Nygaardschneider4676

Gene sequencing was performed on proband and 8 relatives of the proband, and 5 were found to have the germline CEBPA TAD p.G36Afs*124 mutation. Among the 5 individuals with confirmed CEBPA mutation, 4 were diagnosed with AML, and 1 had not developed disease during follow-up. Conclusion AML with germline CEBPA gene mutation mostly occurs in children and young adults, with complete or nearly complete penetrance. With active treatment, most of the patients have a favorable prognosis.Objective To compare fibrosis-driving cells in patients with primary myelofibrosis (PMF) and patients with myelodysplastic syndromes (MDS) with myelofibrosis (MF) (MDS-MF) . Methods Bone marrow biopsy sections of patients with newly diagnosed PMF and MDS (10 each randomly selected for MF-0/1, MF-2, and MF-3) were stained with specific immunofluorescence antibodies to label Gli1, LeptinR, alpha smooth muscle actin (α-SMA) , CD45, and ProcollagenⅠ. Images captured by confocal microscopy were analyzed by Fiji-ImageJ to calculate the cell counts of Gli1(+), LeptinR(+) cells, and fibrosis-driving cells including α-SMA(+), α-SMA(+)/Gli1(+), α-SMA(+)/LeptinR(+), and ProcollagenⅠ(+)/CD45(+) cells. Results Patients with PMF and MDS with MF-2/3 had higher LeptinR(+), α-SMA(+), α-SMA(+)/Gli1(+), and Procollagen Ⅰ(+)/CD45(+) cell counts compared with those with MF-0/1 (all P values0.05) . MF grade and fibrosis-driving cell counts were not correlated with overall survival in patients with either PMF or MDS. Conclusion α-SMA(+) cells in patients with PMF originated from both Gli1(+) and LeptinR(+) cells, whereas α-SMA(+) cells in patients with MDS-MF only originated from Gli1(+) cells; patients with PMF had higher ProcollagenⅠ(+)/CD45(+) cell counts than those with MDS-MF.Objective To evaluate the epidemiology of bacterial bloodstream infections in patients submitted to hematologic wards in southern China. Methods A total of 50 teaching hospitals were involved based on the China Antimicrobial Resistance Surveillance System. The data of clinical isolates from blood samples were collected from January 1, 2019, to December 31, 2019. Antimicrobial susceptibility testing was conducted by the Kirby-Bauer automated systems, and the results were interpreted using the CLSI criteria. Results The data of 1,618 strains isolated from hematologic wards in 2019 were analyzed, of which gram-negative bacilli and gram-positive cocci accounted for 71.8% and 28.2%, respectively. Of those, the five major species were most often isolated, including Escherichia coli, Klebsiella pneumoniae, Pseudomonas aeruginosa, coagulase-negative staphylococcus, and Streptococcus viridans. The prevalence rates of methicillin-resistant strains in Staphylococcus aureus and coagulase-negative staphylococcus were 19.7department were the lowest with 8.3% and 25.8%, respectively. The detection rate of all carbapenem-resistant organisms in the ICU was the highest among the three departments. Conclusion The etiology and drug resistance of bacteria from blood samples in the hematology department are different from those in the ICU and respiratory departments. The proportions of K. pneumoniae, P. aeruginosa, E. cloacae, and S. viridans dominating in the department of Hematology were significantly higher than those in the ICU and respiratory departments in Guangdong region.Objective To explore the genetic characteristics, clinical features, and prognostic values of RAS mutations in patients with myelofibrosis (MF) . Methods We analyzed 112-gene targeted sequencing data from 226 patients who had a diagnosis of either primary myelofibrosis (PMF) or post-polycythemia vera/post-essential thrombocythemia (post-PV MF and post-ET MF) from December 2011 to December 2019. A retrospective analysis of the genetic characteristics, clinical features, and prognosis of RAS mutations was performed. Results Among 266 patients diagnosed PMF or post-PV/ET MF, RAS mutations were found in 14 (6.2%) cases, including 9 (4.0%) cases of NRAS mutations, 8 (3.5%) cases of KRAS mutations, and 3 (1.3%) cases of both NRAS and KRAS mutations. All of the NRAS mutations were located in codons 12 and 13. The median VAFs of RAS mutations were significantly lower than those of the driver mutations, confirming that they represent sub-clonal events that are acquired during the disease course. SETBP1, SRSF2, and MPL tended to be clustered with RAS mutations. Patients with RAS mutations had a higher number of additional oncogenic mutations (median, 3.36 vs 1.17, P less then 0.001) . RAS mutations had a statistically significant association with elevated monocyte cell counts (P=0.003) , lower platelet counts (P=0.026) , higher bone marrow blasts (P=0.022) , splenomegaly (P=0.005) , and very high-risk (VHR) karyotype abnormality percentage (P=0.031) . In univariate analysis, the OS of patients with NRAS mutations were significantly inferior in the entire MF and PMF cohorts (P=0.001, P=0.008) . In a multivariate model, NRAS retained an independent negative prognostic factor in PMF. Conclusion RAS gene mutations were constantly related to elevated monocyte cell counts, lower platelet counts, higher bone marrow blasts, and VHR karyotype abnormality percentage that usually defined high-risk disease and often occurred as sub-clonal events. LW 6 HIF inhibitor NRAS mutation is an independent poor prognostic factor in PMF.Objective To analyze the epidemiological features of patients with plasma cell leukemia (PCL) and calculate the prevalence of PCL in urban China in 2016. Methods Calculation in this study was based on China's urban basic medical insurance from 23 provinces between January 1, 2016 and December 31, 2016. The identification of the patients with PCL was based on the disease names and codes in the claim data. Subgroup analyses were carried out by sex, region, and age. To test the robustness of the results, we performed sensitivity analyses. Age-adjusted prevalence was calculated, based on the 2010 Chinese census data. Results The prevalence of PCL in urban China in 2016 was 0.11 per 100 000 population (95% CI 0.05-0.19) , and the male prevalence and female prevalence were 0.12 per 100 000 population (95% CI 0.06-0.21) and 0.10 per 100 000 population (95% CI 0.04-0.19) , respectively. The prevalence of PCL peaked at 70-79 years old. Sensitivity analyses proved the robustness of the primary result. The age-adjusted prevalence based on 2010 Chinese census data was 0.