic syndrome (MDS) and related neoplasms.@*Methods@#The clinical characteristics of 109 patients with MDS and related neoplasms who were treated with DAC were analyzed retrospectively and the next target sequencing was performed to define recurrently mutated genes in these disease samples, to examine the association of the clinical and molecular signatures with response to DAC treatment.@*Results@#Of 109 MDS and related neoplasms patients, there were 70 males and 39 females, the median age was 61 years old (ranges: 17-85 years old) . According to the international prognostic scoring system (IPSS) , 46 cases were included in the relatively low risk group (low risk and intermediate-1 risk) , 63 in the relative high risk group (intermediate-2 and high risk) . There were 21 cases with complex karyotype, 17 chromosome 7 abnormality and 17 monosomal karyotype. The median courses of DAC treatment was 4 (2-11) . A total of 74 patients achieved response (67.9%) and 30 (27.5%) achieved complete response (CR) . Univariate analysis found that CR was higher in patients with high risk of IPSS, complex karyotypes, monosomal karyotypes, chromosome 7 abnormality, and platelet doubling after one cycle of DAC treatment. Patients with TP53 gene mutation were more likely to receive CR, 10 of 15 patients with TP53 mutations achieved CR. (66.7%) , which was significantly higher than that of the patients without TP53 gene mutation (21.3%) (P=0.001) . Multivariate analysis showed that TP53 gene mutation, platelet doubling after one cycle of DAC treatment and the complex karyotype were independent prognostic factors for CR. Of them, TP53 gene mutation is the strongest predictor (OR=4.39, 95%CI, 1.20-16.06, P=0.026) .@*Conclusion@#TP53 mutation, platelet doubling after one cycle of DAC treatment and complex karyotypes could predict CR to DAC.