Maffucci syndrome complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation: a case report.

BACKGROUND: Maffucci syndrome (MS) is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas, associated with an increased risk of developing malignant tumors. Given their rarity, the pathogenesis of these tumors has not been clarified, and there is no standard treatment. CASE PRESENTATION: We present a case of a 45-year-old man with MS to supplement the clinical manifestations and explore the molecular mechanism of MS. The patient underwent amputation surgery to inhibit tumor development and was diagnosed with MS with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis results revealed isocitrate dehydrogenase 1 (IDH1) R132C mutation in chondrosarcoma lesions but not in blood DNA. CONCLUSIONS: This case report showed MS complicated by giant chondrosarcoma in the left ankle with an IDH1 R132C mutation, which is appropriate to monitor the development of MS pathology and other concomitant lesions.

lncRNA CASC11 promotes cancer cell proliferation in bladder cancer through miRNA-150.

Long noncoding RNAs (lncRNAs) CASC11 is an oncogenic lncRNA in gastric cancer and colorectal cancer. Our study aimed to investigate the role of lncRNA CASC11 in bladder cancer. In this study we showed that plasma lncRNA CASC11 was upregulated, while plasma miRNA-150 was downregulated in patients with early-stage bladder cancer than in healthy controls. Altered expression of plasma lncRNA CASC11 and miRNA-150 separated patients with bladder cancer from healthy controls. lncRNA CASC11 expression was inversely correlated with miRNA-150 expression in patients with bladder cance but not in healthy controls. Overexpression of lncRNA CASC11 mediated the inhibition of miRNA-150 expression in cancer cells, while miRNA-150 overexpression did not significantly alter lncRNA CASC11 expression. lncRNA CASC11 overexpression promoted, while miRNA-150 overexpression inhibited cancer cell proliferation. miRNA-150 also attenuated the enhancing effects of lncRNA CASC11 overexpression on cancer cell proliferation. However, overexpression of lncRNA CASC11 showed no significant effects on cancer cell migration and invasion. Therefore, lncRNA CASC11 may promote cancer cell proliferation in bladder cancer, and the actions of lncRNA CASC11 are likely through miRNA-150.

Sumoylation Negatively Regulates CSR1-Dependent Prostate Cancer Cell Death.

BACKGROUND/AIMS: SUMOylation is a dynamic process and reversed by the activity of SUMO-specific proteases (SENPs) family. SENP1, a member of this family, is highly expressed and plays oncogenic roles in diverse cancers including prostate cancer. However, the SENP1-transgenic mice exhibit aberrant transformation of the mouse prostate gland but do not develop cancer. Cellular Stress Response 1 (CSR1) is a tumor suppressor gene and frequently deleted in prostate cancers. Overexpression of CSR1 in prostate cancer cells inhibits colony formation, anchorage-independent growth and induces cell death. METHODS: The relationship between CSR1 and SENP1 were determined by immunoprecipitation-based proteomics screen and verified by GST-pull down assay. In vivo SUMOylation assay was used to detect the direct effect of SENP1 in the regulation of CSR1. Clustered regularly interspaced short palindromic repeats (CRISPR)-based gene editing was used to generate Senp1-/- and CSR1-/- PC3 cells. FACS assay was used to determine the apoptosis ratio of cells after transfection. RESULTS: CSR1 is SUMOylated at K582 and rapid ubiquitinated and degradated in prostate cancer cells. SENP1 interacts with and deSUMOylates CSR1 to prevent its degradation and enhances CSR1-dependent prostate cancer cell death. CONCLUSION: Thus, our data indicates that CSR1 is a critical SUMOylated substrate of SENP1 that might partially explain the controversial roles of SENP1 in prostate cancer development.

[Meatoplasty with pedicle flap for meatal stenosis secondary to chronic balanitis].

OBJECTIVE: To evaluate the effect of meatoplasty with the pedicle flap in the treatment of meatal stenosis secondary to chronic balanitis. METHODS: We retrospectively analyzed 32 cases of meatal stenosis secondary to chronic balanitis treated by meato- plasty with the pedicle flap. All the patients had a history of chronic balanitis and had received meatal dilatation or simple ventral mea- totomy without significant effect. Their mean maximum urinary flow rate (Qmax) was (4.3 ± 2.4) ml/s. During the operation, A "/\"-shaped incision was made in the healthy epidermis and a flap was harvested from the frenulum. After complete removal of the scar, the flap was placed into the urethral wall, followed by reconstruction of the external urethral orifice. RESULTS: The patients were fol- lowed up for 6 to 30 months, which revealed smooth urination in all the patients with Qmax of (26.7 ± 4.5) ml/s and normal erectile function and uresiesthesis. CONCLUSION: With little invasiveness and few complications, meatoplasty with the pedicle flap is an ideal surgical method for the treatment of meatal stenosis secondary to chronic balanitis. However, there might be some change in the normal appearance of the balanus postoperatively, and its long-term effect needs further observation.

Exosomal Long Non-Coding Ribonucleic Acid Ribonuclease Component of Mitochondrial Ribonucleic Acid Processing Endoribonuclease Is Defined as a Potential Non-Invasive Diagnostic Biomarker for Bladder Cancer and Facilitates Tumorigenesis via the miR-206/G6PD Axis.

Bladder cancer (BLCA) is one of the cancers that is highly sensitive to specific non-invasive tumor biomarkers that facilitate early diagnosis. Exosome-derived long non-coding RNAs (lncRNAs) hold promise as diagnostic biomarkers for BLCA. In this study, we employed RNA-sequencing to compare the expression patterns of lncRNAs in urine exosomes from three BLCA patients and three healthy individuals. RMRP displayed the most significant differential expression. Elevated RMRP expression levels were observed in urinary and plasma exosomes from BLCA patients compared with those from healthy individuals. RMRP exhibited significant associations with certain BLCA patient clinicopathological features, including tumor stage, poor prognosis, and tumor grade. Combined diagnosis using RMRP in urine and plasma exosomes demonstrated a superior diagnostic performance with receiver operating characteristic curve analysis. RMRP was found to be related to BLCA tumor progression and the cell migration and invasion processes via the miR-206/G6PD axis both in vitro and in vivo. Mechanistically, RMRP serves as an miR-206 sponge, as suggested by dual-luciferase reporter assays and RNA immunoprecipitation. Our study suggests that the combined diagnosis of RMRP in urinary and plasma exosomes can serve as an excellent non-invasive diagnostic biomarker for BLCA patients. Additionally, targeting the RMRP/miR-206/G6PD axis holds promise as a therapeutic strategy for BLCA.

Sensory Evaluation and Model Prediction of Vacuum-Packed Fresh Corn during Long-Term Storage.

The postharvest shelf life of fresh corn largely depends on the packaging method and storage temperature. This study investigated the effect of vacuum packaging (VP) with high-barrier (HB) or ordinary (OR) nylon/nylon/polypropylene (PP) composite films and the impact of storage temperature (4, 25, and 38 °C) on the shelf life of fresh corn. The sensory quality and color changes of the corn were evaluated, indicating a significant improvement in the glossiness (GL), sourness (SO), and color changes compared to corn packaged using OR films. The results showed that the HB films preserved corn freshness under refrigerated and normal temperature storage conditions, delaying color changes and SO development. A shelf-life model was established based on the Arrhenius equation. The predicted values of the corn at different temperatures were compared with the experimental data, indicating that the model could accurately predict the shelf life. The shelf life observed via sensory evaluation was more than 50% shorter than the results obtained by instrumental measurements. Therefore, sensory evaluation could be applied to determine shelf life and avoid food waste.

CASC1 Expression in Bladder Cancer Is Regulated by Exosomal miRNA-150: A Comprehensive Pan-Cancer and Bioinformatics Study.

This study explored the role of cancer susceptibility 1 (CASC1) in tumorigenesis and development as well as the key pathways affecting bladder cancer progression. CASC1 was examined in various normal tissues in humans using the HPA database to quantify its expression level and subcellular localization. CASC1 is abundantly expressed in tumor tissues, primarily in cytoplasmic vesicles and stroma. TIMER2 was used to analyze the correlation between CASC1 expression levels and the types of infiltrates associated with immune cells and immunosuppressive cells. MDSC, Treg, M2, and CAF were significantly correlated with CASC1 expression in various tumors. Comparing patients with and without CASC1 mutation, those with CASC1 mutation had worse overall survival, progression-free survival, and disease-free survival. The correlation between has-miR-150 and CASC1 (for the case of bladder cancer) was then analyzed, and the related ceRNA network was mapped. A negative relationship between CASC1 expression and has-miR-150 expression was found in cases of bladder cancer. And the presence of miR-150-targeted CASC1 may be associated with bladder cancer progression. CASC1 is expressed at elevated levels in various tumor tissues, and it is associated with tumorigenesis and development. Exosomes containing miR-150-targeted CASC1 may affect the progression of bladder cancer.

Identification of Prognostic Factors in Cholangiocarcinoma Based on Integrated ceRNA Network Analysis.

This study is aimed at screening prognostic biomarkers in cholangiocarcinoma (CHOL) based on competitive endogenous RNA (ceRNA) regulatory network analysis. Microarray data for lncRNAs, mRNA, and miRNAs were downloaded from the GEO and TCGA databases. Differentially expressed RNAs (DERs) were identified in CHOL and normal liver tissue samples. WGCNA was used to identify disease-related gene modules. By integrating the information from the starBase and DIANA-LncBasev2 databases, we constructed a ceRNA network. Survival analysis was performed, and a prognostic gene-based prognostic score (PS) model was generated. The correlation between gene expression and immune cell infiltration or immune-related feature genes was analyzed using TIMER. Finally, real-time quantitative PCR (RT-qPCR) was used to verify the expression of the 10 DERs with independent prognosis. A large cohort of DERs was identified in the CHOL and control samples. The ceRNA network consisted of 6 lncRNAs, 2 miRNAs, 90 mRNAs, and 98 nodes. Ten genes were identified as prognosis-related genes, and a ten-gene signature PS model was constructed, which exhibited a good prognosis predictive ability for risk assessment of CHOL patients (AUC value = 0.975). Four genes, ELF4, AGXT, ABCG2, and LDHD, were associated with immune cell infiltration and closely correlated with immune-related feature genes (CD14, CD163, CD33, etc.) in CHOL. Additionally, the consistency rate of the RT-qPCR results and bioinformatics analysis was 80%, implying a relatively high reliability of the bioinformatic analysis results. Our findings suggest that the ten-signature gene PS model has significant prognostic predictive value for patients with CHOL. These four immune-related DERs are involved in the progression of CHOL and may be useful prognostic biomarkers for CHOLs.

Choriocarcinoma Masquerading as Lung Abscess or Lung Cancer: A Case with Atypical Imaging Findings.

BACKGROUND: Choriocarcinoma is a highly malignant trophoblastic tumor. However, the awareness surrounding its atypical clinical presentation is insufficient. The presence of a solitary lung lesion without uterine lesions often leads to misdiagnosis or missed diagnosis, which in turn causes delayed treatment or even multiple metastases throughout the body. CASE PRESENTATION: We present the case of a 36-year-old female patient who was misdiagnosed with a lung abscess and received suboptimal anti-infective treatment. She then underwent left upper lobectomy and was misdiagnosed with lung cancer by abscess incision and drainage in thoracic surgery, however, the results after pleural effusion removal were suboptimal. During this time a breast nodule was found, and a large segment of the right breast was excised and misdiagnosed as breast cancer but was finally diagnosed as choriocarcinoma with multiple metastases of lung and breast. Multiple metastases were also detected in the head, liver, kidney, and bones. The patient underwent multiple adjuvant chemotherapies. The blood ß-hCG level gradually declined to normal. When we reported this case, that is, seven months after the diagnosis, the patient was still alive, and the disease was stable without progress. CONCLUSION: Choriocarcinoma with a solitary lung lesion as the first presentation and no lesions in the uterus is clinically rare. This may lead to a delay in diagnosis due to poor awareness of the disease and the appearance of multiple metastases throughout the body. Clinicians should be more aware of choriocarcinoma with an atypical presentation to reduce misdiagnosis and missed diagnosis.

Thoracoscopic Surgery for Glomus Tumor: An Uncommon Mediastinal Neoplasm and Iatrogenic Tracheal Rupture.

Mediastinal glomus tumors are rarely recognized, and only seven cases have been reported in the literature. Here, we describe a rare mediastinal glomus tumor and review the characteristics of this rare clinical case. The patient was a 50-year-old female who presented with coughing for 3 months. Her chest computed tomography scan demonstrated a localized tumor in the posterior superior mediastinum. Intraoperatively, we found a longitudinal rupture of the membranous trachea above the carina. We completely resected the tumor and repaired the tracheal rupture under a thoracoscopy using a pedicled muscle flap. The tissue was diagnosed as a mediastinal glomus tumor according to its histological and immunophenotypic characteristics.

Eight-plex iTRAQ labeling and quantitative proteomic analysis for human bladder cancer.

Bladder cancer is one of the most prevalent cancers worldwide, and increasing research has focused on new technologies for early detection of bladder cancer. For example, proteomic techniques for biomarker discovery have been implemented for the detection and analysis of protein changes in the tissues, blood, and urine from bladder cancer patients. In this present study, we evaluated the effectiveness of the eight-plex iTRAQ labeling and quantitative proteomic approaches for differentially analyzing proteins found in normal and bladder cancer tissues from individual patients. This study obtained 1627 identified and quantified proteins, and detected significant changes of expression in 35 proteins. In addition, both mass spectrometry and Western Blot results indicated that scaffold attachment factor B (SafB) and GTPase RAN binding protein 1 (RanBP1) were up-regulated in low-grade bladder cancer tissues. Overall, this study suggests that these two proteins are potential candidates as predictive and diagnostic biomarkers and that they may be potentially used as the therapeutic targets for drug discovery.

MiRNA-125b inhibits proliferation and migration by targeting SphK1 in bladder cancer.

BACKGROUND: MicroRNAs (miRNAs) are small, non-coding RNAs (18-25 nucleotides) that post-transcriptionally modulate gene expression by negatively regulating the stability or translational efficiency of their target mRNAs.The purpose of this study was to investigate the expression levels of miR-125b in human bladder cancer and its potential role in disease pathogenesis. METHODS: The expression level of miR-125b was measured in 40 bladder cancer specimens and adjacent normal breast tissues by quantitative polymerase chain reaction (qPCR). MTT and colony formation assays, transwell, cell cycle assays were conducted to explore the potential function of miR-125b in human T24 bladder cancer cells. Luciferase reporter assays were performed to analyze the regulation of putative target of miR-125b. The effects of modulating miR-125b on endogenous levels of this target were subsequently confirmed via qRT-PCR and Western blot. RESULTS: The expression of miR-125b in bladder cancer specimens was lower than adjacent normal tissues (P < 0.05). Overexpression of miR-125b inhibited cellular growth, suppressed cellular migration and caused an accumulation of cells in the G1 phase of the cell cycle, Luciferase assays revealed that miR-125b directly targeted the 3'UTR of SphK1. Overexpression of miR-125b led to the downregulation of SphK1 and protein level as assessed by qRT-PCR and Western blot. Targeted knockdown of SphK1 by siRNA significantly inhibited the proliferation of T24 bladder cancer cells. CONCLUSIONS: These findings suggest that miR-125b may act as a tumor suppressor gene in bladder cancer and that, in the future, targeting of this miRNA may provide a novel strategy for the diagnosis and treatment of patients with this lethal disease.

MiRNA-29c regulates cell growth and invasion by targeting CDK6 in bladder cancer.

BACKGROUND: MicroRNAs are a class of endogenous single strand non-coding RNAs that are involved in many important physiological and pathological processes. The purpose of this study was to investigate the expression levels of miR-29c in human bladder cancer and its potential role in disease pathogenesis. METHODS: The expression level of miR-29c was measured in 40 bladder cancer specimens and adjacent normal breast tissues by quantitative polymerase chain reaction (qPCR). Over-expression of miR-29c was established by transfecting mimics into T24.MTT assays, colony formation assays, transwell assays and cell cycle assays were used to explore the potential function of miR-29c inT24 bladder cancer cells. Luciferase reporter assays were performed to analyze the regulation of putative target of miR-29c. The effects of modulating miR-29c on endogenous levels of this target were subsequently confirmed via qRT-PCR and Western blot. RESULTS: The expression of miR-29c in bladder cancer specimens was lower than adjacent normal tissues (P<0.01). Overexpression of miR-29c inhibited cellular growth, suppressed cellular migration and caused an accumulation of cells in the G1 phase of the cell cycle, Dual-luciferase reporter assays showed that miR-29c binds the 3'-untranslated region (3'-UTR) of CDK6, suggesting that CDK6 is a direct target of miR-29c. Furthermore, through qPCR and Western blot assays confirmed that overexpression of miR-29c reduced CDK6 mRNA and protein levels. CONCLUSIONS: miR-29c could inhibit the proliferation, migration and invasion of bladder cancer cells via regulating CDK6. in the future, it could be used as a therapeutic target for the treatment of bladder cancer.

Gene microarray analysis of the lncRNA expression profile in human urothelial carcinoma of the bladder.

OBJECTIVE: To analyze the expression profile variation of lncRNAs in normal urinary bladder tissue and urothelial carcinoma of the urinary bladder through microarray technology. The differentially expressed lncRNAs were identified and classified, and their biological information was analyzed. The data obtained in the study will prove helpful for the diagnosis, treatment, and prevention of urothelial carcinoma of the bladder. MATERIALS AND METHODS: Three specimens of urothelial carcinoma of the bladder and three specimens of normal bladder tissue were identified by histology. The total RNA was isolated from the bladder urothelial carcinomas and normal tissue and purified. The targets were mixed and hybridized with the genes on the microarray, which contained thirty thousand lncRNAs. The bladder urothelial carcinomas were then compared with the normal bladder tissue. The lncRNAs that were differentially expressed between the two groups were identified based on the signal-to-noise ratios using the Agilent Feature Extraction software and were analyzed with the Agilent Genespring GX software (Agilent). The outcome was obtained, and the biological information of these genes was deposited in GenBank. RESULTS: The expression profile of lncRNAs was significantly different between normal bladder tissue and urothelial carcinoma of the bladder. Compared with normal bladder tissue, 1,122 lncRNAs exhibited at least a twofold, significant difference (P < 0.05) and are thus regarded as differentially expressed lncRNAs. Of these, 734 and 388 lncRNAs were upregulated and down regulated. The differentially expressed lncRNAs in the urothelial carcinoma of the bladder are distributed on every chromosome, and most of these lncRNAs are distributed on chromosomes 1, 2, 3, 4, 6, and X. CONCLUSIONS: Urothelial carcinoma of the bladder is a complicated disease that involves the regulation of multiple genes and the participation of multiple chromosomes. Some of the differentially expressed lncRNAs that were upregulated, such as AK124776, lincRNA-RAB12-1, KRT8P25, RP11-474J18.4, AC000110.1, KRT8P13, KRT8P10, BC072678, and downregulated, such as nc-HOXB9-206, RP11-160A10.2, nc-HOXA11-86, nc-HOXD10-7, nc-HOXB9-205, CES4, nc-HOXD12-3, systematic research on these lncRNAs will help clarify the mechanisms of urothelial carcinoma of the bladder and guide the early diagnosis and treatment of this cancer in the future.

Evaluation of vesicular stomatitis virus mutant as an oncolytic agent against prostate cancer.

BACKGROUND: To date, limited options are available to treat malignant prostate cancer, and novel strategies need to be developed. Oncolytic viruses (OV) that have preferential replication capabilities in cancer cells rather than normal cells represent one promising alternative for treating malignant tumors. Vesicular stomatitis virus (VSV) is a non-segmented, negative-strand RNA virus with the inherent capability to selectively kill tumor cells. The aim of this study was to evaluate the potential of VSV-ΔM51-GFP as an effective therapeutic agent for treating prostate tumors. METHODS: For in vitro experiments, DU145 and PC3 cell lines were treated with VSV-ΔM51-GFP. Viral titers were quantified using plaque assays. Cytotoxicity was performed by MTT analysis. IFN-ß production was measured using a Human IFN-ß detection ELISA Kit. The detection of apoptosis was performed via Annexin-V-FITC staining method and analyzed with flow cytometry. The in vivo antitumor efficacy of VSV-ΔM51-GFP in a xenograft mice prostate tumor model. RESULTS: It was observed that VSV-ΔM51-GFP can efficiently replicate and lyse human prostate cancer cells and that this virus has reduced toxicity against normal human prostate epithelial cells in vitro. VSV-ΔM51-GFP in the induction of apoptosis in DU145 cells and PC3 cells. Furthermore, in a xenograft tumor animal model, nude mice bearing replication-competent VSV-ΔM51-GFP were able to eradicate malignant cells while leaving normal tissue relatively unaffected. The survival of the tumor-burdened animals treated with VSV-ΔM51-GFP may also be significantly prolonged compared to mock-infected animals. CONCLUSIONS: VSV-ΔM51-GFP showed promising oncolytic activity for treating prostate cancer.

Assessment of numerical chromosomal abnormalities of the sperms before and after radiotherapy in seminoma patient.

OBJECTIVE: To assess numerical sex chromosomal abnormalities of the sperms before and after radiotherapy in seminoma patients and to evaluate their reproduction risks. METHODS: Three color Fluorescence in situ hybridization (FISH) was performed on sperms harvested from one seminoma patient before and after radiotherapy and before surgery. The numerical sex chromosomal abnormalities were compared. RESULTS: The ratio of 18-X and 18-Y sperm cells among the counted 40944 ones was close to 1:1 at three time points. The incidence of chromosome aneuploidy and diploid rate (18, X, Y) significantly increased after radiotherapy when compared with that before surgery and before radiotherapy. However, no significance was observed in the aneuploid and diploid rate between pre-operation group and pre-radiotherapy (post-operation) group except for the 18-YY karyotype (0.095% vs 0.026%, p<0.05). CONCLUSION: Our study shows increased incidence of numerical sex chromosomal abnormalities and high risk for reproductive and genetic diseases in patients treated with radiotherapy. Three colored FISH test is recommended to evaluate the rate of numerical chromosomal abnormalities; PGD and prenatal diagnosis are advised to improve the likelihood of a successful pregnancy.