Correlation between U2AF1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodysplastic Syndrome / 中国实验血液学杂志

OBJECTIVE@#To investigate the correlation between U2AF1 gene mutation and clinical manifestations and prognosis in patients with myelodysplastic syndromes (MDS).@*METHODS@#The clinical data of 203 MDS patients who accepted Next Generation Sequencing (NGS) was retrospectively analyzed in Nanfang Hospital, Southern Medical University from December 2012 to October 2019. According to whether the patients had U2AF1 gene mutation, the patients were divided into U2AF1 mutated group and non-mutated group, and the relationship between gene mutation characteristics and clinical manifestations and prognosis was analyzed. Then according to the difference of the mutation site of U2AF1, the patients in U2AF1 mutated group were divided into U2AF1@*RESULTS@#The incidence of U2AF1 mutation in MDS patients was approximately 11.3% (23/203), and the mutation frequency of U2AF1 allele was 32.5%. The male ratio in U2AF1 mutated group was significantly higher than that in U2AF1 non-mutated group (P=0.001). There was no patient who had complex karyotypes or TP53 gene mutation in U2AF1 mutated group. There were no significant differences in ages, blood parameters, bone marrow blasts, WHO 2016 classification, IPSS-R category, chromosomal abnormalities like del(5q), -7/del(7q), del(20q), +8, and gene mutation like ASXL1, DNMT3A, RUNX1, SF3B1, and SRSF2 mutation between U2AF1 mutated group and the non-mutated group. Compared with the non-mutated group, there was no significant difference in the overall survival time (P=0.377), the time of acute myeloid leukemia (AML) transformation (P=0.681), and the response rate to hypome- thylating agents in U2AF1 mutated group (P=0.556). Besides, no differences were observed in sex, diagnosis age, WHO 2016 classification, IPSS-R category, blood parameters, overall survival time, and AML transformation time between U2AF1@*CONCLUSION@#The U2AF1 gene mutation dose not affect the survival time, AML transformation time, and response rate to hypomethylating agents in MDS patients. Besides, there are no statistical differences in the clinical characteristics and prognosis of MDS patients between U2AF1

Clinical characteristics of hemophagocytic syndrome: analysis of 46 cases / 南方医科大学学报

<p><b>OBJECTIVE</b>To analyze the clinical manifestations, laboratory findings, treatment and prognosis of patients with hemophagocytic syndrome (HPS).</p><p><b>METHODS</b>A retrospective study was carried out to analyze the underlying disease, clinical characteristics, laboratory findings and outcomes of 46 patients with HPS.</p><p><b>RESULTS</b>This cohort included 19 cases of HPS secondary to cancer, 11 cases of HPS secondary to infection, 10 cases of suspected malignant lymphoma based on PET-CT findings (without biopsy), and 6 cases of unknown etiology. The coincidence rate of the clinical characteristics of the patients with the indices listed in HPS-2004 criteria were: fever (100%), elevated serum ferritin (100%), cytopenias (93.48%), splenomegaly (91.30%), hemophagocytosis in the bone marrow, spleen or lymph nodes (84.78%), hypofibrinogenemia (67.39%), and hypertriglyceridemia (54.05%). The cases of cancer, infections and unknown etiology showed significant differences in serum levels of ferritin and β2MG (P<0.05), and significant differences were found in triglycerides, LDH, and fibrinogenemia between the nonfatal and fatal cases (P<0.05).</p><p><b>CONCLUSION</b>HPS can be secondary to various underlying diseases, many associated with Epstein-Barr virus infection. Cancer, especially NK/T-cell lymphoma, is the main cause of HPS. Persistent fever, elevated serum ferritin level and cytopenias are the most sensitive indicators for diagnosis of HPS, and early diagnosis and treatment are critical to lower the mortality rate of this disease.</p>