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Background: Breast cancer has emerged as the foremost cause of female mortality worldwide, with triple negative breast cancer accounting for approximately 10–15% of all breast cancer cases. The triple negative breast cancer family has obvious familial heritability, but no potential pathogenic variation was found in BRCA1/2. Case presentation: The patient was a 56-year-old woman of Han ethnicity. The clinical characteristics of this patient with breast cancer were summarized, peripheral blood of one normal female and two patients with breast cancer in this family was collected, DNA was extracted, and the potential pathogenic variation was analyzed by whole exome sequencing. The normal female and two patients with breast cancer in this family shared a maternal grandmother. The proband's right breast mass was punctured, and the biopsy showed invasive carcinoma of the right breast, grade II–III, with necrosis. No mutation was found in BRCA1/2 gene test; immunohistochemical of surgical specimens showed triple negative breast cancer. Three mutation types and 17 gene mutation sites were detected through bioinformatics prediction analysis on the basis of co-segregation of genotype and phenotype within the family and whole exome sequencing results. Combined with the Cancer Genome Atlas database comprehensive analysis, the MT1E c.G107A (p.C36Y) mutation may be a potential pathogenic site. Conclusions: Through whole exome sequencing, we identified a total of 17 potential pathogenic mutation loci, none of which have been reported thus far. Therefore, our work expanded the gene mutation spectrum of familial hereditary triple negative breast cancer, which can provide more basis for family genetic counseling. [ABSTRACT FROM AUTHOR]

Abstract Background Pneumonia is a common lung disease in children with high fatality rate. Notoginsenoside R1 (NGR1) is the main active component extracted from the roots of Panax notoginseng (Burk.) F.H. Chen (Araliaceae). Here, we carefully explored the potential anti-inflammatory and protective effects of NGR1 on lipopolysaccharide (LPS)-induced lung fibroblast MRC-5 cell injury. Methods Viability and apoptosis of MRC-5 cells after different treatment or transfection were respectively assessed using CCK-8 assay and Annexin V-FITC/PI staining. The expression levels of microRNA-132 (miR-132), IL-1β, IL-6 and TNF-α in MRC-5 cells were measured using qRT-PCR. MicroRNA transfection was conducted to reduce the expression level of miR-132. Western blotting was used to analyze the protein expression levels of key factors involving in cell proliferation, apoptosis, NF-κB pathway and JNK pathway. Results LPS treatment caused MRC-5 cell proliferation inhibition, apoptosis and over-production of inflammatory cytokines. NGR1 treatment had no significant effects on MRC-5 cell proliferation, apoptosis and production of inflammatory cytokines, but protected MRC-5 cells from LPS-caused cell proliferation inhibition, apoptosis and over-production of inflammatory cytokines. In addition, NGR1 increased the expression level of miR-132 in MRC-5 cells. Knockdown of miR-132 reversed the protective effects of NGR1 on LPS-treated MRC-5 cells. Furthermore, NGR1 attenuated LPS-activated NF-κB and JNK pathways in MRC-5 cells via up-regulation of miR-132. Conclusion This research confirmed the protective roles of NGR1 in lung fibroblast cell inflammatory injury. NGR1 protected MRC-5 cells from LPS-caused inflammatory injury through up-regulating miR-132 and then inactivating NF-κB and JNK pathways. Highlights • LPS stimulates MRC-5 cell inflammatory injury. • NGR1 protects MRC-5 cells from LPS-stimulated inflammatory injury. • NGR1 increases the expression level of miR-132 in MRC-5 cells. • miR-132 is related to the protective effects of NGR1 on LPS-treated MRC-5 cells. • NGR1 attenuates LPS-activated NF-κB and JNK pathways through up-regulating miR-132. [ABSTRACT FROM AUTHOR]

Sclerosing epithelioid fibrosarcoma (SEF) is a rare subtype of Fibrosarcoma and was first reported in 1995. This tumour is rarely encountered and can easily be mistaken by clinicians for other diagnoses. This paper reports one case of SEF and review related literature. Objectives: To determine the clinical pathologic characteristics and discuss differential diagnosis of sclerosing epithelioid fibrosarcoma (SEF). Methods: One case of SEF was studied by clinical analysis, light microscopy and the review of the literature. Results: The patient was an adult and had a tumor located in the subcutaneous tissue of the left leg, which was painless and grew slowly. Macroscopically, it was described as nodular and non-encapsulated. The cut section was gray-white, firm to elastic in consistency. The microscopic examination showed that the round to ovoid epithelioid cells with clear or eosinophilic cytoplasm arranged in cords, nests, sheets or alveolar pattern. The stroma showed a dense hyalinized collagenous background. Conclusions: Sclerosing epithelioid fibrosarcoma is a low-grade variant of fibrosarcoma, histologically, it should be differentiated from a variety of tumors which have the epithelioid appearance and sclerosing stroma. [ABSTRACT FROM AUTHOR]

Hemangiopericytoma (HPC) in central nervous system is a rare tumor, his tumor has a high recurrence rate and the characteristics of extracranial metastases. Objectives: To investigate the clinicopathological features, imaging features, immunohistochemical phenotype of haemangiopericytoma (HPC) of central nervous system. Design: Hospital based crossectional prospective study. Period: From 24th October to 26th October 2012. Setting: First People's Hospital of Jining City, China. Methods: The clinical manifestations, imaging features, histopathological and immunohistochemical features were analyzed combining the review of the literature in one case of central HPC. Results: The Gross examination revealed the size of the tumor was 5cm × 4cm × 1.5cm; the section is gray, medium soft texture, and part of the area had capsule. The microscopic examination showed that the tumor cells were abundant and the same size, showing round, oval or short spindle shape. The cytoplasm was eosinophilic, and part of it was slightly translucent. The nuclei were ovoid, and the nucleoli were inconspicuous. A lot of capillaries lined by endothelial cells were seen in the tumor tissue, and the blood vessels were dilated like "staghorn" in some areas. Immunohistochemistry showed that tumor cells expressed Vimentin, CD34, CD99, Bcl-2, PR protein. They didn't express EMA, SMA, and S-100 protein. The proliferation index of ki-67 is about 4%. Conclusions: The central haemangiopericytoma is a rare tumor, having no specific clinical manifestations and imaging features. The final diagnosis requires a combination of histopathological and immunohistochemical examination, and it should be differentiated from meningioma, solitary fibrous tumor, hemangioblastoma and mesenchymal chondrosarcoma, etc. [ABSTRACT FROM AUTHOR]

Prostate cancer (PCa) is an extremely common malignant tumor of the male genitourinary system, originating from the prostate gland epithelium. Male patients are prone to relapse after treatment, which seriously threatens their health. Phosphoinositide 3‐kinase (PI3K)/protein kinase B (PKB, also known as Akt) plays an important role in the growth, invasion, and metastasis of PCa. This review aimed to present an overview of the mechanism of action of the PI3K/AKT signaling pathway in PCa and discuss the application prospects of inhibitors of this pathway in treating PCa, providing a theoretical basis and reference for its clinical treatment targets. [ABSTRACT FROM AUTHOR]

Objective The outbreak of COVID-19 caused by SARS-CoV-2 has led to a serious worldwide pandemic. Quantitative reverse transcription–polymerase chain reaction (qRT-PCR)–based methods were recommended for routine detection of SARS-CoV-2 RNA. Because the reaction time and analytical sensitivity of qRT-PCR limits the diagnosis of SARS-CoV-2, development of a quick process of SARS-CoV-2 detection technology with high analytical sensitivity remains urgent. Methods We combined isothermal amplification and fluorescence detection technology to develop a new auto-recombinase polymerase amplification (RPA)-fluorescence platform that could be used in the diagnosis of SARS-CoV-2. Results By optimization of primers and probes, the RPA platform could detect SARS-CoV-2 nucleotides within 15 min. The limits of detection and specificity of the auto-RPA-fluorescence platform were 5 copies/µL and 100%, respectively. The accuracy of detection of the auto-RPA-fluorescence platform in the 16 positive samples was 100%. Conclusion The RPA platform is a potential technology for the diagnosis of SARS-CoV-2 infection. [ABSTRACT FROM AUTHOR]

Introduction: Prostate cancer is one of the most common cancers threatening public health worldwide. Although chemotherapy plays an important role in treating prostate cancer, it leads to many adverse effects and is prone to drug resistance. Quercetin, a natural product, is used in traditional Chinese medicine because of its strong antitumor activity and few side effects. Methods: In this study, we combined quercetin and paclitaxel to kill prostate cancer cells in vivo and in vitro, and we investigated the relevant mechanism of this combination treatment. After the cancer cells were treated with quercetin or/and paclitaxel, cell growth inhibition, apoptosis, the cell cycle, reactive oxygen species (ROS) generation, and several endoplasmic reticulum (ER) stress signaling pathway related gene expressions were evaluated. Results: The combined treatment with quercetin and paclitaxel significantly inhibited cell proliferation, increased apoptosis, arrested the cell cycle at the G2/M phase, inhibited cell migration, dramatically induced ER stress to occur, and increased ROS generation. In a PC-3 cancer-bearing murine model, this combination treatment exerted the most beneficial therapeutic effects, and quercetin increased the cancer cell-killing effects of paclitaxel, with nearly no side effects compared with the single paclitaxel treatment group. Conclusion: Combination treatment possessed enhanced anti-cancer effects, and these results will provide a basis for treating prostate cancer using a combination of quercetin and paclitaxel. [ABSTRACT FROM AUTHOR]