Diagnostic Pathology最新文献

{"title":"A rare case of supernumerary and ectopic parathyroid adenoma in the parotid gland: diagnostic and surgical challenges.","authors":"R Gervasi, G L Piazzetta, G Soluri, C Scigliano, C Pelaia, N Lobello, E Allegra, E Chiarella, N Innaro","doi":"10.1186/s13000-025-01712-4","DOIUrl":"https://doi.org/10.1186/s13000-025-01712-4","url":null,"abstract":"<p><strong>Introduction: </strong>Primary hyperparathyroidism (PHPT) is a prevalent endocrine disorder characterized by elevated parathyroid hormone (PTH) levels and hypercalcemia, most commonly caused by solitary adenomas. Double adenomas, particularly those arising in ectopic and supernumerary glands, represent a rare diagnostic and surgical challenge.</p><p><strong>Case presentation: </strong>We report the case of a 64-year-old woman presenting with symptomatic PHPT. Preoperative imaging demonstrated uptake consistent with two hyperfunctioning parathyroid adenomas, including a rare supernumerary ectopic adenoma in lesion the right parotid region. Definitive diagnosis and surgical planning were guided by 18 F-fluorocholine PET/CT, which proved superior to conventional modalities.</p><p><strong>Discussion: </strong>This case underscores the critical role of advanced imaging techniques in the localization of parathyroid adenomas, particularly in anatomically atypical sites. The combination of functional and anatomical imaging with 18 F-fluorocholine PET/CT enabled accurate detection of both lesions and informed a multidisciplinary surgical approach.</p><p><strong>Conclusion: </strong>Integration of 18 F-fluorocholine PET/CT into the diagnostic workflow enhances the precision of parathyroid adenoma localization, especially in rare ectopic presentations. This contributes to tailored surgical strategies and improved patient outcomes. Histopathological examination confirmed two distinct adenomas, including one embedded in the parotid gland, supporting the diagnosis of a supernumerary ectopic parathyroid adenoma.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"110"},"PeriodicalIF":2.3,"publicationDate":"2025-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple paragangliomas diagnosed in head, neck, and mediastinum: a case report.","authors":"Shahab Rafieian, Hesam Amini, Omid Rezaei, Aysan Nozheh, Niloofar Ayoobi Yazdi","doi":"10.1186/s13000-025-01710-6","DOIUrl":"10.1186/s13000-025-01710-6","url":null,"abstract":"<p><strong>Background: </strong>Paragangliomas are neuroendocrine tumors that often present as solitary tumors. In this case report, we describe a patient with multiple head and neck paraganglioma associated with a mediastinal paraganglioma.</p><p><strong>Case presentation: </strong>The patient was a 46-year-old male with a history of surgical removal of a mass from the right side of the neck, who presented with dysphonia lasting two months, hoarseness, vague chest pain, and unilateral ptosis. CT angiography of the carotid arteries and thoracic aorta revealed multiple findings, including a well-defined enhancing mass measuring 33 × 39 mm in the aorto-pulmonary prevascular space, a grade I carotid body tumor on the left side of the neck, vagal paragangliomas on the right side of the neck, and a glomus jugulare tumor on the right side. These findings were collectively suggestive of multiple paragangliomas. The patient subsequently underwent surgical resection of the mediastinal tumor, and pathological examination confirmed the diagnosis of paraganglioma.</p><p><strong>Conclusion: </strong>This report details a rare case of paraganglioma with multiple head, neck, and mediastinal involvement, emphasizing the need for thorough evaluation and genetic assessment in atypical presentations.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"109"},"PeriodicalIF":2.3,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145198775","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":"Evaluating sensitivity of NGS-based mutation detection across diverse sample types in prostate cancer.","authors":"Kui Jiang, Zhihong Dai, Jiaqiang Chen, Ziping Gao, Heyao Tong, Hongruo Liu, Gena Huang, Fang Liu, Ya Ma, Evanki Pan, Jiani Yin, Lulu Yao, Liang Wang","doi":"10.1186/s13000-025-01697-0","DOIUrl":"10.1186/s13000-025-01697-0","url":null,"abstract":"<p><strong>Background: </strong>Prostate cancer (PCa) is one of the most common malignancies affecting men, with primary treatments involving surgery, radiotherapy, and hormonal therapy. The introduction of precision medicine and next-generation sequencing (NGS) has profoundly influenced the clinical management of PCa, particularly by enabling the assessment of genetic alterations that guide treatment decisions. Liquid biopsy using diverse sample types, including plasma, urine, and semen, offers non-invasive alternatives to tissue biopsies. This study sought to compare the performance of NGS-based mutation detection across various sample types in PCa patients.</p><p><strong>Methods: </strong>Thirty-seven PCa patients, diagnosed with intermediate to advanced stages (II-IV), were enrolled. All collected samples, including tissues (n = 34), plasma (n = 37), urine (n = 32), and seminal fluids (n = 9), underwent targeted NGS of 437 cancer-related genes. The detection sensitivity, mutational landscape, and maximum variant allele frequencies (MVAFs) were compared across different sample types.</p><p><strong>Results: </strong>Tissue samples, serving as the gold standard, achieved a 100% mutation detection rate. Plasma and urine samples demonstrated high detection sensitivities, reaching 67.6% and 65.6%, respectively, while semen samples showed a lower detection rate of 33.3%. Mutations in FOXA1, SPOP, and TP53 were commonly detected across most sample types with comparable prevalence. AR mutations were observed with similar frequencies in plasma and semen samples, but were absent in tissue and urine samples. The average MVAFs were at similar levels among tissue, plasma, urine, and semen, although urine sediment samples exhibited the lowest MVAFs. Advanced disease stages correlated with increased circulating tumor DNA (ctDNA) detection in both plasma and urine samples. No significant survival advantage associated with ctDNA negativity was observed, likely due to the small sample size.</p><p><strong>Conclusions: </strong>This study validates the utility of urine and plasma samples as non-invasive and sensitive liquid biopsy options for PCa, showing comparable ctDNA detection rates. Seminal fluid samples also demonstrate potential, despite current sampling challenges. These findings offer insights into the advantages of different sampling methods for PCa detection and reinforce the clinical utility of liquid biopsies in PCa management.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"108"},"PeriodicalIF":2.3,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12486888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145198789","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":"Gastric endophytic gastrointestinal stromal tumor (GIST) as a rare cause of gastroduodenal intussusception: case report and literature review.","authors":"Shengwei Ji, Weijie Chen, Beiwei Zhu, Maowei Pei","doi":"10.1186/s13000-025-01709-z","DOIUrl":"10.1186/s13000-025-01709-z","url":null,"abstract":"<p><strong>Objectives: </strong>To report a rare case of adult gastroduodenal intussusception caused by a gastric gastrointestinal stromal tumor (GIST) and review its diagnostic and therapeutic approaches.  METHODS: We present a 68-year-old female with gastroduodenal intussusception secondary to a gastric GIST, diagnosed through combined endoscopy and computed tomography (CT). A systematic PubMed review identified 28 published cases, which were analysis for clinical presentation, imaging findings, and management strategies.</p><p><strong>Results: </strong>The patient initially underwent laparoscopic-endoscopic cooperative surgery, which was unsuccessful and required conversion to open partial gastrectomy. Intraoperative findings confirmed a fundus mass extending into the duodenum, with histopathology confirming a low-risk GIST. Among the reviewed cases, all involved GISTs of gastric origin. Diagnostic evaluation consistently relied on CT and endoscopy, with surgical approaches varying based on tumor characteristics.</p><p><strong>Conclusions: </strong>Gastric GISTs are a rare but clinically significant cause of adult gastroduodenal intussusception, typically necessitating surgical intervention. Multimodal imaging, particularly CT, plays a crucial role in preoperative diagnosis, while histopathological examination remains essential for definitive diagnosis and risk stratification. Treatment should be individualized based on tumor size, location, and patient factors.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"107"},"PeriodicalIF":2.3,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12482829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191352","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":"Artificial Intelligence-driven image analysis for standardised programmed death-ligand 1 expression evaluation in non-small cell lung cancer.","authors":"Chong Ge, Yi Shi, Wei Wang, Anli Zhang, Mengqi Huang, Fang Zhao, Ao Li, Zhenzhong Feng, Minghui Wang, Haibo Wu","doi":"10.1186/s13000-025-01707-1","DOIUrl":"10.1186/s13000-025-01707-1","url":null,"abstract":"<p><strong>Background: </strong>Accurate assessment of programmed death-ligand 1 (PD-L1) immunohistochemical (IHC) expression is critical for immunotherapy in patients with non-small cell lung cancer (NSCLC). Yet, interpreting its staining is challenging, time-consuming, and causes inter-observer variability, potentially mis-stratifying patients. This necessitates the development of an artificial intelligence (AI) model to effectively quantify PD-L1 expression. Hence, we developed an AI-based deep-learning approach to automatically assess PD-L1 expression in NSCLC using IHC 22C3 assay-stained whole slide images (WSIs).</p><p><strong>Methods: </strong>A total of 706 patients with NSCLC were included in this study and 1212 WSIs were collected from three distinct study cohorts. We accurately matched the hematoxylin and eosin-stained images of the internal dataset with the IHC WSIs. Foreground regions containing tumor tissue were extracted from WSIs, and a multi-granular multiple-instance learning approach employing instance embeddings with coarse and fine granularities was implemented to extract patch-level morphological features. A multi-grained expression interpreter-based model aggregated these features to stratify PD-L1 expression status.</p><p><strong>Results: </strong>The model showed strong interpretive ability in all three cohorts and wide applicability to different specimen types. The macro-average area under the receiver operating characteristic curve (AUC) were 0.940/0.915/0.944 for surgical specimens, 0.955/0.844/0.865 for biopsy specimens, and 0.901/0.958/0.883 for metastases.</p><p><strong>Conclusion: </strong>This study emphasizes the potential benefits of deep learning in automatically, rapidly, and accurately inferring PD-L1 expression from complex IHC images. It also showcases how AI frameworks can improve routine digital pathology workflows in current PD-L1 detection methods.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"106"},"PeriodicalIF":2.3,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145174078","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":"Fostering trust and interpretability: integrating explainable AI (XAI) with machine learning for enhanced disease prediction and decision transparency.","authors":"Renuka Agrawal, Tawishi Gupta, Shaurya Gupta, Sakshi Chauhan, Prisha Patel, Safa Hamdare","doi":"10.1186/s13000-025-01686-3","DOIUrl":"10.1186/s13000-025-01686-3","url":null,"abstract":"<p><p>Medical healthcare has advanced substantially due to advancements in Artificial Intelligence (AI) techniques for early disease detection alongside support for clinical decisions. However, a gap exists in widespread adoption of results of these algorithms by public due to black box nature of models. The undisclosed nature of these systems creates fundamental obstacles within medical sectors that handle crucial cases because medical practitioners needs to understand the reasoning behind the outcome of a particular disease. A hybrid Machine Learning (ML) framework integrating Explainable AI (XAI) strategies that will improve both predictive performance and interpretability is explored in proposed work. The system leverages Decision Trees, Naive Bayes, Random Forests and XGBoost algorithms to predict the medical condition risks of Diabetes, Anaemia, Thalassemia, Heart Disease, Thrombocytopenia within its framework. SHAP (SHapley Additive exPlanations) together with LIME (Local Interpretable Model-agnostic Explanations) adds functionality to the proposed system by displaying important features contributing to each prediction. The framework upholds an accuracy of 99.2% besides the ability to provide understandable explanations for interpretation of model outputs. The performance combined with interpretability from the framework enables clinical practitioners to make decisions through an understanding of AI-generated outputs thereby reducing distrust in AI-driven healthcare.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"105"},"PeriodicalIF":2.3,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12465982/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145148285","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":"Histopathological evaluation of abdominal aortic aneurysms with deep learning.","authors":"Fiona R Kolbinger, Omar S M El Nahhas, Maja Carina Nackenhorst, Christine Brostjan, Wolf Eilenberg, Albert Busch, Jakob Nikolas Kather","doi":"10.1186/s13000-025-01684-5","DOIUrl":"10.1186/s13000-025-01684-5","url":null,"abstract":"","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"104"},"PeriodicalIF":2.3,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12439358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069231","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":"Development and validation of a gastric cancer prognostic model utilizing lymphatic endothelial cell-related genes.","authors":"Sijie Sun, Jieyun Zhang, Weijian Guo","doi":"10.1186/s13000-025-01683-6","DOIUrl":"10.1186/s13000-025-01683-6","url":null,"abstract":"<p><strong>Background: </strong>Gastric cancer is one of the most common cancers worldwide, with its prognosis influenced by factors such as tumor clinical stage, histological type, and the patient's overall health. Recent studies highlight the critical role of lymphatic endothelial cells (LECs) in the tumor microenvironment. Perturbations in LEC function in gastric cancer, marked by aberrant activation or damage, disrupt lymphatic fluid dynamics and impede immune cell infiltration, thereby modulating tumor progression and patient prognosis. Hence, we aimed to construct a prognostically discriminative model group in LECs-related factors.</p><p><strong>Methods: </strong>Gene expression and clinical data of gastric cancer patients were obtained from The Cancer Genome Atlas (TCGA), Gene Expression Omnibus (GEO), and Fudan University Shanghai Cancer Center (FUSCC). Using the Wilcoxon test, we assessed the relationship between LECs, angiogenesis, and the immunological milieu. Differentially expressed and prognostically significant LEC-associated genes were identified through \"limma\" R package-assisted analysis coupled with univariate Cox analysis. A prognostic model was developed, and LEC-associated gene signatures were refined through least absolute shrinkage and selection operator (LASSO)-Cox regression. Subsequently, the prognostic potential of this model was evaluated using ROC (receiver operating characteristic) curve analysis, Kaplan-Meier survival curve analysis and decision curve analysis (DCA).</p><p><strong>Results: </strong>LECs exhibited association with angiogenesis, immune cell infiltration, immune escape, and epithelial-mesenchymal transition (EMT). Utilizing an 18-gene signature, gastric cancer patients from TCGA and GEO cohorts were stratified into high- risk and low-risk groups, with the former showing significantly poorer overall survival. Leveraging this gene signature, we designed a LECs-related gastric cancer prognostic model, demonstrating superior performance indicated by the area under the ROC curve (AUC) compared to existing models. Moreover, the nomogram and DCA underscored the clinical utility of our model in predicting the prognosis of GC patients.</p><p><strong>Conclusions: </strong>Our prognostic signature, based on 18 LECs-related genes, holds promise for refining overall survival prediction in gastric cancer patients, offering a valuable tool for clinical decision-making.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"103"},"PeriodicalIF":2.3,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029276","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":"Prognostic impact of RPL15 overexpression in intrahepatic cholangiocarcinoma: a marker of aggressive tumor behavior.","authors":"Wen-Ching Wang, Chien-Jui Huang, Han-Ping Hsu, Yu-Hsuan Kuo, Khaa Hoo Ong, Ding-Ping Sun, Yu-Feng Tian, Chia-Ling Chou, Ti-Chun Chan, Chung-Hsi Hsing, Wan-Shan Li, Hong-Lin He","doi":"10.1186/s13000-025-01699-y","DOIUrl":"10.1186/s13000-025-01699-y","url":null,"abstract":"<p><strong>Background: </strong>Overexpression of ribosomal proteins has been found in several cancer types and has an important role in cell proliferation and tumorigenesis. Analysis of the expression profiles of cholangiocarcinoma revealed that ribosomal protein L15 (RPL15) was significantly upregulated in cancer tissues compared to surrounding liver and biliary tissues. Thus, we tried to investigate the role of RPL15 in intrahepatic cholangiocarcinoma.</p><p><strong>Methods: </strong>The expression of RPL15 in intrahepatic cholangiocarcinoma was assessed using immunohistochemistry. The relationships between RPL15 expression levels and clinicopathological parameters were analyzed, along with investigating its prognostic significance in overall survival (OS), disease-specific survival (DSS), local recurrence-free survival (LRFS) and metastasis-free survival (MeFS).</p><p><strong>Results: </strong>In the cohort comprising 182 patients with intrahepatic cholangiocarcinoma, high expression of RPL15 was significantly associated with advanced tumor (pT) stage (P = 0.005) and high histological grade (P = 0.018). In univariate analyses, overexpression of RPL15 predicted worse DSS (P = 0.0001), LRFS (P < 0.0001) and MeFS (P < 0.0001), but not OS (P = 0.3960). Multivariate analyses revealed that RPL15 overexpression independently predicted worse DSS (P = 0.039), LRFS (P < 0.001) and MeFS (P < 0.001).</p><p><strong>Conclusions: </strong>Overexpression of RPL15 was identified as an adverse prognostic factor predicting worse outcomes in intrahepatic cholangiocarcinoma. RPL15 could serve as a potential therapeutic target to aid in developing new treatment strategies.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"101"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12400670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946619","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":"SMARCB1 (INI1)-deficient sinonasal carcinoma with yolk sac differentiation, a case of long-term clinical remission after multiple rounds of radiotherapy-a case report and literature review.","authors":"Shuang Ma, Yuxin Xia, Minghui Wang, Zhongshan Luo, Lan Chen, Xiangyun Meng, Sophie Stuart, Endi Wang, Lian-He Yang","doi":"10.1186/s13000-025-01705-3","DOIUrl":"10.1186/s13000-025-01705-3","url":null,"abstract":"<p><strong>Rationale: </strong>SMARCB1 (INI1) deficient sinonasal carcinoma is a subtype of Switch/Sucrose nonfermentable (SWI/SNF) complex deficient sinonasal carcinoma, which is distinct from sinonasal undifferentiated carcinoma (SNUC) in 5th edition of the WHO classification of head and neck tumors. It commonly shows basaloid, eosinophilic, oncocytoid or rhabdoid morphology. However, it can exhibit yolk sac like differentiation in very rare cases, with associated SALL4, GPC-3 and CDX2 and AFP expression, which can lead to the misdiagnosis of primary nasopharyngeal yolk sac tumor (YST).</p><p><strong>Patient concerns: </strong>A 58-year-old male patient with right nasal cavity mass, he complained for persistent right-sided nasal congestion for 3 months, accompanied by decreased sense of smell and protrusion of the right eyeball.</p><p><strong>Diagnosis: </strong>Histology showed tumor cells with glandular, large cystic, and microcystic architectural arrangement. Immunohistochemically, the tumor cells expressed SALL-4 and GPC-3. The findings supported obvious yolk sac tumor like features. However, the absence of INI-1 expression confirmed the diagnosis of INI-1 deficient sinonasal carcinoma.</p><p><strong>Interventions: </strong>The patient underwent 4 rounds of clinical tumor volume (CTV) radiotherapy.</p><p><strong>Outcomes: </strong>The patient was followed up for 22 months with interval nasopharyngeal MRI and lung CT scan, with no sign of tumor recurrence or metastasis.</p><p><strong>Lessons: </strong>Our case suggests that INI1-deficient sinonasal carcinoma with yolk sac differentiation is an important differential diagnosis of primary nasopharyngeal yolk sac tumor, which may have favorable disease-free survival with adjuvant radiotherapy alone.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"102"},"PeriodicalIF":2.3,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12400701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144946607","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}