Primary renal NUT carcinoma identified by next-generation sequencing: a case report and literature review

xlomafota13 shared this article with you from Inoreader Primary renal NUT carcinoma identified by next-generation sequencing: a case report and literature review Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):662-669. eCollection 2021. ABSTRACT BACKGROUND: NUT carcinoma is a rare aggressive squamous cell carcinoma subtype genetically characterized by NUTM1 rearrangements. NUT carcinoma can be easily misdiagnosed as an undifferentiated carcinoma or Ewing sarcoma due to its primitive differentiation. CASE PRESENTATION: We report a case of renal-derived NUT carcinoma diagnosed as a malignant small round-cell tumor resembling Ewing sarcoma/primitive neuroectodermal tumor where the diagnosis was revised to NUT carcinoma with a characteristic NUTM1 rearrangement based on next-generation sequencing (NGS). The patient received a standard NUT carcinoma treatment after recurrence but died of first-line chemotherapy failure due to advanced neoplasm progression. CONCLUSION: Routine NUT immunohistochemistry staining, NGS, and/or fluorescent in situ hybridization for poorly differentiated carcinoma and sarcoma can help avoid misdiagnosis of NUT carcinoma-related tumors, allowing patients to benefit from bromodomain and extra-terminal motif inhibitor therapy. PMID:34093952 | PMC:PMC8167490 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Identification of a tumor microenvironment-associated prognostic gene signature in bladder cancer by integrated bioinformatic analysis

xlomafota13 shared this article with you from Inoreader Identification of a tumor microenvironment-associated prognostic gene signature in bladder cancer by integrated bioinformatic analysis Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):551-566. eCollection 2021. ABSTRACT Bladder cancer is a common malignancy in the urinary system. Stromal and immune cells in tumor microenvironments, including those in the bladder cancer microenvironment, can serve as prognostic markers. However, the complex processes of bladder cancer necessitate large-scale evaluation to better understand the underlying mechanisms and identify biomarkers for diagnosis and treatment. We used the Estimation of STromal and Immune cells in MAlignant Tumors using Expression data algorithm to assess the association between stromal and immune cell-related genes and overall survival of patients with bladder cancer. We also identified and evaluated differentially expressed genes between cancer and non-cancer tissues from The Cancer Genome Atlas. Patients were categorized into different prognosis groups according to their stromal/immune scores based on differential gen e expression. In addition, the prognostic value of the differentially expressed genes was assessed in a separate validation cohort using the Gene Expression Omnibus microarray dataset GSE13507, which identified nine genes (TNC, CALD1, PALLD, TAGLN, TGFB1I1, HSPB6, RASL12, CPXM2, and CYR61) associated with overall survival. Multivariate regression analysis showed that three genes (TNC, CALD1, and PALLD) were possible independent prognostic markers for patients with bladder cancer. Multiple gene set enrichment analysis of individual genes showed strong correlations with stromal and immune interactions, indicating that these nine genes may be related to carcinogenesis, invasion, and metastasis of bladder cancer. These findings provide useful insight into the molecular mechanisms of bladder cancer development, and suggest candidate biomarkers for prognosis and treatment. PMID:34093942 | PMC:PMC8167492 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Integrative analysis of somatic mutations and differential expression profiles in glioblastoma based on aging acceleration

xlomafota13 shared this article with you from Inoreader Integrative analysis of somatic mutations and differential expression profiles in glioblastoma based on aging acceleration Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):582-595. eCollection 2021. ABSTRACT BACKGROUND: Glioblastoma (GBM) is an aggressive brain tumor and the mechanisms of progression are very complex. Accelerated aging is a driving factor of GBM. However, there has not been thorough research about the mechanisms of GBM progression based on aging acceleration. METHODS: The aging predictor was modeled based on normal brain samples. Then an aging acceleration background network was constructed to explore GBM mechanisms. RESULTS: The accelerated aging-related mechanisms provided an innovative way to study GBM, wherein integrative analysis of somatic mutations and differential expression revealed key pathologic characteristics. Moreover, the influence of the immune system, the nervous system and other critical factors on GBM were identified. The survival analysis also disclosed crucial GBM markers. CONCLUSION: An integrative analysis of multi-omics data based on aging acceleration identified new driving factors for GBM. PMID:34093944 | PMC:PMC8167488 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Heterotopic ossification in psammomatous spinal meningioma: a diagnostic controversy

xlomafota13 shared this article with you from Inoreader Heterotopic ossification in psammomatous spinal meningioma: a diagnostic controversy Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):627-632. eCollection 2021. ABSTRACT Heterotopic ossification (HO), a synonym for osseous metaplasia, is a pathological phenomenon, characterized by abnormal bone formation outside the skeletal system observed commonly in various neoplastic and non-neoplastic diseases. HO occurring in meningioma is exceptionally rare. We reportherein an unusual case of spinal meningioma containing numerous calcified psammoma bodies and extensive HO in a 75-year-old woman, who presented with progressive worsening bilateral lower limb weakness and numbness. The presence of remarkable bone formation within a meningioma is controversial among pathologists; while some regard them as psammomatous meningioma as the primary diagnosis, others prefer osteoblastic meningioma, a form of metaplastic meningioma. There is compelling molecular data to advocate that HO is an active disease process involving metaplastic (osseous) differentiation of meningioma stroma mesenchymal stem-like cells, but not the meningothelial-derived tumor cells. Henceforth, the term "metaplastic meningioma" may not be appropriate in this context. A plausible designation as "psammomatous meningioma with osseous metaplasia" defines this entity more accurately. This paper highlights the need for a unifying nomenclature to reduce diagnostic controversy caused by conflicting terms in the literature. The possible pathogenesis of this intriguing phenomenon is discussed. PMID:34093948 | PMC:PMC8167497 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Involvement of IGF/IGFBP/Erk axis in the exercise-mediated preventive effects on colorectal cancer in rats

xlomafota13 shared this article with you from Inoreader Involvement of IGF/IGFBP/Erk axis in the exercise-mediated preventive effects on colorectal cancer in rats Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):608-617. eCollection 2021. ABSTRACT Recent studies have indicated that downregulation of insulin-like growth factor (IGF)-1 and its downstream targets are the main mechanisms underlying the anti-cancer impact of exercise. Therefore, we examined the impact of exercise on chemically induced-aberrant crypt foci (ACF), the earliest step of colorectal carcinogenesis, in rats and involvement of the IGF-1/IGF binding protein (IGFBP)-3/Erk axis. Twenty-four male Wistar rats were assigned into two groups (n=12): the control and exercise group. After eight weeks of training intervention, 6 rats were randomly selected from each group and received four injections of 1,2-dimethylhydrazine (DMH; 40 mg/kg), for two weeks. 0.2% methylene blue staining was used to evaluate the number of ACF in the colon. IGF-1 and IGFBP-3 protein levels in the serum were measured using commercially available ELISA kits for rat. The expression levels of proliferating cell nuclear antigen (PCNA), Erk1/2 and p-Erk1/2 were evaluated in colon tissue. Histological assessments were also performed in all groups. We found that the total number of ACF was significantly lowered after eight-week exercise (P<0.05). Moreover, the exercise program downregulated the IGF-1, PCNA, and p-Erk1/2 expressions and upregulated IGFBP-3 expression. Exercise was also found to increase the goblet cell number and improved colon architecture. Our finding demonstrated reduced ACF number in rat colons following exercise training, and this function may be associated with the inhibition of IGF-1/IGFBP-3/Erk1/2 signaling. Therefore, exercise appears to result in a lower number of ACF for preventing colon cancer. PMID:34093946 | PMC:PMC8167496 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Associations of BNIP3 and DAPK1 gene polymorphisms with disease susceptibility, clinicopathologic features, anxiety, and depression in gastric cancer patients

xlomafota13 shared this article with you from Inoreader Associations of BNIP3 and DAPK1 gene polymorphisms with disease susceptibility, clinicopathologic features, anxiety, and depression in gastric cancer patients Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):633-645. eCollection 2021. ABSTRACT The purpose of this study is to explore the associations of BNIP3 and DAPK1 polymorphisms with disease susceptibility, clinicopathologic characteristics, depression, and anxiety in gastric cancer (GC) patients. In this study, 150 GC patients and 100 healthy controls were recruited. 1000 Genomes database and Haploview 4.0 software were used to select tag SNPs. Improved multiplex ligase detection reaction was used for genotyping. Data were analyzed using Chi-square test (χ2 test) and univariate and multivariate logistic regression. The results demonstrated that the rs10781582 of BNIP3 in the dominant model was associated with a reduced risk of GC in the younger group (P BH = 0.015), and the minor allele G of rs1329600 at DAPK1 was associated with reduced risk of GC (P BH = 0.018). In the stratified analysis, the rs 3793742 and rs10781582 of BNIP3 in the dominant model were associated with gender and age of GC patients, respectively (rs3793742: P BH = 0.033; rs10781582: P BH = 0.030). The rs10781582 of BNIP3 in the dominant model was correlated with depression in GC patients (P BH = 0.003). However, no association was found between BNIP3 and DAPK1 polymorphisms and differentiation degree, TNM stage, lymph node metastases, visceral metastasis, and anxiety. In summary, polymorphisms of BNIP3 and DAPK1 were associated with a protective effect against GC. So far, this is the first study to explore the association between BNIP3 and DAPK1 gene polymorphism and GC risk, which may provide new insight about biologic mechanisms of GC pathogenesis. PMID:34093949 | PMC:PMC8167493 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Screening of non-alcoholic steatohepatitis (NASH)-related datasets and identification of NASH-related genes

xlomafota13 shared this article with you from Inoreader Screening of non-alcoholic steatohepatitis (NASH)-related datasets and identification of NASH-related genes Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):567-581. eCollection 2021. ABSTRACT Non-alcoholic steatohepatitis (NASH) is a common liver disease in the western world. The mechanisms behind NASH formation are poorly understood, but there may be multiple targets considering the disease's multifactorial nature. To explore the genes related to the pathogenesis of NASH, we downloaded clinical data and gene expression of NASH patients from the Gene Expression Omnibus database (GEO). We identified 281 genes with a common expression in two NASH-related datasets (GSE89632 and GSE83452), suggesting that they may be related to NASH. Further study showed that Angptl4, Foxo1, and Ttc39B might be essential for NASH progression, and these have been poorly studied. Therefore, we explored their roles in NASH. Our data show that these genes participate in the development of NASH through lipid metabolism. This suggests that the three gene s can be used as therapeutic targets in NASH. PMID:34093943 | PMC:PMC8167495 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Expression of lncRNA NEAT1 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and its correlation with Th1/Th2 balance

xlomafota13 shared this article with you from Inoreader Expression of lncRNA NEAT1 in peripheral blood mononuclear cells of patients with systemic lupus erythematosus and its correlation with Th1/Th2 balance Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):646-652. eCollection 2021. ABSTRACT OBJECTIVE: This study explored and analyzed the expression of LncRNA NEAT1 in peripheral blood mononuclear cells (PBMCs) of patients with systemic lupus erythematosus (SLE) and its correlation with Th1/Th2 balance. METHODS: We chose 97 SLE patients admitted in our hospital from Jun. 2016 to Feb. 2019 as SLE group, and randomly selected 50 healthy volunteers that underwent physical examination in our hospital during the same period as control group. We detected the expression of LncRNA NEAT1 in PBMCs of the two groups of subjects by qRT-PCR, the degree of Th1 and Th2 cells in both groups by flow cytometry, and the expression of TFN-γ and IL-4 in both groups by ELISA. RESULTS: The relative expression of LncRNA NEAT1 in PBMCs of SLE group was higher than that of control group (P<0.05). The proportion of Th1 and the ratio of Th1/Th2 cells in PBMCs were markedly lower in the SLE group than the control group (P<0.05), while the proportion of Th2 was higher in the SLE group than the control group (P<0.05). IFN-γ level in SLE group was much lower than the control group (P<0.05), while IL-4 level was evidently higher in the SLE group than in controls (P<0.05). The expression of LncRNA NEAT1 in PBMCs of SLE group was notably negatively correlated with Th1 proportion and Th1/Th2 ratio (P<0.05), while positively correlated with Th2 proportion (P<0.05). CONCLUSION: LncRNA NEAT1 in PBMCs of SLE patients is abnormally highly expressed, and this expression is negatively correlated with Th1/Th2 balance. These two factors may interact and jointly affect the occurrence and progression of SLE. PMID:34093950 | PMC:PMC8167491 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Is sputum cytology reliable for detection of atypical lung epithelial proliferative changes triggered by cigarette smoking?

xlomafota13 shared this article with you from Inoreader Is sputum cytology reliable for detection of atypical lung epithelial proliferative changes triggered by cigarette smoking? Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):618-626. eCollection 2021. ABSTRACT BACKGROUND: In recent years, Saudi Arabia has witnessed major tobacco smoking-related disease, such as cardiovascular disease and cancer, particularly among the younger population. METHODOLOGY: The present study aimed at evaluating the effect of cigarette smoke on lung epithelial cells. RESULTS: This was a cross-sectional case-control study involving 300 apparently healthy volunteers living in Ha'il, Northern Saudi Arabia. Cigarette smokers (N = 100) were used as cases, and non-smokers (N = 200) were used as controls. A sputum specimen was obtained from each participant, employing all necessary safety precautions and sample adequacy measures. RESULTS: Among 300 study subjects, cytologic atypia was identified in 14/300 (4.7%). Among the 14 cases with atypical cytologic changes, 13/14 (92.9%) were in smokers and 1/14 (7.1%) was in a non-smoker. The risk of lung cytologic atypia associated with cigarette smoking, was OR (95% CI) = 29.73 (3.82-230.87), P = 0.0001. Out of 300 study subjects, metaplasia was identified in 45/300 (15%). Among 45 cases with metaplastic changes, 26/45 (57.8%) were in the smokers and 19/45 (42.2%) were in non-smokers. The risk of lung epithelial metaplasia associated with cigarette smoking was OR (95% CI) = 3.34 (1.74-6.41), P = 0.0003. CONCLUSION: Cigarette smoking is a significant risk for developing lung epithelial atypia, lung metaplasia, and inflammatory cell infiltrate (especially chronic inflammation). Sputum cytology is a simple, non-invasive method that can be used in screening at-risk populations for early detection of lung proliferative changes associated with tobacco smoking. PMID:34093947 | PMC:PMC8167489 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.