{"title":"Clinicopathological and molecular features of non-small cell lung cancer that transform to small-cell lung cancer: Case reports and literature review.","authors":"Qiqi Gao, Lixin Zhang, Yulong Zheng","doi":"10.5114/pjp.2025.153971","DOIUrl":"10.5114/pjp.2025.153971","url":null,"abstract":"<p><p>The purpose of this study is to explore the clinical and pathological characteristics as well as the molecular pathogenesis of patients with non-small cell lung cancer (NSCLC) transforming into small cell lung cancer (SCLC). We investigated 14 patients with advanced NSCLC that transformed into SCLC. Whole genome sequencing (WES) was applied to analyse 14 tumour specimens (including NSCLC and SCLC specimens from each patient) from 7 patients to detect genetic predictive factors for small-cell transformation. The clinicopatho-logical characteristics of these 14 patients were collected and analysed. In addition, a detailed literature review was conducted to identify similar cases of transforma-tion from NSCLC to SCLC. Fourteen cases were included. The basic condition of patients who had undergone the transformation was found to be similar to those individuals without any trans-formation. After SCLC transformation, the mutation spectrum changed: C>T de-creased and C>A increased. In comparison to the initial NSCLC, the copy number variants (CNV) burden in the transformed SCLC increased considerably in a subset of patients. Clonal evolution analysis revealed intriguing connections and notable differences between the genetic clones of the initial NSCLC and the transformed SCLC. It was found that the process of transformation took a longer time in fe-males compared to males. Furthermore, it was observed that the transformation time for LADC was longer compared to squamous cell carcinoma (SCC). Addition-ally, the analysis revealed that after completion of the transformation, the OS time for males was found to be longer than that for females. Secondary biopsy is a crucial step in assessing the genetic and histological alter-ations that occur after a patient develops resistance to their initial treatment. This procedure is vital not only for individuals who have been treated with tyrosine kinase inhibitors but also for those who have undergone chemotherapy or immuno-therapy. One interesting finding is that the mutation rate of p53 and RB1 in trans-formed SCLC is lower compared to de novo SCLC. Specifically, there is a decrease in the C > T mutation and an increase in the C > A mutation following transforma-tion. Moreover, the transformed SCLC appears to originate from the major clones of the initial NSCLC.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 2","pages":"94-109"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Multifocal cutaneous leishmaniasis in a patient treated with golimumab for psoriaticarthritis.","authors":"Veronica Forte, Anna Silvia Biamonte, Massimo Menichini, Fabrizio Liberati, Luca Ventura","doi":"10.5114/pjp.2025.153977","DOIUrl":"10.5114/pjp.2025.153977","url":null,"abstract":"<p><p>Leishmaniasis is a zoonosis caused by protozoans transmitted by sandflies. Immu-nosuppression is a risk factor for developing leishmaniasis in patients treated with TNF inhibitors for autoimmune diseases. A 65-year-old man with a 14-year histo-ry of psoriatic arthritis in treatment with methotrexate, treated with golimumab during the last 2.5 years, presented ulcerations of the buttocks and upper back. Histopathological findings allowed us to yield the diagnosis of cutaneous leishman-iasis. Therapy was suspended and the patient underwent appropriate treatment. Five cases of leishmaniasis in patients treated with golimumab were reported in literature and ten cases were mentioned in retrospective reviews.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 2","pages":"158-162"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinicopathological features of anaplastic lymphoma kinase-rearranged lung adenocarcinoma initially misdiagnosed with invasive mucinous adenocarcinoma - a retrospective study.","authors":"Xiaomin Dai, Xiaoyue Feng, Yanbo Lu, Fang Peng","doi":"10.5114/pjp.2025.155788","DOIUrl":"10.5114/pjp.2025.155788","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 3","pages":"187-194"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gizem Teoman, Mustafa Emre Ercin, Safak Ersoz, Savas Yayli, Murat Livaoglu
{"title":"Unravelling the link between mismatch repair protein deficiency and immune checkpoint markers - programmed death ligand 1 and galectin-9 expression in malignant melanoma.","authors":"Gizem Teoman, Mustafa Emre Ercin, Safak Ersoz, Savas Yayli, Murat Livaoglu","doi":"10.5114/pjp.2025.155817","DOIUrl":"10.5114/pjp.2025.155817","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 3","pages":"239-247"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Malignant brain tumour with challenging intraoperative findings.","authors":"Gabriele Gaggero, Silvia Bozzano, Nicoletta Fasano, Michele D'Agruma, Valerio GaetanoVellone, Giulio Fraternali Orcioni","doi":"10.5114/pjp.2025.153979","DOIUrl":"10.5114/pjp.2025.153979","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 2","pages":"168-172"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"CMTM6: a potential biomarker in non-small cell lung carcinoma.","authors":"Seda Tas Ayçiçek, Sıddıka Fındık","doi":"10.5114/pjp.2025.159328","DOIUrl":"10.5114/pjp.2025.159328","url":null,"abstract":"<p><p>Lung cancer is the most common cause of cancer-related deaths worldwide. With the advent of immunotherapy, programmed cell death-1 and programmed death ligand 1 (PD-L1) inhibitors have gained clinical importance, driving research into their regulatory mechanisms. CKLF-like MARVEL transmembrane domain- containing 6 (CMTM6) has been identified as a key regulator of PD-L1. In our study, we aimed to assess the prognostic significance of PD-L1 and CMTM6 expression in patients with non-small cell lung carcinoma (NSCLC). This study included 100 patients with NSCLC. CMTM6 and PD-L1 expression were evaluated using immunohistochemistry, and H-scores were calculated. A positive correlation was observed between H-PD-L1 and H-CMTM6 scores. In addition, both immunohistochemical scores were positively correlated with tumor size and grade. Both H-PD-L1 and H-CMTM6 scores of patients with adenocarcinoma were found to be lower than those of squamous carcinoma and other carcinoma types. Non-mucinous adenocarcinomas were grouped according to their predominant pattern (Group 1: lepidic pattern, Group 2: acinar and papillary pattern, Group 3: solid, micropapillary, and complex glandular/cribriform pattern). Group 3 had higher H-PD-L1 and H-CMTM6 scores than the others. Our study demonstrated a correlation between CMTM6 and PD-L1 in NSCLC and suggested that CMTM6 may serve as a potential adverse prognostic marker.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 4","pages":"307-317"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147576233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Arteriovenous malformation within the velum interpositum.","authors":"Aleksandar Krbanjevic, Tibor Valyi-Nagy","doi":"10.5114/pjp.2025.153978","DOIUrl":"10.5114/pjp.2025.153978","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 2","pages":"163-167"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Leonardo Saul Lino-Silva, Ángeles Galán-Ramírez, Sabrina B Martínez-Villavicencio, Luisa Rivera-Moncada, César Zepeda-Najar, Hanna I Ortega-Martínez
{"title":"Assessment of the status of DNA mismatch repair proteins by immunohistochemistry. Proposal for evaluation with two antibodies.","authors":"Leonardo Saul Lino-Silva, Ángeles Galán-Ramírez, Sabrina B Martínez-Villavicencio, Luisa Rivera-Moncada, César Zepeda-Najar, Hanna I Ortega-Martínez","doi":"10.5114/pjp.2025.148390","DOIUrl":"10.5114/pjp.2025.148390","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 1","pages":"54-58"},"PeriodicalIF":0.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fatma Seher Pehlivan, Ömer Atmış, Hanife Seda Mavili, Peyker Temiz
{"title":"A retrospective analysis of secondary malignancy development in nevus sebaceus.","authors":"Fatma Seher Pehlivan, Ömer Atmış, Hanife Seda Mavili, Peyker Temiz","doi":"10.5114/pjp.2025.157906","DOIUrl":"10.5114/pjp.2025.157906","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 3","pages":"233-238"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"MiR-21-5p regulates colon adenocarcinoma cell progression and epithelial-mesenchymal transition by negatively regulating Tensin 1.","authors":"Lingqing Cai, Jiangrong Chen, Chuanqing Ke, Baiping Zhang, Yuqing Xiong, Huiying Fu","doi":"10.5114/pjp.2025.156556","DOIUrl":"10.5114/pjp.2025.156556","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49692,"journal":{"name":"Polish Journal of Pathology","volume":"76 3","pages":"214-232"},"PeriodicalIF":0.8,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}