Polish Journal of Pathology最新文献

This case report describes a rare and challenging glioblastoma variant with a bi-phasic morphology comprising both giant cell and primitive neuronal components. The tumour exhibited aggressive features and was difficult to diagnose during the intraoperative evaluation due to the predominance of small blue cell morphology, which complicated differentiation from haematological and metastatic lesions. Im-munohistochemistry and molecular profiling confirmed a glioblastoma, IDH-wild-type, with combined giant cell and primitive neuronal features, and the p53 muta-tion in both components is a novel finding with potential implications for diagnosis and treatment. This report emphasises the importance of recognising morpholog-ical diversity in glioblastoma to avoid misdiagnosis and enable appropriate clinical management.

Anaplastic lymphoma kinase (ALK) rearranged lung adenocarcinoma is frequently characterised by prominent mucin secretion and a heterogeneous population of mucinous cells. These histological features may result in misdiagnosis as invasive mucinous adenocarcinoma. We conducted a comprehensive analysis of 4 cases of ALK-rearranged lung adenocarcinoma, focusing on the clinicopathological features, genetic mutations, and clinical outcomes. Among these cases, 3 cases were initially diagnosed as invasive mucinous adenocarcinoma, while one case was identified as recurrent invasive mucinous adenocarcinoma. The cohort comprised 3 female and 1 male patient/s, with ages ranging from 47 to 63 years (mean age 54.8 years). The tumour cells exhibited sieve-like tubular and solid signet ring structures, with evidence of intracytoplasmic and extracellular mucin secretion. Immunohistochemical analysis demonstrated diffuse expression of TTF-1, Napsin A, and ALK(D5F3) in tumour cells, while HNF4a, CK20, and MUC5AC were consistently negative. Next-generation sequencing analysis confirmed ALK rearrangements in 3 cases. Accurate identification of this specific subtype of lung adenocarcinoma is essential for administering appropriate treatment and reducing the risk of potential misdiagnosis.

Malignant melanoma is an aggressive skin cancer, with immune evasion mechanisms contributing to tumour progression. This study evaluated the relationship between mismatch repair (MMR) protein loss and the expression of immune checkpoint molecules programmed death ligand 1 (PD-L1) and galectin-9. Ninety melanoma cases (60 primary, 30 metastatic) were analysed by immunohistochemistry for MMR proteins, PD-L1, and galectin-9. Associations with clinicopathological features and overall survival (OS) were assessed. Mismatch repair protein loss occurred in 5% of primary and 16.7% of metastatic melanomas (p = 0.015). Programmed death ligand 1 was positive in 18.8% of cases, with higher expression in metastatic tumours, but this was not statistically significant (p = 0.106). All PD-L1 positive tumours retained MMR proteins. Galectin-9 expression tended to be higher in tumours with MMR loss and in PD-L1-positive cases, but correlations were not significant. Median OS was 26.0 months, and no variable significantly affected survival in multivariate analysis. Mismatch repair loss was more frequent in metastatic melanomas and associated with higher galectin-9 expression, whereas PD-L1 showed no clear link with MMR status. None of the associations reached statistical significance, emphasising the descriptive and exploratory nature of the study. These findings outline biomarker expression patterns in melanoma and support further investigation in larger cohorts, including patients treated with immune checkpoint inhibitors, to clarify their potential clinical relevance.

Determining the status of DNA mismatch repair (MMR) proteins is crucial for patients because they may respond differently to specific treatments and have a better prognosis. We proposed a panel with only 2 antibodies to determine the status of the MMR proteins, improving costs, workload, and delivery of results. Patients with adenocarcinoma and MMR determination were reclassified using only the evaluation of PMS2 and MSH6. The diagnostic performance of the 2-antibody test (proposed panel) and 4-antibody (traditional panel) test was compared against the polymerase chain reaction study (reference standard). A total of 202 cases were identified. The predominant histological type was adenocarcinoma not otherwise specified, the predominant histological grade was 2, and 60.9% of the cases were found in clinical stage II. When comparing the diagnostic performance of the traditional panel of 4 antibodies against a panel of 2 antibodies, no statistically significant differences were found (sensitivity 95.35% vs. 90.7%; specificity 98.74% vs. 98.11%; positive predictive value 95.35% vs. 92.86%; negative predictive value 98.74% vs. 97.50%; area under the curve 0.970 vs. 0.944; p = 0.419).Analysis of MMR status determination with only 2 antibodies demonstrates that it is as effective as using 4 antibodies.

We present a case involving a 70-year-old Latina woman who experienced a sud-den onset of lightheadedness, diplopia, vertigo, and loss of balance. Imaging studies revealed a right thalamic intracerebral haemorrhage that obstructed the velum interpositum. Following unsuccessful embolisation, the thalamic region was surgically resected. Histopathological and immunohistochemical analyses of the resected brain tissue demonstrated abnormal blood vessels permeating through excessively cellular brain parenchyma, raising significant concern for a glial neoplasm. This case also illustrates a rare occurrence of an arteriovenous malformation within the velum interpositum, which, when acutely filled with blood, can expand the cavum and clinically present as a sudden onset of headache and vertigo.

Nevus sebaceous (NS) is a benign hamartomatous lesion; however, benign proliferative lesions are less frequently associated with secondary neoplasms. The aim of this study is to evaluate the prevalence of secondary benign and malignant tumours seen in NS lesions, and to reveal the histopathological features of these lesions. Eighty-six NS cases were retrospectively evaluated for gender, age, lesion location, and accompanying lesions, as well as secondary benign and malignant tumours. The data obtained using descriptive statistics were analysed. 66.3% of cases were male, 33.7% were female, and the mean age was 37.8 years. 61.6% of lesions were localised on the face, 37.2% on the scalp, and 1.2% on the back. Secondary lesion development was observed in 39.5% of cases. The most common malignancy, as reported in the literature, was basal cell carcinoma.  Although secondary lesions, secondary tumours, and malignancy development are rare in NS lesions, careful follow-up and surgical excision if necessary are recommended, especially in adulthood. This study contributes to the literature by revealing the pathological characteristics of secondary lesions accompanying NS, emphasising the need for careful histological evaluation of NS excisions in the differential diagnosis and raising awareness that malignancies may be present.

Colon adenocarcinoma (COAD) is one of the most prevalent forms of cancer in the world. Still, the molecular mechanism of COAD development remains unknown, making it especially important to investigate the molecular mechanism of COAD development and identify new therapeutic targets. A real-time fluorescence quantification polymerase chain reaction (RT-qPCR) was used to determine the level of miR-21-5p expression in COAD tissues and cell lines. Both miR-21-5p silencing and overexpression were performed in LOVO and T84 cell lines. Cell viability, apoptosis rate, migration, and invasion ability were determined using MTT, flow cytometry, and the Transwell assay, respectively. Western blot was applied to detect the levels of protein expression associated with the epithelial-mesenchymal transition (EMT). Using a dual luciferase reporter gene, the targeting connection among miR-21-5p and Tensin 1 was validated. Tensin 1 expression was silenced to investigate its effect on miR-21-5p inhibitor activity in COAD cells. Subcutaneous tumor-forming animal experiments in nude mice were used to investigate the effect of miR-21-5p on COAD tumor growth in vivo. Ki-67 expression was identified through immunohistochemistry. MiR-21-5p was found in high concentrations in COAD tissues and cells. Overexpression of miR-21-5p increased COAD cell line viability and EMT, facilitated cell migration and invasion, and inhibited apoptosis. Tensin 1 was regulated negatively by miR-21-5p. Tensin 1 silencing reversed the effect of miR-21-5p silencing on COAD cells. Subcutaneous tumor formation experiments in nude mice revealed that inhibiting miR-21-5p expression slowed the growth rate of tumor volume. According to immunohistochemical results, the percentage of Ki-67-positive cells was significantly lower in the anti-miR-21-5p group. MiR-21-5p levels were upregulated in COAD cells, and reducing miR-21-5p expression inhibited COAD cell viability, migration, invasion, and EMT in vitro. Tensin 1 negatively regulated miR-21-5p, which regulated COAD cell and EMT progression.

Merkel cell carcinoma (MCC) is a rare and highly aggressive neuroendocrine cancer type that predominantly impacts sun-exposed skin areas in the elderly, particularly the head and neck (41-50%), followed by the limbs (32-38%). There is likely an association between MCC and other cutaneous malignancies, such as cutaneous squamous cell carcinoma (CSCC), Bowen's disease, and basal cell carcinoma. Cutaneous squamous cell carcinoma is the most common concurrent tumor with MCC, especially in sun-exposed regions of the skin. Herein, we present a case of coexistence of MCC and CSCC in the craniofacial region, accompanied by an extensive review of relevant literature on this topic.

This study determined novel metabolism-related diagnostic biomarkers for ulcer-ative colitis (UC) and assessed their correlation with immune cell infiltration levels. Transcriptome data of UC was downloaded from the Gene Expression Omnibus (GEO) database, metabolism-related genes were summarised from the Gene Set Enrichment Analysis (GSEA) database. A total of 537 metabolism-related differen-tially expressed genes (DEGs) in UC were applied to functional enrichment analy-sis. We processed least absolute shrinkage and selection operator (LASSO) regres-sion analysis and support vector machine-recursive feature elimination (SVM-RFE). We obtained 6 potential metabolism-related diagnostic biomarkers (CHST13, ETNK1, LPCAT1, PDE6A, PLA2G2A, and UGT2A3). Expression patterns and diagnostic ROC curves were depicted in both the training and testing co-horts to verify their diagnostic value. Immune infiltration analysis indicated that UC samples have more abundant infiltration levels of immune cells. Fur-thermore, the upregulated diagnostic biomarkers significantly positively cor-related with B cell memory, T cell CD4 memory activated, dendritic cells ac-tivated, etc., while the downregulated ones mainly significantly positively correlated with mast cells resting, NK cells activated, and macrophages M2. Our study primarily identified 6 metabolism regulators (CHST13, ETNK1, LP-CAT1, PDE6A, PLA2G2A, and UGT2A3) as potential diagnostic biomarkers for UC and determined their correlation with immune infiltration.

The presented work focuses on hypoxia-inducible factor 1a (HIF-1a) and carbonic anhydrase IX (CA IX) in colorectal cancer (CRC). The HIF-1a protein shows increased expression due to hypoxia, resulting in up-regulation of CA IX, which is involved in the survival of hypoxic cancer cells in the tumour microenvironment, with overexpression in various types of carcinomas. HIF-1a and CA IX immunohistochemical analysis was performed on 111 CRC samples. The primary goal was to determine the correlation of expression of proteins with clinical-morphological parameters and mutual correlation of the proteins in question. The HIF-1a expression was detected in 72.1% of CRC samples with exclusive nuclear localisation. The immunoreaction intensity was predominantly strong. Carbonic anhydrase IX protein was expressed in 75.7% of cases. The membrane positivity and strong immunoreaction intensity were mainly noticed. No statistically significant correlation between the expression of studied proteins and clinical-morphological parameters was confirmed. However, the results proved a statistically significant correlation in mutual co-localisation of given proteins. Despite contradictory scientific data, our findings suggest a mutual correlation between HIF-1a and CA IX in CRC. The presented hypothesis that their overexpression may represent a potential new therapeutic target in colorectal carcinogenesis might unveil novel strategies in disease development.