The diagnostic value of multimodal imaging based on MR combined with ultrasound in benign and malignant breast diseases.

We aimed to construct and validate a multimodality MRI combined with ultrasound based on radiomics for the evaluation of benign and malignant breast diseases. The preoperative enhanced MRI and ultrasound images of 131 patients with breast diseases confirmed by pathology in Aerospace Center Hospital from January 2021 to August 2023 were retrospectively analyzed, including 73 benign diseases and 58 malignant diseases. Ultrasound and 3.0 T multiparameter MRI scans were performed in all patients. Then, all the data were divided into training set and validation set in a 7:3 ratio. Regions of interest were drawn layer by layer based on ultrasound and MR enhanced sequences to extract radiomics features. The optimal radiomic features were selected by the best feature screening method. Logistic Regression classifier was used to establish models according to the best features, including ultrasound model, MRI model, ultrasound combined with MRI model. The model efficacy was evaluated by the area under the curve (AUC) of the receiver operating characteristic, sensitivity, specificity, and accuracy. The F-test based on ANOVA was used to screen out 20 best ultrasonic features, 11 best MR Features, and 14 best features from the combined model. Among them, texture features accounted for the largest proportion, accounting for 79%.The ultrasound combined with MR Image fusion model based on logistic regression classifier had the best diagnostic performance. The AUC of the training group and the validation group were 0.92 and 091, the sensitivity was 0.80 and 0.67, the specificity was 0.90 and 0.94, and the accuracy was 0.84 and 0.79, respectively. It was better than the simple ultrasound model (AUC of validation set was 0.82) or the simple MR model (AUC of validation set was 0.85). Compared with the traditional ultrasound or magnetic resonance diagnosis of breast diseases, the multimodal model of MRI combined with ultrasound based on radiomics can more accurately predict the benign and malignant breast diseases, thus providing a better basis for clinical diagnosis and treatment.

The value of multiparametric MRI radiomics in predicting IDH genotype in glioma before surgery.

Objective: To explore the value of multiparametric magnetic resonance imaging(MRI) radiomics in the preoperative prediction of isocitrate dehydrogenase (IDH) genotype for gliomas. Methods: The preoperative routine MRI sequences of 114 patients with pathologically confirmed grade II-IV gliomas were retrospectively analysed. All patients were randomly divided into training cohort(n=79) and validation cohort(n=35) in the ratio of 7:3. After feature extraction, we eliminated covariance by calculating the linear correlation coefficients between features, and then identified the best features using the F-test. The Logistic regression was used to build the radiomics model and the clinical model, and to build the combined model. Assessment of these models by subject operating characteristic (ROC) curves, area under the curve (AUC), sensitivity and specificity. Results: The multiparametric radiomics model was built by eight selected radiomics features and yielded AUC values of 0.974 and 0.872 in the training and validation cohorts, which outperformed the conventional models. After incorporating the clinical model, the combined model outperformed the radiomics model, with AUCs of 0.963 and 0.892 for the training and validation cohorts. Conclusion: Radiomic models based on multiparametric MRI sequences could help to predict glioma IDH genotype before surgery.

A case report of anterior mediastinal angiomyolipoma that invaded the left thoracic cavity.

RATIONALE: Angiomyolipoma is a mesenchymal tumor composed of blood vessels, smooth muscle, and mature adipose tissue. It is most commonly found in the kidney, and is rare outside the kidney, especially in the mediastinum. Only about 12 cases have been reported worldwide so far. PATIENT CONCERNS: We report a young female patient who had been found with a left thoracic mass for 19 years. In the past 19 years, the patient had no chest pain, dyspnea and other symptoms, but this time she visited the doctor because of cough, and there were no other clinical signs. DIAGNOSES: The patient underwent computed tomography plain scan and enhanced scan after admission with imaging manifestations of a mixed density mass in the left chest cavity, calcification and fat density in the inside, and tortuous blood vessels after enhancement. Combined with imaging, the diagnosis was teratoma, not excluding hamartoma. INTERVENTIONS: The patient underwent a central open thoracic giant mass resection. OUTCOMES: The postoperative pathology confirmed that it was angiomyolipoma originating from anterior mediastinum invasion of the left chest cavity, and no clear recurrence was seen after 1 year of postoperative follow-up. LESSONS: Angiomyolipomas in the mediastinum are rare, especially those that invade the thorax. This article describes the clinical, imaging and pathological features of the patient in detail, which improves the understanding of the disease of clinical and imaging doctors, and provides a basis for the differential diagnosis of mediastinal lesions.

Pleomorphic adenoma of the tongue: A case report.

RATIONALE: Salivary gland tumors account for approximately 3% of all tumors, most of which are benign, with pleomorphic adenomas being the most common, occurring mostly in middle-aged women, mostly originating from the major salivary glands and, to a lesser extent, from the minor salivary glands, with the tongue being a very rare site of occurrence. To date, case reports of pleomorphic adenoma at the root of the tongue are also rare. PATIENT CONCERNS: A 56-year-old male patient with no obvious cause of foreign body sensation in the pharynx, sputum, no pain, no blood in the sputum, no dysphagia, and no difficulty in swallowing and breathing, which was significantly aggravated in the past 2 weeks, with difficulty in swallowing, breath-holding on lying down. DIAGNOSES: computed tomography and magnetic resonance imaging revealed a soft tissue mass at the root of the left tongue, which involved the tongue body in the forward direction. Electronic laryngopharyngoscopy showed a left-sided tongue root mass with a poorly smooth mucosa, covered with a mucous white pseudomembrane and a localized brownish-black crust without active bleeding. The final pathological findings showed a pleomorphic adenoma. INTERVENTIONS: Postoperative symptomatic treatment was given, and the patient recovered well. Eight days after surgery, the patient was discharged from the hospital, and the pharyngeal pain basically subsided at the time of discharge, with no fever and no pharyngeal discomfort. Postoperative laryngoscopy showed smooth mucosa of the pharyngeal cavity, good pseudomembrane formation in the operated area, no active bleeding, no purulent secretions, and normal blood routine on recheck. The medical advice after discharge was firstly, full rest for 1 week, secondly, continue the oral anti-inflammatory treatment, 1 week after the operation need to review the outpatient clinic, finally, if there are any uncomfortable symptoms, seek medical attention in time. OUTCOMES: At present, the patient has been followed up for half a year and has recovered well from the operation without any discomfort. LESSONS: It is very rare to find a pleomorphic adenoma of the tongue, and it occurs mostly in middle-aged women. In clinical diagnosis, it is sometimes difficult to distinguish it from malignant tumor of the tongue.

Value of DWI Combined with Magnetic Resonance Spectroscopy in the Differential Diagnosis between Recurrent Glioma and Radiation Injury: A Meta-Analysis.

To analyse the value of the apparent diffusion coefficient (ADC) in diffusion-weighted imaging (DWI) and the choline (Cho)/creatine (Cr) ratio and Cho/N-acetyl-aspartate (NAA) ratio in magnetic resonance spectroscopy (MRS) in the differential diagnosis between recurrent glioma and radiation injury. Chinese and English studies related to the diagnosis of recurrent glioma and radiation injury using DWI and MRS and published before 15 October 2022 were retrieved from PubMed, Embase, the Cochrane Library, China National Knowledge Infrastructure, China Biomedical Literature Database, VIP Journal Database, and Wanfang Database for a meta-analysis. A total of 11 articles were included in this study. ADC was lower in the recurrent glioma group than in the radiation injury group (standardized mean difference = -1.29, 95% confidence interval (CI) (-1.87, -0.71), P < 0.001). The Cho/Cr ratio was higher in the recurrent glioma group than in the radiation injury group (weighted mean difference = 0.65, 95% CI (0.40, 0.90), and P < 0.001). The Cho/NAA ratio was higher in the recurrent glioma group than in the radiation injury group, as evidenced by the sensitivity analysis. The sensitivity and specificity of the Cho/Cr ratio were 0.85 (0.73-0.92) and 0.82 (0.67-0.91), respectively, and the area under the curve was 0.86. The sensitivity and specificity of the Cho/NAA ratio were 0.82 (0.66-0.91) and 0.94 (0.69-0.99), respectively, and the area under the curve was 0.93. This meta-analysis showed that ADC, Cho/Cr, and Cho/NAA ratios all had high sensitivity and specificity. Therefore, DWI combined with MRS can effectively improve the diagnosis of recurrent glioma and radiation injury.

An alternative splicing signature in human Crohn's disease.

BACKGROUND: Although hundreds of risk loci for Crohn's disease (CD) have been identified, the underlying pathogenesis of CD remains unclear. Recently, evidence has shown that aberrant gene expression in colon tissues of CD patients is associated with the progression of CD. We reasoned that post-transcriptional regulation, especially alternative splicing (AS), may also play important roles in the pathogenesis of CD. METHODS: We re-analyzed public mRNA-seq data from the NCBI GEO dataset (GSE66207) and identified approximately 3000 unique AS events in CD patients compared to healthy controls. RESULTS: "Lysine degradation" and "Sphingolipid metabolism" were the two most enriched AS events in CD patients. In a validation study, we also sequenced eight subjects and demonstrated that key genes that were previously linked to CD, such as IRF1 and STAT3, also had significant AS events in CD. CONCLUSION: Our study provided a landscape of AS events in CD, especially as the first study focused on a Chinese cohort. Our data suggest that dysregulation of AS may be a new mechanism that contributes to the pathogenesis of CD.

Magnetic resonance elastography in staging liver fibrosis in non-alcoholic fatty liver disease: a pooled analysis of the diagnostic accuracy.

BACKGROUND: This study was performed to systematically evaluate the accuracy of magnetic resonance elastography (MRE) in staging of liver fibrosis in non-alcoholic fatty liver disease (NAFLD). METHODS: PUBMED, EMBASE, Web of Science, CNKI, Cochrane Library database were searched from January 2008 to December 2018 for studies related to MRE in the diagnosis of NAFLD liver fibrosis. The quality of the included literature was assessed by Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool. The pooled sensitivity, the pooled specificity, and area under the receiver operating characteristic curve (AUROC) value was performed by STATA 14.0 software. RESULTS: A total of 12 studies were included, involving 910 patients. The pooled sensitivity and specificity of each group were 0.77 (95%CI 0.69-0.83) and 0.90 (95%CI 0.83-0.94) for F ≥ 1 (mild liver fibrosis), 0.87 (95%CI 0.74-0.94) and 0.86 (95%CI 0.71-0.94) for F ≥ 2 (significant liver fibrosis), 0.89 (95%CI 0.81-0.94) and 0.84 (95%CI 0.63-0.94) for F ≥ 3(severe liver fibrosis), 0.94 (95%CI 0.85-0.98) and 0.75 (95%CI 0.35-0.94) for F ≥ 4 (early cirrhosis), respectively. The area under the summary receiver operating characteristic (SROC) curve was 0.89, 0.93, 0.93, and 0.95, respectively. CONCLUSIONS: MRE has high accuracy in the diagnosis of hepatic fibrosis staging in patients with NAFLD.

The association of serum vitamin D-binding protein and 25-hydroxyvitamin D in pre-operative and post-operative colorectal cancer.

BACKGROUND: The association between vitamin D-binding protein (VDBP) and 25-hydroxyvitamin D (25 (OH)D) with colorectal cancer (CRC) is still ambiguous. This study was to further investigate the relationship between serum VDBP, 25 (OH)D levels and the clinical and pathological features of patients with CRC. METHODS: Enzyme-linked immunosorbent assay (ELISA) and chemiluminescence immunoassay were used to analyze the VDBP and 25(OH)D concentrations in serum. Pearson's correlation analysis was applied to evaluate the association between serum VDBP and 25(OH)D levels in CRC. Conditional logistic regression was performed to analyze the prediction value of serum VDBP or 25(OH)D as a risk factor for CRC. RESULTS: The serological levels of 25(OH)D in patients were significantly lower than in healthy individuals, while VDBP levels were significantly higher than in healthy controls. The serum VDBP in pre-operative was significantly lower than in post-operative samples, while the serum 25(OH)D from pre-operative patients was significantly higher than post-operative patients. Patients with tumors with higher stage and increased lymph node involvement had lower serum post-operative VDBP levels. In addition, our results showed that the pre-operative VDBP level is a risk factor of CRC. CONCLUSIONS: The levels of serum 25(OH)D and VDBP were both associated with CRC. Thus, serum 25(OH)D and VDBP levels might be of value in evaluating the pathogenesis and risk of CRC in the future. Moreover, serum VDBP or 25(OH)D levels were associated with patient's clinical and pathological features providing data for risk and prognostic prediction.

Discovery of Aberrant Alteration of Genome in Colorectal Cancer by Exome Sequencing.

BACKGROUND: This study analyzed multiple parameters including somatic single nucleotide variations (SNVs), Insertion/Deletions, significantly mutated genes (SMGs), copy number variations and frequently altered pathways aims to discover novel aberrances in the tumorigenesis of colorectal cancer (CRC). MATERIALS AND METHODS: Exome sequencing was performed on an Illumina platform to identify novel potential somatic variances in 34 paired tumor and adjacent normal tissues from 17 CRC patients. Results were compared with databases (dbSNP138, 1000 genomes SNP, Hapmap, Catalogue of Somatic Mutation of Cancer and ESP6500) and analyzed. MuSic software was used to identify SMGs. RESULTS: In total, 1,637 somatic SNVs in 17 analyzed tumors were identified. Only 7 SNVs were shared by more than 1 tumor, suggesting that over 99% of the analyzed SNVs were independent events. Mutation of KRAS p. G12D and ZNF717 p. L39V were the most common SNVs. Moreover, 10 SMGs namely KRAS, TP53, SMAD4, ZNF717, FBXW7, APC, ZNF493, CDR1, the Armadillo repeat containing 4 (ARMC4) and sulfate-modifying factor 2 (SUMF2) were found. Among those, ZNF717, ZNF493, CDR1, ARMC4 and SUMF2 were novel frequent genes in CRC. For copy number variations analysis, gains in 10q25.3, 1p31.1, 1q44, 10q23.33, 11p15.4 and 20q13.33, and loss of 3q21.3 and 3q29 were frequent aberrations identified in our results. CONCLUSIONS: We frequently found novel genes ZNF717, ZNF493, CDR1, ARMC4 and SUMF2 and gains in 10q25.3, which may be functional mutation in CRC. The high-frequency private events such as SNVs confirm the highly heterogeneous mutations found in CRCs. The mutated genes sites in different patients may vary significantly, which may also be more challenging for clinical treatment.

Glucose Drives Growth Factor-Independent Esophageal Cancer Proliferation via Phosphohistidine-Focal Adhesion Kinase Signaling.

BACKGROUND & AIMS: Most targeted therapies against cancer are designed to block growth factor-stimulated oncogenic growth. However, response rates are low, and resistance to therapy is high. One mechanism might relate to the ability of tumor cells to induce growth factor-independent proliferation (GFIP). This project aims to understand how (1) cancer cells preferentially derive a major growth advantage by using critical metabolic products of glucose, such as phosphoenolpyruvate (PEP), to drive proliferation and (2) esophageal squamous cell carcinoma (ESCC) cells, but not esophageal adenocarcinoma cells, can induce GFIP by using glycolysis to activate phosphohistidine (poHis)-mediated signaling through focal adhesion kinase (FAK). METHODS: The hypothesis to be tested is that ESCC GFIP induced by glucose is facilitated by PEP-mediated histidine phosphorylation (poHis) of FAK, leading to the possibility that ESCC progression can be targeted by blocking poHis signaling. Biochemical, molecular biological, and in vivo experiments including bromodeoxyuridine/5-ethynyl-2'-deoxyuridine labeling, radioisotope tracing, CRISPR gene editing, and analysis of signaling gene sets in human cancer tissues and xenograft models were performed to define the mechanisms underlying ESCC GFIP. RESULTS: Glucose promotes growth factor-independent DNA replication and accumulation of PEP in ESCC cells. PEP is the direct phospho-donor to poHis58-FAK within a known "HG" motif for histidine phosphorylation. Glucose-induced poHis58 promotes growth factor-independent FAK-mediated proliferation. Furthermore, glucose activates phosphatidylinositol-3'-kinase/AKT via poHis58-FAK signaling. Non-phosphorylatable His58A-FAK reduces xenograft growth. CONCLUSIONS: Glucose induces ESCC, but not esophageal adenocarcinoma GFIP via PEP-His58-FAK-AKT signaling. ESCC progression is controlled by actionable growth factor-independent, glucose-induced pathways that regulate proliferation through novel histidine phosphorylation of FAK.

Differential cellular localization of CELSR2 and ING4 and correlations with hormone receptor status in breast cancer.

CELSR2 is postulated to be a receptor involved in contact-mediated communication; however, its expression and function in cancer remain unknown. ING4 is a tumor suppresor encoded by the ING4 gene which inhibits cell growth. The expression of CELSR2 and ING4 in breast tumors and in benign epithelial cells have been analyzed and correlated with HER2, ER, and PR status. Immunohistochemistry was used to analyze the expression of CELSR2 and ING4 protein in breast tumors and benign epithelial cells. The differential cellular localization of both markers was analyzed and results were also correlated with HER2, ER, and PR status. CELSR2 and ING4 cytoplasmic expression was significantly stronger in tumors than in benign epithelial cells, while the nuclear expression of both markers was significantly stronger in benign epithelial cells than in tumors. When comparing the two markers in the same type of tissues, the nuclear expression of CELSR2 was significantly stronger than cytoplasmic in benign epithelial cells, while there was no significant difference in the cellular localization of CELSR2 in tumors. For ING4, the cytoplasmic expression was significantly stronger than nuclear expression in tumors, while in benign epithelial cells, ING4 was expressed at similar levels in both compartments. There was no correlation between CELSR2 expression and HER2, ER, and PR status in tumors. However, the cytoplasmic expression of ING4 was associated with HER2 positivity in tumors. Both CELSR2 and ING4 display increased cytoplasmic staining in breast cancer cells compared to benign epithelium, suggesting a possible role of both genes in the pathogenesis of human mammary neoplasia.