Polish Journal of Pathology最新文献

Breast cancer (BC) is the most frequently diagnosed cancer among women worldwide, including Algeria. Certain single nucleotide polymorphisms (SNPs) have been linked to higher risk of BC. Several studies have been performed on the insulin- like growth factor 1 (IGF-1) T > C (rs7136446) and the interleukin 6 (IL-6) 174 G > C (rs1800795) SNPs to explore their role in BC. The aim of this study is to investigate the association between the 2 SNPs, IL-6 (rs1800795) and IGF-1 (rs7136446) with BC in the population of western Algeria. This study was carried out for the first time among the Algerian population. This case-control study included 109 BC patients and 112 healthy controls. Genomic DNA was extracted from peripheral blood samples. DNA concentration was determined using the Qubit 2.0 fluorometer. The genotyping of selected SNPs was performed by real-time polymerase chain reaction followed by statistical analysis to assess genotypic frequencies and genetic association with BC. The results showed that IGF-1 rs7136446 was positively associated with BC (p = 0.00001) and that the distribution of genotype frequencies of rs7136446 showed a statistically difference between human epidermal growth factor receptor 2 (HER-2) positive and HER-2 negative BC (p = 0.04), but this association did not last after the correction of Bonferroni. No association was found in genotype distribution of the IL-6 (rs1800795) among controls and BC patients or with clinicopathological parameters including HER-2 status in BC (p > 0.05). In summary, our findings indicate that IGF-1 rs7136446 is associated with BC in our population of western Algeria.

Placental foetal vascular malperfusion (FVM) may be responsible for complicated foetal or neonatal condition. By highlighting endothelial fragmentation, the double E-cadherin/CD34 immunostain highlights distal villous endothelial fragmentation of recent FVM not seen on haematoxylin-eosin stained sections. We routinely perform the stain on a grossly unremarkable placental sections of placentas predominantly from pregnancies with mass-forming foetal anomalies and umbilical cord complications. The stain can upgrade the FVM and/or reveal its temporal heterogeneity, both useful in establishing the cause of foetal death or poor neonatal condition. It also highlights the basement membranes of syncytiotrophoblastic cells which, in conjunction with endothelial staining, is helpful in the diagnosis of widening thereof in distal villous hypomaturity. It can distinguish mineralised stem occluding thrombi from mineralised trophoblastic pseudo inclusions - the former outlined by CD34, the latter by E-cadherin - thus helping to differentiate FVM from placental aneuploidies. The E-cadherin component helps in the diagnosis of trophoblastic lesions of shallow placental implantation featuring an increased number of extravillous trophoblasts in placental membranes and chorionic disc. Therefore, the double immunostain is helpful in histological diagnosis of placental lesions and patterns of injury.

The metastatic gastric adenocarcinoma that diffusely invades the bone marrow frequently has a short clinical course and an unfavourable prognosis. This case study aimed to elucidate the clinicopathological characteristics and prognosis of gastric cancer patients with diffuse bone marrow metastases. The specific clinicopathologic features associated with diffuse bone metastasis from gastric cancer must be given special attention due to the poor prognosis of this condition. Regular follow-up and a bone marrow examination in high-risk patients can assist in identifying advanced disease early.

The calcium-activated chloride channel (CLCA4) in colon adenocarcinoma (COAD) and immunological infiltration have not been extensively studied. This work thoroughly employed several datasets to assess the expression, prognosis, and association between immune infiltration and clinicopathological characteristics of CLCA4 in cancer, as well as look into potential signalling pathways. The human protein atlas (HPA), TIMER, UALCAN, TISIDB, GSCA, SangerBox, GeneMANIA, and LinkedOmics were among the datasets that were used. The findings demonstrated that, in comparison to normal tissues, COAD tissues had lower levels of CLCA4 expression. The prognosis was worse for those whose levels of CLCA4 expression were lower. For validation, immunohistochemistry (HPA) was used. Positive correlations between CLCA4 mRNA expression and its copy number variation (CNV) were observed, and CLCA4 CNV was linked to immunological infiltration. Subsequent investigation demonstrated the association between immune cell markers, immune checkpoint genes, and immunological infiltration with CLCA4. The overall survival and disease-free survival of M0 patients were considerably better than those of M1 patients, and the groups with tumour stages M0 and M1 had notably different levels of CLCA4 expression. Its substantial enrichment in ion channel activity, transmembrane transporter activity, digestion, and other biological processes was revealed by gene ontology analysis. Oxidative phosphorylation, pancreatic secretion, Parkinson's and Alzheimer's diseases, renin secretion, and other signalling pathways were the primary associations found for CLCA4. It is evident that the immunological microenvironment and functions like ion transport, metabolism, and intestinal digestion are all impacted by CLCA4 expression.

The enzyme phosphatidylinositide-3-kinase (PI3K) regulates cellular proliferation and apoptosis. Somatic mutations in the PIK3CA gene can accelerate these processes and significantly contribute to the development and progression of breast cancer. This study aimed to ascertain the PIK3CA gene mutations in breast cancer patients and investigate their correlation with certain clinicopathological characteristics. We conducted a mutational investigation of the PIK3CA gene using next-generation sequencing (NGS) in a sample of 100 cases of primary breast cancer. We investigated the associations between PIK3CA mutations and clinicopathological characteristics. Our analysis revealed a mutation rate of 45% in the PIK3CA gene. The mutation frequencies for the three hotspot sites were 33.3% for E545K in exon 10, 26.7% for H1047R in exon 20, and 6.7% for E542K in exon 10. Of the 45 individuals with tumors carrying the PIK3CA mutation, 41 (91.2%) had only one mutation, while 4 (8.8%) had two. Pathogenic PIK3CA mutations were significantly correlated with tumor size ( p = 0.015) and tumor location ( p = 0.017). Our study results demonstrated a significant association between tumor size, location, and presence of the PIK3CA mutation. We must validate these data in larger sample sizes.

Fat mass and obesity-associated protein (FTO) was the earliest discovered m6A RNA demethylase. Previous studies have indicated that m6A modifications significantly influence the development, progression, and prognosis of various cancers. This study aimed to explore the role of FTO overexpression in colorectal cancer development, as well as its biological functions. Expression levels of FTO mRNA and protein in colorectal cancer and adjacent non-cancerous tissues were assessed using RT-PCR and immunohistochemistry. FTO overexpression was achieved by transiently transfecting an FTO overexpression plasmid into the HCT15 SW480 colorectal cancer cell line. The impact of this overexpression on the cells was evaluat-ed using real-time fluorescence quantitative PCR, CCK8 proliferation assays, colony formation assays, scratch healing assays, and transwell migration and invasion assays. RT-PCR and immunohistochemistry demonstrated negligible or low FTO mRNA and protein expression in adjacent non-cancerous tissues, while high expression levels were observed in cancerous tissues. FTO overexpression in the HCT15 SW480 cell line significantly increased FTO mRNA levels compared to the control group. CCK8 assays indicated that cell proliferation was significantly higher in the FTO overexpressing group than in the control group. Colony formation assays revealed an increased number of colonies in the FTO group compared to controls. Scratch healing assays showed enhanced cell migration in the FTO group relative to controls. Transwell assays demonstrated a significant increase in invasive cell numbers in the FTO group compared to controls. In conclusion, FTO is highly expressed in colorectal cancer tissues, and its overexpression promotes proliferation and migration of colorectal cancer cells, underscoring its critical oncogenic role in this cancer type.

Low-grade myofibroblastic sarcoma is an uncommon malignancy that can be difficult to identify and for which there is no unified treatment protocol. We report herein a case of an 81-year-old male who presented with a giant irregular breast mass and was diagnosed with low-grade myofibroblastic sarcoma. In this study we summarise the clinicopathological features of 13 reported cases of myofibroblastic sarcoma arising in the breast, present the diagnostic process and treatment procedure of our case, and discuss the differential diagnosis from other similar diseases, to provide constructive information and promote deep understanding of myofibroblastic sarcoma in the future.

A 27-year-old woman with jaundice and abdominal pain was admitted to an emergency ward. The diagnostic process showed that gallstones were causing her symptoms. The patient was treated via endoscopic retrograde cholangiopancreatography (ERCP), and during the procedure she suffered a cardiac arrest. Autopsy findings included multiple pulmonary bile emboli as well as features of disseminated intravascular coagulation. Among 22 thus far described cases of bile pulmonary embolism, 13 were associated with medical procedures involving the liver and biliary tract. We present the case report of a pulmonary bile embolism associated with acute pancreatitis treated via ERCP in a woman with gallbladder bile stones.

This research paper evaluates the efficacy of co-testing in precluding cervical cancer, with a particular focus on distinguishable outcomes of the human papillomavirus (HPV) vs. cytology tests. A retrospective review of 5948 patients, who tested positive for high-risk HPV but showed negative cytologic findings, revealed that 15.006% tested positive in subsequent screenings. A comparative analysis of various commercial HPV tests highlighted the precision of mRNA-based HPV testing by Aptima (Hologic) in reducing the likelihood of false-negative cytology. The paper challenges the conviction that a negative cytology alone suffices advocating for a condensed testing interval in instances of positive HPV outcomes, thereby facilitating earlier intervention and optimal preventive care. These findings unveil an exigency for reconsidering preventive strategies based on test outcomes.