Diagnostic Pathology最新文献

{"title":"Primary secretory carcinoma of thyroid with unusual features mimicking metastasis?","authors":"Joseph Teague, Allison Ciolino, Mirabelle Sajisevi","doi":"10.1186/s13000-025-01693-4","DOIUrl":"10.1186/s13000-025-01693-4","url":null,"abstract":"<p><strong>Introduction: </strong>Secretory Carcinoma (SC) of the thyroid is a relatively new and often misdiagnosed cancer. Like SC of the breast and salivary gland, it is characteristically diffusely positive for S100 and Mammaglobin by immunohistochemical (IHC) staining.</p><p><strong>Methods: </strong>Case report.</p><p><strong>Results: </strong>A 63-year-old female presented with neck swelling and difficulty breathing. CT scan showed a large thyroid mass. Tracheal compression and deviation required stent placement and urgent radiation. Microscopic analysis showed neoplastic cells with frequent intracytoplasmic globules, including signet-ring cells. IHC stains were inconclusive to tumor type and metastasis from an occult primary was considered. However, PET-CT scan, mammography, and upper endoscopy were negative. Next-generation sequencing was performed revealing an ETV6-NTRK3 fusion favoring SC of the thyroid.</p><p><strong>Conclusions: </strong>SC of the thyroid with unusual histomorphology and IHC staining may be overlooked and can mimic a metastasis. Given that a correct diagnosis critically affects prognosis and treatment, pitfalls can be avoided by utilizing molecular testing in complicated cases.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"90"},"PeriodicalIF":2.3,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12312264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nodule density on CT-scan correlates with CYP11B1 expression in a patient with ARMC5 mutated primary bilateral macronodular adrenal hyperplasia.","authors":"Fen Wang, Yu Luo, Zheng Liu, Junhui Xie","doi":"10.1186/s13000-025-01671-w","DOIUrl":"10.1186/s13000-025-01671-w","url":null,"abstract":"<p><strong>Purpose: </strong>Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare subtype of Cushing's syndrome, with some cases exhibiting a familial aggregation tendency. The heterogenous expression of CYP11B1 mRNA among multiple adrenal nodules in PBMAH had not been previously reported. This study aims to investigate the correlation between CYP11B1 mRNA expression and Hounsfield unit (Hu) density in computed tomography (CT) scans in a patient with ARMC5 mutated PBMAH.</p><p><strong>Methods: </strong>A 47-year-old male came to our hospital for headache and hypertension. He was diagnosed as PBMAH later and received adrenalectomy. DNA sequencing was performed on the patient's peripheral blood, his relatives' peripheral blood, and the patient's adrenal tissues. Additionally, four different adrenal nodules from the patient were collected to explore the relationship between CYP11B1 mRNA expression and Hu density in CT scanning.</p><p><strong>Results: </strong>A family with autosomal dominant inherited PBMAH was identified. Second generation sequencing of peripheral blood and Sanger sequencing of adrenal tissues identified a novel ARMC5 pathogenic variant, c.1865-2_1865-1del, which was also present in the patient's brother, sister and nephew. The patient's adrenal was enlarged diffusely but cushingoid feature was not severe. The adrenal imaging showed bilateral macronodules resembling adrenal tumors. Notably, the Hu values varied significantly among different nodules, and interestingly, the CYP11B1 mRNA expression was found to be parallel to the Hu values.</p><p><strong>Conclusions: </strong>We reported a family of PBMAH with novel ARMC5 pathogenic variant. The index patient exhibited heterogeneous adrenal nodules with distinct Hu values and CYP11B1 mRNA levels.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"89"},"PeriodicalIF":2.3,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12308895/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic challenges of FNA cytology of SETTLE: a case report and review of the literature.","authors":"Evelyn O Ilori, Hanan Hamdan, Venetia Sarode, Iram Hussain, Ana Islam, Justin A Bishop","doi":"10.1186/s13000-025-01682-7","DOIUrl":"10.1186/s13000-025-01682-7","url":null,"abstract":"<p><strong>Background: </strong>Spindle epithelial tumor with thymus-like differentiation or elements (SETTLE) is a rare and malignant biphasic tumor of the thyroid that has proven challenging to diagnose by cytology.</p><p><strong>Case presentation: </strong>A 20-year-old-male presented with a large left neck nodule and neck tightness. Laboratory tests were normal. Computed Tomography (CT) of the neck revealed a thyroid mass involving the isthmus and entire left lobe. Ultrasound-guided fine needle aspiration of the mass demonstrated sheets and clusters of oval to spindle cells with associated fibrovascular cores. The cells had moderately pleomorphic nuclei with stippled chromatin, inconspicuous nucleoli, and minimal cytoplasm, and a diagnosis of medullary thyroid carcinoma was made. A total thyroidectomy and neck dissection was performed. Morphological and immunohistochemical evaluation of the specimen resulted in a diagnosis of SETTLE with angioinvasion and involved lymph nodes.</p><p><strong>Conclusion: </strong>SETTLE has several mimics cytologically, such as medullary thyroid carcinoma, that makes accurate pre-operative diagnosis challenging. We present a review of cytology information from literature, highlighting features that differentiates SETTLE from its mimics.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"88"},"PeriodicalIF":2.3,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12308978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extra-skeletal Ewing's sarcoma with EWSR1::ERG translocation of the breast: a case report.","authors":"Weiping Li, Yingjun Wu, Xingmei Dong, Xinmin Qiu, Guangjuan Zheng, Yu Zhang","doi":"10.1186/s13000-025-01692-5","DOIUrl":"10.1186/s13000-025-01692-5","url":null,"abstract":"<p><strong>Background: </strong>Ewing's sarcoma (ES), first described by Ewing in 1921, is a highly malignant small blue round cell tumor that arises in bone or extraskeletal soft tissues. It predominantly affects patients aged 10 to 30 years. Approximately 12% of cases involve solid organs, often presenting as rapidly growing masses in deep soft tissues. The most common genetic alteration in ES is the t(11;22)(q24;q12) translocation, resulting in the EWSR1::FLI1 fusion gene, which accounts for 90% of tumors. Extraskeletal Ewing's sarcoma (EES) presented as a breast mass is extremely rare, with only a handful of cases documented in the literature. Notably, a primary breast ES harboring the EWSR1::ERG fusion gene has never been reported previously.</p><p><strong>Case presentation: </strong>A 23-year-old woman presented to our hospital with a rapidly growing, palpable left breast mass. Histopathological examination of the surgical specimens (including histological features, immunohistochemical staining, and molecular analysis) confirmed the diagnosis of primary EES with EWSR1::ERG translocation in the breast. Despite receiving multimodal adjuvant therapy (surgery, chemotherapy and radiotherapy), the patient experienced two disease relapses within 15 months.</p><p><strong>Conclusions: </strong>Our report establishes the first molecularly confirmed case of ES harboring the rare EWSR1::ERG translocation presenting as a primary breast mass. Primary breast ES can demonstrate significant morphologic and immunohistochemical overlap with other small round cell tumors. This case highlights that next-generation sequencing (NGS) is the gold standard for definitive diagnosis, as it reliably detects fusion partners-especially in rare tumors arising in uncommon locations.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"87"},"PeriodicalIF":2.3,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12281681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144689427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AI-based virtual immunocytochemistry for rapid and robust fine needle aspiration biopsy diagnosis.","authors":"Irfan Ahmed, Wei Zhang, Pikting Cheung, Vardhan Basnet, Zulfiqar Ali, May Py Tse, Fraser Hill, Tom Tak Lam Chan, Haibo Hu, Xinyue Li, Condon Lau","doi":"10.1186/s13000-025-01687-2","DOIUrl":"10.1186/s13000-025-01687-2","url":null,"abstract":"<p><p>Presently, pathologists need to stain biopsy samples with standard and antibody-based immunocytochemistry (ICC) reagents for final diagnosis. Antibody reagents take hours to days to perform staining, along with requiring specialized equipment and technical skills. We have developed an AI-based virtual ICC platform that measures individual cell morphological features in whole slide images and labels the cells as immuno-positive or negative. The platform runs on the cloud in minutes, saving pathologists significant time and cost. For this purpose, cytopathology slides were obtained from N = 100 suspected cases of canine T-cell and B-cell lymph node lymphomas through Fine Needle Aspiration (FNA). Cytopathology slides were initially stained with the standard Wright-Giemsa (WG) and then re-stained with ICC reagents, anti-CD3 or anti-PAX5 antibodies, resulting in a pair of stained slides (WG-CD3 or WG-PAX5). Prior to AI training, cytopathology slides were digitally scanned, and the resulting images underwent a comprehensive pre-processing protocol to separate stains of interest for nuclei segmentation in WG and CD3 or PAX5. Following nuclei segmentation, the cell features from processed image pairs were translated into a structured tabular features format with immuno-positive and negative labeled classes. In total, the geometrical features of 8.48 million segmented cells (4.24 million pairs) were translated into a tabular format and paired based on the Euclidean cell matching algorithm. This approach facilitated the prediction of cell labels, achieving sensitivity and specificity of 0.98 and 0.97 (0.94 and 0.99), respectively for CD3 (PAX5). Additionally, the AI-based virtual ICC has demonstrated capabilities in cell counting, cell spatial distribution, cell segmentation, and classification. It offers a rapid, accurate, and precise evaluation of FNA samples and has the potential to help advance diagnostic cellular and molecular pathology capabilities.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"86"},"PeriodicalIF":2.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12273370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital twin manifesto for the pathology laboratory.","authors":"Albino Eccher, Fabio Pagni, Massimo Dominici, Luca Reggiani Bonetti, Stefano Marletta, Enrico Munari, Giorgio Cazzaniga, Anil V Parwani, Vincenzo L'Imperio, Angelo Paolo Dei Tos","doi":"10.1186/s13000-025-01679-2","DOIUrl":"10.1186/s13000-025-01679-2","url":null,"abstract":"<p><p>This manuscript presents a manifesto developed by a multifaceted board of stakeholders aimed at guiding the implementation of Digital Twin (DT) technology in pathology laboratories. DTs, already transformative in other sectors, hold substantial promise for enhancing operational efficiency, diagnostic accuracy, and quality of care in pathology. We provide a comparative analysis of traditional versus DT-enhanced workflows across critical steps including accessioning, grossing, processing, embedding, cutting, staining, scanning, diagnosis, and archiving. The framework highlights measurable gains such as up to 90% reduction in labeling errors, 20-30% improvements in slide quality, and 30-50% reductions in diagnostic turnaround time. Alongside these benefits, we address key implementation challenges including upfront infrastructure costs, workforce adaptation, and data security concerns. A practical, phased deployment strategy is proposed-centered on LIS integration, IoT sensors, AI modules, and robust data governance. Estimated setup costs for a medium-sized laboratory range between USD 100,000 and USD 200,000, with a phased rollout timeline of 12-24 months. Supporting technologies like robotic process automation (RPA), collaborative robotics, and edge computing are also discussed as enablers of successful DT adoption. The manifesto closes by identifying critical research gaps, including the need for longitudinal studies evaluating DTs' clinical and economic impacts, integration within existing hospital IT systems, and ethical implications of AI-assisted diagnostics. Through this collective vision, we provide a realistic and actionable roadmap to drive the transition toward predictive, efficient, and digitally optimized pathology laboratories.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"84"},"PeriodicalIF":2.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12273362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of α-SMA/FAP-positive cancer-associated fibroblasts with clinicopathological features and prognosis in extrahepatic cholangiocarcinoma.","authors":"Xiaojun Sui, Zhangqiang Zheng, Lei Yang, Dapeng Zhang, Xiangyu Sun, Ximo Wang","doi":"10.1186/s13000-025-01691-6","DOIUrl":"10.1186/s13000-025-01691-6","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the value of cancer-associated fibroblasts (CAFs) that positively express α-smooth muscle actin (α-SMA) and fibroblast activation protein (FAP) as survival indicators for patients with extrahepatic cholangiocarcinoma (eCCA).</p><p><strong>Methods: </strong>The clinicopathological data of eCCA patients who underwent surgical treatment in Tianjin Nankai Hospital from January 1, 2019, to December 31, 2022, were retrospectively analysed. A total of 79 patients were included, 49 were male and 30 were female, with an age of (64.3 ± 8.3) years. Clinicopathological data such as age, gender, tumour location, lymph node metastasis, tumour differentiation degree, and TNM stage of the patients were recorded. The expressions of α-SMA and FAP, the markers of CAFs, in eCCA were detected by immunohistochemistry. The relationships between the expressions of the two proteins and the clinicopathological data and prognosis of the patients were analysed.</p><p><strong>Results: </strong>The positive expressions of α-SMA and FAP in CAFs were observed in 78.5% (62/79) and 35.4% (28/79) of the patients, respectively. There was a highly positive correlation between the expression of α-SMA and that of FAP (r = 0.992, P < 0.001). Univariate analysis showed that CAFs with positive FAP expression and tumour location were statistically significant in terms of overall survival time and recurrence-free survival time. Multivariate analysis indicated that positive FAP expression and tumour location might be independent factors affecting overall survival time and recurrence-free survival time.</p><p><strong>Conclusions: </strong>CAFs with positive FAP expression may be a prognostic indicator of poor postoperative survival in eCCA patients and may serve as an independent predictor of poor postoperative survival rate in these patients.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"85"},"PeriodicalIF":2.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12273351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144658689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MTHFD1L is a novel prognostic marker and therapeutic target in cutaneous melanoma.","authors":"Xinlian Xie, Guangfu Shi, Kebin Ning, Zhenjie Wu","doi":"10.1186/s13000-025-01680-9","DOIUrl":"10.1186/s13000-025-01680-9","url":null,"abstract":"<p><strong>Background: </strong>Skin cutaneous melanoma (SKCM) is one of the highly malignant tumor. This study aimed to investigate the expression levels of MTHFD1L in cutaneous melanoma and to uncover its potential biological significance.</p><p><strong>Methods: </strong>This investigation employed the TCGA-SKCM dataset along with combined GSE15605 and GSE19234 datasets to analyze MTHFD1L expression patterns. Comprehensive bioinformatics analyses were conducted, including GO and KEGG pathway enrichment analyses, protein-protein interaction network construction, and evaluation of the relationship between MTHFD1L expression and immune infiltration. Prognostic significance was assessed using the GEPIA2 database. Experimental validation involved: (1) RT-qPCR, Western blot, and IHC staining to compare MTHFD1L expression between SKCM and normal tissues; (2) establishment of MTHFD1L knockdown models in A375 and 2058 cell lines for functional characterization.</p><p><strong>Results: </strong>The MTHFD1L level was increasing in SKCM tissues from GSE15605/GSE19234 and TCGA-SKCM, and high MTHFD1L expression correlated with poor overall survival. The RT-qPCR, Western blot and IHC confirmed the accuracy of bioinformatics. Knockdown of MTHFD1L significantly inhibited proliferation, migration, invasion, and clonogenic ability in A375 and A2058 melanoma cells, potentially through regulation of the TGF-β/SMAD signaling pathway.</p><p><strong>Conclusion: </strong>MTHFD1L is a potential biomarker in cutaneous melanoma, and could potentially serve as a therapeutic target for SKCM.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"83"},"PeriodicalIF":2.4,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12243374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144607798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vegetative pyodermatitis-pyostomatitis in a patient with Crohn's disease: a clinical case report.","authors":"Juliellen Luiz da Cunha, Isabella Bezerra Araújo Cirilo, Ilan Hudson Gomes de Santana, Paulo Rogério Ferreti Bonan","doi":"10.1186/s13000-025-01681-8","DOIUrl":"10.1186/s13000-025-01681-8","url":null,"abstract":"<p><strong>Introduction: </strong>Pyodermatitis-pyostomatitis vegetans (PPV) is a rare inflammatory mucocutaneous dermatosis of unknown etiology. It is characterized by the appearance of vesicles, pustules, vegetating plaques, and erythematous lesions, often associated with underlying inflammatory bowel diseases such as Crohn's disease.</p><p><strong>Objective: </strong>To report a case of vegetative pyostomatitis in a patient with Crohn's disease, focusing on the diagnostic process and therapeutic approach.</p><p><strong>Case report: </strong>A 47-year-old female patient, identified as AMSP, with a known diagnosis of Crohn's disease and a history of colostomy, presented with complaints of lesions affecting both the skin and oral mucosa. Dermatological examination revealed a well-defined, flat, round lesion with darkened borders in the right axillary region. Intraoral examination showed erythematous, net-like plaques along the lateral border of the tongue, accompanied by ulcerations and vesicles. An incisional biopsy of the tongue was performed. Histopathological analysis revealed a predominantly eosinophilic inflammatory infiltrate in the connective tissue and epithelial acantholysis. The clinical presentation, patient history, and histopathological findings led to the diagnosis of pyodermatitis-pyostomatitis vegetans. The patient was treated with topical 0.1% tacrolimus ointment applied twice daily for 15 days. Following this intervention, there was complete resolution of the lesions.</p><p><strong>Conclusion: </strong>Pyodermatitis-pyostomatitis vegetans is an uncommon condition that may serve as an oral and cutaneous manifestation of Crohn's disease. The presence of vegetating plaques on the skin and vesiculopustular lesions in the oral cavity should raise clinical suspicion. Histopathological examination via biopsy remains the gold standard for definitive diagnosis. Treatment is typically straightforward, with an excellent prognosis when managed appropriately.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"82"},"PeriodicalIF":2.4,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12239402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144599657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Total m6A RNA levels and VIRMA expression as potential diagnostic and prognostic markers in oral squamous cell carcinoma.","authors":"Kaori Shima, Yudai Shimojukkoku, Yasunobu Oku, Kanako Higashimoto, Takahiro Tsuchiyama, Yuka Kajiya, Miyako Kurihara-Shimomura, Tomonori Sasahira","doi":"10.1186/s13000-025-01678-3","DOIUrl":"10.1186/s13000-025-01678-3","url":null,"abstract":"<p><strong>Background: </strong>Oral squamous cell carcinoma (OSCC) is associated with poor prognosis due to extensive local invasiveness and lymph node metastasis, often leading to a significant decrease in aesthetics and function after surgery. Therefore, elucidation of the molecular mechanisms underlying OSCC is necessary for its early detection and treatment. N6-methyladenosine (m6A) modification of mRNA is the most common form of post-transcriptional RNA methylation and is often involved in the progression of cancer by regulating the expression of various genes. Recent studies reported the tumor-promoting effects of vir-like m6A methyltransferase associated (VIRMA, also termed KIAA1429), a novel molecule involved in m6A modification; however, its role in OSCC remains poorly understood.</p><p><strong>Methods: </strong>In the present study, we determined the total m6A levels and VIRMA expression in OSCC using immunohistochemistry of tissue specimens and evaluated their association with clinicopathologic characteristics. We also performed gene expression analysis of VIRMA/KIAA1429 using public datasets.</p><p><strong>Results: </strong>We found that the m6A levels were significantly higher in the OSCC specimens of patients with a more advanced clinical stage (P = 0.0063), lymph node metastasis (P = 0.0323), and venous invasion (P = 0.0380) compared to those without. The analysis of the public datasets revealed that VIRMA/KIAA1429 expression levels were higher in head and neck SCC than in normal mucosa, whereas immunohistochemistry revealed that VIRMA-expressing OSCC was associated with a significantly shorter disease-free survival (P = 0.0043) and was an independent poor prognostic factor (P = 0.0179).</p><p><strong>Conclusions: </strong>These results highlight the potential utility of RNA methylation and VIRMA expression for the diagnosis and treatment of OSCC.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"81"},"PeriodicalIF":2.4,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12226839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144559499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}