Desmoid fibromatosis in the pharyngeal wall: A case report and literature review

Desmoid fibromatosis (DF) is one of the rarest locally aggressive growing benign tumor entities. We present an overview of the literature and a rare clinical case of a 22‐year‐old female patient, who was diagnosed with aggressive DF in the left pharyngeal wall at the age of 4 years old.     

Prostate cancer dural metastasis resembling a meningioma

CT images of a 56‐year‐old man with headache showed a meningioma‐like mass in the occipital region. The tumor was well‐defined and non‐uniform with bone thickening and no internal calcification. Eventually, he was diagnosed on the basis of histopathology and immunostaining findings as having a dural metastasis from a prostate cancer.     

A case of diffuse leptomeningeal glioneuronal tumor in a 10‐year‐old boy: First report from Iran

A 10‐year‐old boy who was referred due to acute hydrocephalus symptoms was diagnosed as the first case of pediatric DLGNT in Iran. The results suggested that using shunting for hydrocephaly and anti‐seizure medicines, as well as chemotherapeutic agents, can be an effective treatment strategy for DLGNT. Although the patient was stable without a tumor recurrence for a limited follow‐up period of 22 months, further studies are expected.     

Tumor necrosis factor alpha—an underestimated risk predictor in patients undergoing transcatheter aortic valve replacement (TAVR)?

BackgroundSystemic inflammation has been identified as a major cardiovascular risk factor in patients undergoing transcatheter aortic valve replacement (TAVR), yet currently, it is not adequately portrayed in scores for pre‐interventional risk assessment. The aim of this study was to investigate the predictive ability of TNF‐α in TAVR.MethodsA total of 431 patients undergoing transfemoral TAVR were enrolled in this study. Blood samples were drawn prior to intervention, 24 h post‐intervention, 4, 5, and 7 days post‐intervention, and 1, 3, and 6 months post‐TAVR.ResultsIn a univariate Cox proportional hazard analysis, plasma concentrations of TNF‐α after 24 h and after 5 days were associated with mortality after 12 months (after 24 h: HR 1.002 (1.000–1.004), p = 0.028; after 5d: HR 1.003 (1.001–1.005), p = 0.013). This association remained significant even after correction for confounders in a multivariate Cox regression analysis. Additionally, cut‐offs were calculated. Patients above the cut‐off for TNF‐α after 5d had a significantly worse 12‐month mortality than patients below the cut‐off (18.8% vs. 2.8%, p = 0.046).ConclusionPlasma levels of TNF‐α after 24 h and 5 days were independently associated with 12‐month mortality in patients undergoing TAVR. Thus, TNF‐α could represent a novel biomarker for enhanced risk stratification in these patients.     

Novel immune‐related signature based on immune cells for predicting prognosis and immunotherapy response in clear cell renal cell carcinoma

BackgroundClear cell renal cell carcinoma (ccRCC) is the most common malignant tumor of the kidney and is characterized by poor prognosis. We sought to build an immune‐related prognostic signature and investigate its relationship with immunotherapy response in ccRCC.MethodsImmune‐related genes were identified by ssGSEA and WGCNA. The prognostic signature was conducted via univariate, least absolute shrinkage and selection operator, and multivariable Cox regression analyses. Kaplan‐Meier analysis, PCA, t‐SNE, and ROC were used to evaluate the risk model.ResultsA total of 119 immune‐related genes associated with prognosis were screened out. Six immune‐related genes (CSF1, CD5L, AIM2, TIMP3, IRF6, and HHLA2) were applied to construct a prognostic signature for KIRC. Kaplan–Meier analysis showed that patients in high‐risk group had a poorer survival outcome than in low‐risk group. The 1‐, 3‐ and 5‐year AUC of the prognostic signature was 0.754, 0.715, and 0.739, respectively. Univariate and multivariate Cox regression models demonstrated that the risk signature was an independent prognostic factor for KIRC survival. GSEA analysis suggested that the high‐risk group was concentrated on immune‐related pathways. The high‐risk group with more regulatory T‐cell infiltration showed a higher expression of immune negative regulation genes. The risk score had positively relationship with TIDE score and negatively with the response of immunotherapy. The IC50 values of axitinib, sunitinib, sorafenib, and temsirolimus were lower in the high‐risk group.ConclusionOur study defined a robust signature that may be promising for predicting clinical outcomes and immunotherapy and targeted therapy response in ccRCC patients.     

Tenosynovial giant cell tumor of the posterior pharyngeal space

A 55‐year‐old man presented with dysphagia and a sore throat. Oral examination revealed a firm nodular mass in the midline of the pharyngeal wall. The tumor was en‐bloc excised. Histopathology and immunohistochemistry confirmed the diagnosis of a tenosynovial giant cell tumor.     

Diagnostic value of conventional tumor markers in young patients with pulmonary nodules

BackgroundLung cancer is one of the most common malignancies, and there is a trend of increasing incidence in young patients. The preoperative diagnosis of pulmonary nodules is mainly based on the combination of imaging and tumor markers. There is no relevant report on the diagnostic value of tumor markers in young pulmonary nodules. Our study was designed to explore the value of five tumor markers in young patients with pulmonary nodules.MethodsWe reviewed the medical records of 390 young patients (age ≤45 years) with pulmonary nodules treated at two separate centers from January 1, 2015, to January 1, 2021. Malignant pulmonary nodules were confirmed in 318 patients, and the other 72 patients were diagnosed with benign pulmonary nodules. The gold standard for diagnosis of pulmonary nodules was surgical biopsy. The conventional serum biomarkers included cytokeratin 19 (CYFRA21‐1), pro‐gastrin‐releasing‐peptide (ProGRP), carcinoembryonic antigen (CEA), neuron‐specific enolase (NSE), and squamous cell carcinoma‐associated antigen (SCCA). The diagnostic values of five tumor markers were analyzed by receiver operating characteristic (ROC) curves.ResultsThere were no significant differences in the expression of five tumor markers between the groups (p > 0.05). Single tumor marker (CYFRA21‐1, ProGRP, CEA, NSE, and SCCA) showed a limited value in the diagnosis of malignant pulmonary nodules, with the AUC of 0.506, 0.503 0.532, 0.548, and 0.562, respectively. The AUC of the combined examination was only 0.502~0.596, which did not improve the diagnostic value.ConclusionsFive conventional tumor markers had a limited diagnostic value in young patients with pulmonary nodules.     

Effect of the Soluble TNF‐Antagonist Etanercept on Tumor Necrosis Factor Bioactivity and Stability

Background: Targeted anti‐tumor necrosis factor (TNF) strategies in patients with rheumatoid arthritis have resulted in new and/or worsening heart failure in individuals who were free of cardiovascular disease. Methods and Results: To determine the mechanism of new and/or worsening heart failure in patients who were receiving the soluble TNF‐antagonist etanercept, we analyzed frozen plasma samples from a previous clinical trial with etanercept in heart failure patients, and conducted complimentary mechanistic in vitro studies. Analysis of the clinical trial data showed that use of etanercept resulted in a significant 70‐fold increase in the level of immunoreactive TNF. Complimentary in vitro studies using an L929 bioassay showed that at low concentrations of etanercept relative to TNF there was an unexpected 1.5‐ to 1.75‐fold increase in the absolute level of TNF bioactivity. We also examined the effect of etanercept on TNF stability and the results showed that there was a two‐fold increase in the mass of bioactive homotrimeric TNF when the molar ratio of TNF to etanercept was approximately 200:1. Conclusion: Etanercept increases the immunoreactive mass of TNF in heart failure patients, as well as augments TNF cytotoxicity in certain settings, thus suggesting one potential mechanism for the worsening heart failure in some patients who were receiving this agent.     

Pulmonary inflammatory myofibroblastic tumor in a male child: A case report

Pulmonary inflammatory myofibroblastic tumor (IMT) is a rare condition in the normal population and specifically in the pediatric population. We reported a 9‐year‐old male child who presented with cough and intermittent fever and weight loss that was most suggestive of the infectious process. We reviewed the consideration of diagnosis and treatment.     

Screening of tumor grade‐related mRNAs and lncRNAs for Esophagus Squamous Cell Carcinoma

BackgroundThe goal of our study was to screen tumor grade‐related lncRNAs and mRNAs to reveal the underlying molecular mechanism of esophagus squamous cell carcinoma (ESCC).MethodsThe lncRNA and mRNA sequencing data were obtained from The Cancer Genome Atlas (TCGA). Tumor grade correlation analysis of lncRNAs and mRNAs was executed, followed by the functional enrichment analysis of all tumor grade‐related mRNAs. The differentially expression mRNAs (DEmRNAs) and differentially expressed lncRNAs (DElncRNAs) were obtained. PPI network and DEmRNA‐DElncRNA interaction analysis were constructed. The functional annotation of the DEmRNAs co‐expressed with DElncRNAs was performed. The expression levels of the candidate genes were validated using qRT‐PCR.ResultsA total of 1864 tumor grade‐related mRNAs (846 positively related and 1018 negatively related) and 552 tumor grade‐related lncRNAs (331 positively related and 221 negatively related) were obtained. The top 10 significantly grade‐related mRNAs and lncRNAs included CA12, FABP4, DECR1, BAIAP2, IL1RAPL2, PPARD, LAD1, TSPAN10, LDOC1, ZNF853, RP11‐25G10.2, RP11‐557H15.3, RP11‐521D12.5, CHKB‐AS1, RP11‐219B4.3, CH17‐335B8.4, RP11‐99 J16‐A.2, CTB‐111H14.1, ADNP‐AS1, and JHDM1D‐AS1. SFN, IL1RAPL2, and RP11‐25G10.2 were overlapped from grade 1, grade 2, and grade 3. PPI network showed that top 10 proteins with higher degrees, including GNAI1, RAP2B, GNAZ, SHH, ADCY1, PRKAR2B, SH3GL1, GNA15, and ARRB1. A DElncRNAs‐nearby DEmRNAs network was constructed to obtain hub lncRNAs including ADAMTS9‐AS2, RP11‐210 M15.2, RP11‐13 K12.1, ZBED3‐AS1, and RP11‐25G10.2. Except for RP11‐25G10.2, ADAMTS9‐AS1, ZBED3‐AS1, SFN, ATP1A2, and GNA15 were consistent with our TCGA analysis.ConclusionsAlterations of DEmRNAs and DElncRNAs may provide key insights into the molecular mechanisms of ESCC.     

Liquid nitrogen for cryotherapy treatment for osteosarcoma of the middle femur: A case report

BackgroundOsteosarcoma is the most common primary malignant bone tumor in children and adolescents. Cryotherapy liquid nitrogen has been used an adjuvant treatment for tumors for some decades.Case presentationA 23‐year‐old male patient was admitted to our hospital, mainly due to progressive pain in his left thigh, and confirmed osteosarcoma by local biopsy. A total length of 28 cm tumor bone was completely resected at the region of above and below lesion 3 cm under the guidance of MRI. After removed part of the tumor tissue, tumor bone was dealt with liquid nitrogen for 20 minutes. Finally, the bone was fixed with intramedullary needles for reconstruction. Three months after surgery, the X‐ray examination showed poor bone growth at both distal sides of osteotomy and disuse degeneration of knee joint. The patient was performed an incision on the lateral side of the distal left thigh to secure the locking plate, and followed up every 3 months. Two years after operation, there was no sign of local recurrence.ConclusionLiquid nitrogen for cryotherapy may be a feasible local therapy for large lesion of osteosarcoma in middle femur.     

Ovarian thecoma presenting with acute ovarian torsion in pregnancy; report of a rare case

Thecoma is a commonly benign ovarian tumor of the group “Sex cord‐stromal neoplasms.” This group represents <5 percent of ovarian tumors. Thecoma is extremely rare in pregnancy. Here, we describe a 17‐week pregnant woman presenting with acute ovarian pedicle torsion as a result of an ovarian thecoma.     

Primary mucinous adenocarcinoma of the orbit: A rare clinical entity

Primary mucinous adenocarcinoma is an exceptionally rare neoplasm with a propensity for local recurrence and metastasis. We report the second case in the world literature of a primary mucinous adenocarcinoma of the orbit in a 66‐year‐old man suffering from pain, progressive protrusion of left eye, and a deep drop in vision on the left for several weeks. His first external examination revealed significant proptosis with downward displacement of the left globe with no signs of lagophthalmos. A limitation of abduction was also noted. A CT of the orbit with and without contrast showed intra‐ and extra‐conical solid expansive process. MRI of the orbit with contrast and without contrast has shown a process of the supero‐internal angle of the left orbit. The patient was operated via a combined approach, and complete enucleation was done. The final pathologic diagnosis was mucinous adenocarcinoma of the orbit. The postoperative neuroimaging showed a complete resection of the tumor. The patient is referred for adjuvant radiotherapy. A CT of the orbit was made 3 months postoperatively and did not show any local recurrence.     

N‐6 methylation‐related lncRNA is potential signature in lung adenocarcinoma and influences tumor microenvironment

BackgroundN‐6 methylation (m6A) pushes forward an immense influence on the occurrence and development of lung adenocarcinoma (LUAD). However, the methylation on non‐coding RNA in LUAD, especially long non‐coding RNA (lncRNA), has not been received sufficient attention.MethodsSpearman correlation analysis was used to screen lncRNA correlated with m6A regulators expression from the Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) repositories, respectively. Then, the least absolute shrinkage and selection operator (LASSO) was applied to build a risk signature consisting m6A‐related lncRNA. Univariate and multivariate independent prognostic analysis were applied to evaluate the performance of signature in predicting patients'' survival. Next, we applied Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and gene set enrichment analysis (GSEA) to conduct pathway enrichment analysis of 3344 different expression genes (DEGs). Finally, we set up a competing endogenous RNAs (ceRNA) network to this lncRNA.ResultsA total of 85 common lncRNAs were selected to acquire the components related to prognosis. The final risk signature established by LASSO regression contained 11 lncRNAs: ARHGEF26‐AS1, COLCA1, CRNDE, DLGAP1‐AS2, FENDRR, LINC00968, TMPO‐AS1, TRG‐AS1, MGC32805, RPARP‐AS1, and TBX5‐AS1. M6A‐related lncRNA risk score could predict the prognostic of LUAD and was significantly associated with clinical pathological. And in the evaluation of lung adenocarcinoma tumor microenvironment (TME) by using ESTIMATE algorithm, we found a statistically significant correlation between risk score and stromal/immune cells.ConclusionM6A‐related lncRNA was a potential prognostic and therapy target for lung adenocarcinoma.     

Primary leiomyosarcoma of the middle ureter: A rare case report with literature review

Leiomyosarcoma is a rarely seen neoplasm of the ureter. Malignant tumors of smooth muscle of the ureter are extremely rare, and about 22 cases of leiomyosarcoma of ureter have been reported to date. A 57‐year‐old diabetic Pakistani man presented with a dull ache pain in the right flank. Past surgical history was three ureteroscopic surgeries for a ureteric stricture. Computed tomography showed a stricture with a peri‐ureteral soft tissue mass of 11 mm x 5 mm at the middle third of the ureter at the level of common iliac vessels. laparoscopic excision with safety margin and right ureterovesical reimplantation is performed. Diagnosis of leiomyosarcoma of the right ureter was made, and one iliac lymph node was excised and was positive for tumor by pathologic examination. Although leiomyosarcoma is rarely seen in urinary tract, it should be considered in the differential diagnosis of ureteral stricture disease and retroperitoneal tumors.     

Optimal whole blood dilution protocol for preprocessing samples prior to circulating tumor cell capture by size‐based isolation

BackgroundThis study compared whole blood dilution versus density gradient centrifugation for pre‐processing blood samples prior to circulating tumor cell (CTC) capture on the efficiency of CTC separation by size‐based isolation.Materials and methodsWhole blood from a healthy volunteer spiked with SKBR3 cells was used to optimize the whole blood dilution protocol for sample volume, dilution ratio, and paraformaldehyde (PFA) concentration. Whole blood from healthy volunteers spiked with SKBR3, A549, or PC3 cells, and whole blood from patients with advanced gastric, esophageal, or liver cancer, was used to compare pre‐processing by the optimal whole blood dilution protocol with density‐gradient centrifugation. All statistical evaluations were performed using Student t test of the Statistical Package for Social Sciences (SPSS version 17.0).ResultsIn blood samples from healthy volunteers, spiked SKBR3 cell recovery rates were highest in 5 ml of whole blood, diluted with 2.5 ml buffer, and fixed with 0.2% PFA, and spiked SKBR3, A549, and PC3 cell recovery rates from 5 ml whole blood were significantly greater when using the optimized whole blood dilution protocol (87.67% ± 1.76%, 79.50% ± 0.50% and 71.83% ± 1.04%, respectively) compared to density‐gradient centrifugation (46.83 ± 1.76%, 37.00 ± 1.50% and 41.00 ± 1.50%, respectively).     

Pulmonary artery transection for resection of a middle mediastinal paraganglioma

We report the case of a 65‐year‐old male patient who presented with chest pain and was found to have a mediastinal paraganglioma between the left atrium and main pulmonary artery. This is the first reported case of a mediastinal paraganglioma resection utilization transection of the main pulmonary artery.     

Genome‐wide association study of 7661 Chinese Han individuals and fine‐mapping major histocompatibility complex identifies HLA‐DRB1 as associated with IgA vasculitis

BackgroundImmunoglobulin‐A vasculitis (IgAV) is an immune‐related systemic vasculitis with an unclear etiology. Genetic predisposition is now considered to be closely associated with the development of the disease, and it is essential to reveal the relationship between them. To explore the role of heredity in the disease, we performed a genome‐wide association study (GWAS) of 496 IgAV cases and 7165 controls using an Illumina Infinium Global Screening Array chip.MethodsIn the first stage of analysis, a significant correlation between the major histocompatibility complex (MHC) and IgAV was observed. Subsequently, human leukocyte antigen (HLA) analysis was conducted using a new large‐scale Han‐MHC reference panel. Fine mapping of IgAV risk in the MHC region indicated that two amino acid positions, 120 and 11, of HLA‐DRB1 and three potential HLA alleles (HLA‐DRB1∗04, HLA‐DRB1∗16, and HLA‐DRB1∗16:02) were significantly associated.ResultsFurther stepwise conditional analysis demonstrated that 3 amino acid positions (120, 26, 96) of HLA‐DRB1 and 6 HLA‐DRB1 alleles (HLA‐DRB1*04, HLA‐DRB1*16, HLA‐DRB1*01, HLA‐DRB1*12:02, HLA‐DRB1*10, and HLA‐DRB1*15:02) were independent signals. Among them, the most significant signal was HLA‐DRB1 amino acid Ser120 (OR = 1.59, p = 3.19 × 10⁻⁸); no independent signal in the MHC region except for HLA‐DRB1 was found.ConclusionsOur study confirms that the pathogenesis of IgAV has a genetic component and that HLA‐DRB1 is strongly associated with susceptibility to IgAV.     

Establishing an 8‐gene immune prognostic model based on TP53 status for lung adenocarcinoma

BackgroundLung adenocarcinoma (LUAD) results in a majority of cancer burden worldwide. TP53 is the most commonly mutated in LUAD. This study aimed to reveal the relation between TP53 and tumor microenvironment (TME) for improving LUAD treatment.MethodsDifferentially expressed genes (DEGs) related to immunity were analyzed between TP53‐WT and TP53‐MUT groups. Least absolute shrinkage and selection operator (LASSO) Cox regression was applied to screen prognostic DEGs. Two independent datasets were included to evaluate the robustness of the prognostic model.ResultsAn 8‐gene prognostic model containing ANLN, CCNB1, DLGAP5, FAM83A, GJB2, NAPSA, SFTPB, and SLC2A1 was established based on DEGs. LUAD samples were classified into high‐ and low‐risk groups with differential overall survival in the two datasets. M0 macrophages, M1 macrophages, and activated memory CD4 T cells were more enriched in high‐risk group. Immune checkpoints of PDCD1, LAG3, and CD274 were also high‐expressed in high‐risk group.ConclusionThe study improved the understanding of the role of TP53 in the TME modulation. The 8‐gene model had robust performance to predict LUAD prognosis in clinical practice. In addition, the eight prognostic genes may also serve as potential targets for designing therapeutic drugs for LUAD patients.     

Collision lung tumor associating typical carcinoid tumor to sclerosing hemangioma

Collision tumors associating carcinoid tumor and sclerosing pneumocytoma have rarely been reported in the literature. The clinical presentation may be challenging especially in cases showing multiple and bilateral nodules. This case illustrates the association of both tumors diagnosed incidentally and illustrates a full spectrum of neuroendocrine lesions and sclerosing pneumocytoma. The authors present the case of a 52‐year‐old patient presenting an abdominal pain revealing a vesicular lithiasis and multiple pulmonary nodules. Radiologic follow‐up of the asymptomatic lung lesions revealed the stabilization of a left lobe lesion with a disappearance of the other lesions. A lobectomy with a mediastinal lymph node curettage was performed. The microscopic examination revealed both tumor components associating a typical carcinoid tumor to a sclerosing pneumocytoma in association to lesions of diffuse neuroendocrine hyperplasia present in the peri‐tumoral parenchyma. This case illustrates radiologic, gross, and microscopic features of a rare pulmonary tumor.