SMARCA4-deficient non small cell lung cancer (SMARCA4-dNSCLC) has recently garnered increasing attention due to its high malignancy and poor prognosis. The literature suggests that in non small cell lung cancer (NSCLC), the loss of SMARCA4 frequently co-occurs with mutations in KRAS, KEAP1, and STK11 rather than in EGFR, ALK, and ROS1. Herein, we present the first documented case of SMARCA4-dNSCLC accompanied with rare mutations of EGFR exon 20 S768I and exon 18 G719X. The patient achieved partial response with afatinib for 17 months. Our case highlights the importance of EGFR mutations in the precision targeted treatment of SMARCA4-dNSCLC.
Humans ; Afatinib/therapeutic use* ; Antineoplastic Agents/therapeutic use* ; Carcinoma, Non-Small-Cell Lung/pathology* ; DNA Helicases/genetics* ; ErbB Receptors/genetics* ; Lung Neoplasms/pathology* ; Mutation ; Nuclear Proteins/genetics* ; Transcription Factors/genetics*

Objective:To evaluate the residual risk (RR) of transfusion transmitted HIV (TT-HIV) after the implementation of nucleic acid amplification test (NAT) in blood screening test among blood centers in China.Methods:The data of blood donors and HIV infection markers from 2017 to 2020 were collected from 28 blood centers via the Platform of Comparison of blood establishments Practice in Chinese Mainland. The new infection rate/window period mathematical model was used for two types of blood screening strategies, namely, two rounds ELISA plus individual NAT take turn with pooling NAT (2ELISA+ ID-NAT/MP-NAT) and two ELISA plus one round pooling NAT (2ELISA+ MP-NAT), and the RR of HIV infection was estimated also based on first donors (FDs) and repeated donors (RDs) in different blood donation years. T-test analyses were conducted for comparing TT HIV RR among FDs and RDs in different blood donation years with two blood screening strategies, and the variation trend of RR in HIV test was observed.Results:From 2017 to 2020, the RR of FDs in 2ELISA+ ID-NAT/MP-NAT blood screening strategy was 2.869/10 6 person-year, 3.795/10 6 persons-year, 3.879/10 6 person-year, and 2.890/10 6 person-year respectively. The RR of RDs was 1.797/10 6 person-year, 1.502/10 6 person-year, 1.857/10 6 person-year, and 1.483/10 6 person-year respectively. Significant difference exists between RR of FDs and RDs, with F=9.898 and p<0.05. In 2ELISA+ MP-NAT strategy, the RR of FDs was 3.508/10 6 person-year, 1.868/10 6 person-year, 2.204/10 6 person-year, and 1.765/10 6 person-year respectively. The RR of RDs was 0.948/10 6 person-year, 0.926/10 6 person-year, 0.748/10 6 person-year, and 0.682/10 6 person-year respectively. Statistical difference existed between RR of FDs and RDs, with F=17.126 and P<0.05. There was no significant difference between the RR of FDs in these two strategies with F=3.493 and P>0.05, while there was a difference between the RR of RDs in these two strategies with F=24.516 and P<0.05, and a difference between the RR of total donors (TDs) in these two strategies F=20.216 and P<0.05. Conclusions:The RR of TT HIV significantly decreased after the introduction of NAT into blood test among blood centers in China. There were some differences in the RR of HIV testing among different blood screening strategies. There could be significant differences in the RR of HIV testing among different groups of blood donors. Compared with FDs, RDs is the low risk group for HIV.

Objective: To summarize the experience of endoscopic endonasal approach in the treatment of anterior skull base with intra-extracranial extension meningioma, and to analyze the perioperative quality of life of patients, and to discuss the safety and efficacy of the treatment. Methods: A total of 83 cases of anterior skull base with intra-extracranial extension meningioma admitted to Xuanwu Hospital, Capital Medical University from October 2007 to October 2019, who underwent endoscopic endonasal approach tumor resection, were retrospectively analyzed. The quality of life of the patients were evaluated by Anterior Skull Base Questionnaire (ASBQ) before and after surgery. The surgical techniques, extent of tumor resection, postoperative complications and the changes of patients' quality of life were summarized and analyzed. SPSS 23.0 software was used for statistical analysis. Results: A total of 57 anterior skull base with intra-extracranial extension meningioma patients were enrolled according to the inclusion and exclusion criteria, including 23 males and 34 females, aging (48.6±16.6) years. Fifty cases (87.7%) reached or exceeded Simpson gradeⅠ resection, and 7 cases underwent subtotal resection. Symptoms relief was as follows: headache relief in 45/50 (90%), vision improvement in 18/19 (94.7%), olfaction improvement in 6/45 (13.3%), mental symptoms improvement in 3/9 (33.3%), and seizure relief in 5/7 (71.4%). Postoperative complication included mental symptoms in 5 cases, cerebrospinal fluid leakage in 2 cases, epilepsy in 2 cases, frontal lobe hemorrhage in 1 case, and intracranial infection in 1 case. The follow-up period was 38 to 144 months. There were two cases recurring and no death. ASBQ assessment showed significant improvement in general condition, physical function, role function, mood disorder, pain, vision impairment, and sleep disturbance at 1 month postoperatively, with continued improvement thereafter, and reached stable at 6 months postoperatively. Conclusion: Endoscopic endonasal approach surgery is able to achieve safe and effective tumor resection for anterior skull base intra-extracranial extension meningioma, and the quality of life of patients can be improved steadily.
Female ; Humans ; Male ; Meningeal Neoplasms/surgery* ; Meningioma/surgery* ; Neoplasm Recurrence, Local/pathology* ; Postoperative Complications ; Quality of Life ; Retrospective Studies ; Skull Base/surgery* ; Skull Base Neoplasms/surgery*

Objective: To investigate the expression of miR-155 in peripheral blood of type 2 diabetes patients(T2 DM) associated with diabetic foot ulcer(DFU) and its relationship with the onset of DFU. Methods: Sixty newly diagnosed T2 DM patients without DFU(T2 DM group), 112 T2 DM patients with DFU(DFU group), and 60 healthy controls with normal glucose tolerance(NC group) were included. MiR-155 levels were determined by quantitative real-time PCR, while clinical features and risk factors of DFU were explored. Results: A significant decrease in the expression level of miR-155 in peripheral blood was observed in T2 DM group compared with NC group(P<0.05), and a markedly increased miR-155 expression level was noted in DFU group compared with T2 DM group(P<0.01). Moreover, there was a positive correlation between the expression level of miR-155 in peripheral blood and the course of foot ulcer and Wagner grade of foot ulcer(P=0.02,P=0.01) while a negative correlation in the expression level of miR-155 with healing rate of DFU after eight weeks(P=0.04). The multiple stepwise logistic regression analysis confirmed that a high expression of miR-155 was an independent risk factor for DFU(OR=3.98,P=0.002). Conclusion An increased expression of miR-155 in peripheral blood of T2 DM patients is an independent risk factor for DFU and is closely related to the prognosis of DFU.

Objective:To examine the correlations of microRNA-34c(miR-34c) expression in the peripheral blood with the onset of diabetic foot ulcer(DFU)and diabetic foot osteomyelitis(DFO)in patients with type 2 diabetes mellitus(T2DM).Methods:Sixty newly-diagnosed T2DM patients without DFU(T2DM group), 112 T2DM patients with DFU(DFU group), and 60 healthy controls with normal glucose tolerance(NC group)were included. The 112 T2DM patients with DFU were further divided into DFO( n=64)and NDFO( n=48)groups. The levels of miR-34c were determined by quantitative real-time PCR, while clinical features and risk factors of DFU and DFO were explored. Results:A significant increase in the expression level of miR-34c in peripheral blood was observed in T2DM group compared with NC group[2.99(1.45-6.22) vs 1.01(0.89-1.52), P<0.05], and a markedly increased miR-34c expression level was noted in DFU group compared with T2DM group [9.65(6.15-18.63) vs 2.99(1.45-6.22), P<0.01]. Additionally, the expression level of miR-34c in peripheral blood significantly increased in DFO group compared to NDFO group [13.46(8.89-19.11) vs 6.02(5.93-14.72), P<0.01]. Moreover, there was a positive correlation between the expression level of miR-34c in peripheral blood and the amputation rate in patients in DFU group( P=0.030), and a negative correlation in the expression level of miR-34c( P=0.025)with healing rate of DFU after eight weeks. The multivariate logistic regression analysis confirmed that a high expression of miR-34c was an independent risk factor for DFU and DFO( OR=3.52, 4.13; both P<0.01). Conclusion:An increased expression of miR-34c in peripheral blood of T2DM patients might be closely related to the occurrence, development, and prognosis of DFU and DFO.

A 44-year-old pregnant woman (G5P3) who had delivered two children with DMD was admitted and underwent prenatal diagnosis at Peking Union Medical College Hospital in 2019. (1) The karyotype of the fetus in 2019 was 47,XXY. The fluorescence in situ hybridization (FISH) result showed a nucish(CSPX×2, CSPY×1)[100] and multiplex ligation-dependent probe amplification (MLPA) suggested sex chromosome abnormality. Based on the above results, the fetus was diagnosed with Klinefelter syndrome. Fetal short tandem repeat (STR) linkage analysis and Sanger sequencing indicated a heterozygous mutation of c.9543delG(p.Trp3181CysfsTer2). (2) Sanger sequencing of the proband found a novel frameshift mutation of c.9543delG(p.Trp3181CysfsTer2 ) in exon 65 of the DMD gene. (3) The male fetus performing prenatal diagnosis in 2008 was found to have the same maternal gene markers as the proband with the same genotype. While the genotype of the fetus in 2009 obtained a different maternal gene marker from the proband and did not detect the same DMD gene mutation. This fetus was delivered at full term and was good during follow-up. (4) The elder brother and cousin of the proband had the same frameshift mutation in exon 65 of the DMD gene as the proband. The mother of the proband was a heterozygous carrier of the mutation.