International journal of clinical and experimental pathology最新文献

Objective: Osteoarthritis (OA) is a non-inflammatory degenerative joint disease that mainly involves articular cartilage damage and involves the whole joint tissue. However, the relationship between CD14 and CSF1R and osteoarthritis remains unclear. The aim of this study was to explore the important role of CD14 and CSF1R in osteoarthritis and provide a new direction for its prevention and treatment.

Method: The osteoarthritis datasets GSE46750 and GSE82107 were downloaded from gene expression omnibus (GEO) database generated by GPL10558 and GPL570. R package limma was used to screen differentially expressed genes (DEDs). Weighted gene co-expression network analysis (WGCNA) was performed. The construction and analysis of a protein-protein interaction (PPI) network, functional enrichment analysis, gene set enrichment analysis (GSEA), and comparative toxicogenomics database (CTD) analysis were performed. TargetScan screened miRNAs that regulated central DEGs.

Results: 687 DEGs were identified. According to gene ontology (GO), they were mainly concentrated in inflammatory response, IL-17 signaling pathway, rheumatoid arthritis, exercise, and regulation of response to external stimuli. The enrichment items are similar to the GO Kyoto Encyclopedia of Gene and Genome (KEGG) enrichment items of DEGs. These were mainly concentrated in exercise, inflammatory response, defense response, collagen containing extracellular matrix, and receptor regulator activity. In an enrichment project of Metascape, GO had inflammatory response, SARS-CoV-2 signal pathway network map, PIDIL8CXCR1 pathway, regulation of bone remodeling and endochondral ossification. 20 core genes were obtained by PPI network construction and analysis. Gene expression heat map showed that core genes (C1QC, CSF1R, CD14, TYROBP, HLA-DRA, C1QB, FCER1G, S100A9, HCLS1, WAS, BTK, TREM1) were highly expressed in osteoarthritis synovial tissues and were low in normal synovial tissues. CTD analysis showed that twelve genes (C1QC, CSF1R, CD14, TYROBP, HLA-DRA, C1QB, FCER1G, S100A9, HCLS1, WAS, BTK, TREM1) were found to be associated with inflammation, necrosis, gout, acute myeloid leukemia and thrombocytopenia.

Conclusion: CD14 and CSF1R are highly expressed in osteoarthritis and may be therapeutic targets for osteoarthritis.

A 60-year-old Chinese female patient was admitted to the hospital with complaint of intermittent fever for more than seven months. The main clinical manifestations were acute kidney injury and nephrotic syndrome which developed into a hemophagocytic syndrome. The symptoms did not improve with antibiotics. Moreover, prednisone could only reduce the fever. Finally, a kidney biopsy showed many CD20-positive cells in the glomerulus and some in the peritubular capillaries. This led to a diagnosis of renal intravascular large B-cell lymphoma.

Myelofibrosis is a myeloproliferative tumor, that can be secondary to malignant hematologic or inflammatory diseases, such as chronic myeloid leukemia, polycythemia vera, primary thrombocythemia, multiple myeloma, disseminated tuberculosis, or vasculitis. However, few cases of brucellosis-associated myelofibrosis have been reported. Moreover, due to the rarity of this phenomenon, it is often overlooked by clinicians, resulting in misdiagnosis and mismanagement. Thus, brucellosis should be considered as a possible cause of myelofibrosis. In the present study, we report five cases of brucellosis, of which three had myelofibrosis. In addition, to further determine the potential link between brucellosis and myelofibrosis, we retrospectively analyzed the levels of various cytokines by collecting the clinicopathologic data of patients and using immunohistochemical staining. We found that brucellosis patients with myelofibrosis had elevated levels of cytokines such as interferon (IFN)-γ, interleukin (IL)-1β, basic fibroblast growth factor (b-FGF), vascular endothelial growth factor (VEGF), suggesting that the regulation of cytokines may play a central role in the development of myelofibrosis in patients with brucellosis.

Objectives: How chronic pelvic inflammatory disease (CPID), the most common cause of infertility, affects metabolic profiles of follicular fluid (FF) remains unknown. This study aimed to identify candidate biomarkers in FF of infertile women with CPID.

Method: FF samples were collected from infertile women with CPID (n = 8) and healthy controls (n = 8) at the time of oocyte retrieval. Untargeted metabolomic profiling of FF samples was conducted using the liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Results: A total of 240 differential metabolites (104 named biochemicals and 136 unnamed biochemicals) were screened out and identified. Among them, pregnane-3,3-diol, pc(p-18:1(11z)/18:3(6z,9z,12z)), and 1-octadecanoyl-2-(4z,7z,10z,13z,16z,19z-docosahexaenoyl)-sn-glycero-3-phosphoethanolamine were markedly down-regulated, while 17,21-dihydroxypregnenolone was significantly up-regulated in infertile women with CPID. Furthermore, KEGG biological pathway analysis revealed that these metabolites were especially enriched in steroid hormone biosynthesis, glyoxylate and dicarboxylate metabolism, glucagon signaling pathway, and the tricarboxylic acid (TCA) cycle.

Conclusion: FF of infertile women with CPID showed unique metabolic changes that may be involved in the pathogenesis of infertility and serve as new therapeutic targets or diagnostic biomarkers.

Occult primary non-small cell lung cancer (OP-NSCLC) is a relatively rare entity that brings difficulties in diagnosis and treatment. Accurate diagnosis depends on biopsy specimens. Often, repeated biopsies are required. Here we report a patient who underwent 3 rounds of biopsy of her cervical superficial enlarged lymph nodes to get a final diagnosis of occult metastatic lung cancer. There was no evidence of primary lesions in the lung. The patient was treated with targeted chemotherapy and survived 4 years. We emphasize the importance of repeated biopsies or resection biopsy for a definitive diagnosis. Though molecular technologies and imaging may identify a primary site, some cases have occult primaries. Adjunct examination methods such as immunohistochemistry and/or molecular methods are valuable for definite diagnosis and guiding treatment.

We present a case report of a pulmonary pleomorphic carcinoma that metastasized to the jejunum in an 80-year-old woman. The patient was admitted to the hospital with symptomatic anemia and melena that had been ongoing for several months. In 2021, non-small cell carcinoma was diagnosed by fine-needle aspiration. In 2022, a computed tomography (CT) scan revealed an enormous mass in the small bowel. The tumor was resected and showed pleomorphic neoplastic cells with giant and spindle cell morphology. These neoplastic cells were positive for thyroid transcription factor 1 (TTF1). Next-generation sequencing of the secondary tumor revealed 97% genomic similarities to the lung tumor and high expression of programmed cell death ligand 1 (PD-L1). The patient may benefit from immune checkpoint therapy.

Background: Actinomycosis is an actinomycete infection, a rare zoonotic disease characterized by chronic suppurative inflammation and granulomatous inflammation. When injury occurs to the mucosa where parasites are present, actinomycetes can invade the mucosa. Widespread use of intrauterine devices (IUDs) has increased the incidence rate of pelvic actinomycosis among women. The clinical manifestation of ovarian actinomycosis is mostly a solid or cystic ovarian mass, which can invade surrounding tissue and may be accompanied by elevated levels of the tumor marker cancer antigen 125 (CA125). Therefore, ovarian actinomycosis is easily misdiagnosed as a malignant ovarian tumor.

Case description: Three cases of ovarian actinomycosis diagnosed in the Department of Pathology of the West China Second University Hospital of Sichuan University from January 2020 to March 2022 were retrospectively analyzed. All 3 patients had a history of IUD implantation for more than 10 years. All patients presented with abdominal masses and abdominal pain. One patient had weight loss, and 2 patients had elevated tumor marker CA125. Imaging results showed that all patients had ovarian space-occupying lesions involving the surrounding tissue; therefore, all patients were suspected to have malignant ovarian tumors before surgery. All 3 patients underwent surgical treatment. Specifically, 1 patient underwent bilateral salpingo-oophorectomy, and 2 patients underwent total hysterectomy and bilateral salpingo-oophorectomy. All patients received high-dose antibiotic treatment after surgery, and thus far, relapse has not been observed. Postoperative pathologicexamination showed purulent inflammation and sulfur granules, consistent with ovarian actinomycosis. Anaerobic culture was positive for 1 patient.

Conclusions: Ovarian actinomycosis is closely related to long-term IUD implantation. The clinical manifestations and imaging features of this disease are not specific; therefore, preoperative diagnosis is difficult. The disease is easily misdiagnosed as ovarian cancer. Sulfur granules are signs of ovarian actinomycosis, and thus, those with this manifestation should be carefully screened by pathologic examination. Surgery combined with antibiotic treatment is effective for ovarian actinomycosis, resulting in a good prognosis.

Objectives: Breast conservation therapy (BCT) or lumpectomy followed by radiation has been established as a preferred treatment for most patients with early-stage invasive breast cancer. About 20-40% of patients after initial lumpectomy will have to undergo re-excision due to a positive margin.

Methods: To determine the factors predicting higher risk of positive resection margin, we retrospectively analyzed 409 patients who underwent initial lumpectomy for invasive breast cancer from January 2019 through November 2022. Based on microscopic examination, the samples were divided into 3 subgroups with positive, close, or clean margins.

Results: Positive margin was more frequently associated with larger tumor size (P<0.0001), specified histologic type (P<0.0001), higher tumor grade (P=0.004), multifocality (P<0.0001), positive lymph node status (P=0.0005), and lymphovascular invasion (P=0.0007). Other factors were not significantly associated with margin status including HER2/ER/PR status, presence of carcinoma in situ component, age at diagnosis, and history of neoadjuvant chemotherapy.

Conclusions: From the clinical practice of individual institution, identification and comprehensive assessment of these pathologic predictors will be useful for clinical management and intraoperative surgical-decision-making to reduce the rate of re-excision.

Objectives: The aim of this study was to explore the role of integrin alpha V (ITGAV) and the related long noncoding RNA-microRNA-messenger RNA competing endogenous RNA (lncRNA-miRNA-mRNA ceRNA) network in the development and prognosis of cancers, especially gastric cancer (GC), through bioinformatic analysis.

Methods: Pan-cancer and GC data were collected from the UCSC Xena website, and validation datasets were obtained from the Gene Expression Omnibus (GEO). R (version 3.6.3), GraphPad Prism 8, and SPSS 23.0 software were used to analyze data and prepare figures.

Results: The expression of ITGAV in tumor tissues was higher than that of normal tissues in ten cancer types. A lower expression of ITGAV in five tumors (CESC, LGG, LIHC, MESO, and STAD) predicted better patient prognosis. In GC, the mRNA and protein expression of ITGAV in tumor tissues was higher than that of normal tissues. Patients with high ITGAV expression had poor prognosis and clinical characteristics, including worse grades and more advanced stages. Patients with higher ITGAV expression had higher immune and stromal scores and lower purity (P<0.05). In addition, seven miRNAs were found that were negatively correlated with ITGAV expression through the website; high expression of these miRNAs indicated a better prognosis. Using this correlation, the authors built the lncRNA-miRNA-ITGAV ceRNA network, to predict the prognosis of GC.

Conclusions: This study showed that ITGAV could be considered a prognostic factor for GC, and an lncRNA-miRNA-ITGAV ceRNA network was built to promote the exploration of the mechanism and prognosis of GC.

The histomorphology of liboblastoma is highly variable and comprises different patterns that are found admixed or in pure form within a tumor. The most important features - mature lipomatous, fibrotic, lipofibrous, and myxoid - overlap with the histomorphology of several other pediatric tumor entities. Regarding the morphologic overlaps, molecular diagnostics with identification of fusion transcripts involving PLAG1 or HMGA2 is essential to identify lipoblastomas. This paper describes the diagnostic procedure in general and two new fusion transcripts of lipoblastoma, MEG3-PLAG1 and COL1A1-PLAG1. In conclusion, the algorithm to diagnose lipoblastomas among this group of pediatric fibrotic, lipofibrous and mature lipomatous tumors essentially includes histomorphology, immunohistochemistry, and molecular diagnostics.