Diagn Pathol [JOURNAL]
Sun
200 papers
Novel immunohistochemical assay utilizing the INSM1 (SP493) antibody demonstrates high specificity and sensitivity in detecting primary neuroendocrine lung neoplasms.
Dvorak K, Gomez A, Sainz R
Diagn Pathol · 2025 Oct · PMID 41102713 · Full text
INTRODUCTION: About 15–20% of lung neoplasms are of neuroendocrine origin. In addition to evaluation of morphological features, these neoplasms can be identified by immunohistochemistry (IHC) using antibodies against neu...
INTRODUCTION: About 15–20% of lung neoplasms are of neuroendocrine origin. In addition to evaluation of morphological features, these neoplasms can be identified by immunohistochemistry (IHC) using antibodies against neuroendocrine markers such as synaptophysin, chromogranin A, and neural cell adhesion molecule, CD56. Recent studies have shown that insulinoma-associated protein 1 (INSM1) is increasingly used as a diagnostic marker for neoplasms of neuroendocrine origin, as it is highly sensitive and specific. The primary focus of this study was to evaluate the sensitivity and specificity of a recently developed assay that uses a new INSM1 (SP493) antibody for detecting primary neuroendocrine lung neoplasms and to compare this IHC assay with currently used neuroendocrine markers. METHOD: Tissue microarrays containing 391 lung neoplasms were stained with INSM1 (SP493) antibody, INSM1 (MRQ-70) antibody, CONFIRM anti-Synaptophysin (SP11) antibody, anti-Chromogranin A (LK2H10) antibody, and CD56 (MRQ-42) antibody on BenchMark ULTRA instruments using OptiView IHC DAB Detection Kit or ultraView Universal DAB Detection Kit using manufacturer’s recommended protocols. Sensitivity, specificity, and accuracy were calculated for each biomarker. RESULTS: The sensitivity and specificity of the new assay using INSM1 (SP493) antibody for detecting primary lung neoplasms with neuroendocrine differentiation were 96.8% and 92.3%, respectively. Comparable results were seen for the lung neoplastic cases stained with INSM1 (MRQ-70) antibody, yielding a sensitivity of 94.9% and specificity of 94.1%. In contrast, the anti-Chromogranin A (LK2H10) antibody and CD56 (MRQ-42) antibody showed considerably lower sensitivities. The sensitivity was 78.7% for the anti-Chromogranin A (LK2H10) antibody and 85.4% for the CD56 (MRQ-42) antibody. However, the specificities of anti-Chromogranin A (LK2H10) antibody and CD56 (MRQ-42) antibody were comparable with the specificity of the INSM1 (SP493) antibody [91.7% for anti-Chromogranin A (LK2H10) antibody, 90.4% for CD56 (MRQ-42) antibody]. The performance of the anti-Synaptophysin (SP11) antibody was suboptimal, with a sensitivity of 82.9% and a specificity of 87.6%. CONCLUSIONS: Overall, our data demonstrate that the IHC assay using the newly developed INSM1 (SP493) antibody is highly specific and sensitive for identifying primary neuroendocrine lung neoplasms.
Rare double primary carcinoma in ileocecal region: cecal tubular adenocarcinoma combined with appendiceal goblet cell adenocarcinoma.
Long A, Tian X, Luo S … +1 more , Wang J
Diagn Pathol · 2025 Oct · PMID 41094574 · Full text
BACKGROUND: Appendiceal goblet cell adenocarcinoma (GCA) is a rare malignant tumor originating from the appendiceal mucosa, with an insidious onset. Its biological behavior lies between that of a carcinoid tumor and an a...
BACKGROUND: Appendiceal goblet cell adenocarcinoma (GCA) is a rare malignant tumor originating from the appendiceal mucosa, with an insidious onset. Its biological behavior lies between that of a carcinoid tumor and an adenocarcinoma, and it has a relatively favorable prognosis but a high risk of long-term recurrence and metastasis. The coexistence of primary cecal tubular adenocarcinoma and appendiceal GCA is extremely rare, and poses challenges in diagnosis and treatment. CASE DEMONSTRATION: An 86-year-old male presented with a 2-month history of abdominal pain and diarrhea. Abdominal CT revealed thickening of the ascending colon wall, suggesting colon cancer. Laparoscopic right hemicolectomy was performed. Postoperative pathological examination confirmed primary cecal tubular adenocarcinoma combined with appendiceal goblet cell adenocarcinoma. Adjuvant chemotherapy was recommended, but the patient refused. Seven months later, lung metastasis was detected. Chemotherapy with "raltitrexed plus bevacizumab" was administered. During an 8-month follow-up, the patient remained in generally good condition. CONCLUSION: Appendiceal GCA is more common in middle-aged and elderly women and is associated with a good overall survival rate but a high risk of long-term recurrence and metastasis, especially in patients with distant metastases. The coexistence of appendiceal GCA and cecal tubular adenocarcinoma is exceedingly rare. This case report analyzes the clinical features, histological morphology, immunohistochemistry, and differential diagnosis of this condition to enhance understanding of this rare disease.
Low-grade NTRK-rearranged spindle cell neoplasm presenting as a colonic polyp and managed by polypectomy: a rare case report and literature review.
Evaristo G, Setia N, Wang P … +2 more , Pytel P, Alpert L
Diagn Pathol · 2025 Oct · PMID 41088444 · Full text
BACKGROUND: NTRK-rearranged spindle cell neoplasms constitute a novel, heterogeneous group of mesenchymal neoplasms originally described predominantly in soft tissue locations. They are commonly characterized by co-expre...
BACKGROUND: NTRK-rearranged spindle cell neoplasms constitute a novel, heterogeneous group of mesenchymal neoplasms originally described predominantly in soft tissue locations. They are commonly characterized by co-expression of S100 and CD34 immunostains and presence of NTRK fusions. While exceedingly rare, there are increasing reports of this lesion involving the gastrointestinal tract, presenting predominantly as large masses of the stomach, small bowel and colorectum. CASE PRESENTATION: We present a case of a 37-year-old male who on colonoscopy was found to have a one cm polyp of the sigmoid colon which was removed by hot snare polypectomy. Histologic examination revealed haphazardly arranged bland spindle cells with diffuse CD34 and S100 co-expression. A targeted Next-Generation RNA Fusion Assay identified a TPR::NTRK1 fusion, confirming the diagnosis of low-grade NTRK-rearranged spindle cell neoplasm. The mucosal and deep margins were free of tumor. In contrast to the previously reported cases, the patient was managed with polypectomy and active surveillance, and remained disease-free at 14 months follow up. CONCLUSION: This case contributes to the limited body of literature on gastrointestinal low-grade NTRK-rearranged spindle cell neoplasms and raises the possibility of endoscopic treatment consideration for carefully selected patients.
Thyroid pathology image classification via multi-scale feature fusion and multi-instance learning.
Li X, Liu G, Sun M … +9 more , Wang L, He B, Zhang K, Zhao S, Xie K, Jiang Y, Ying Y, Liao N, Yang X
Diagn Pathol · 2025 Oct · PMID 41088391 · Full text
BACKGROUND: The global incidence of thyroid cancer has significantly increased, while traditional pathological diagnosis remains time-consuming and expert-dependent. This study develops an auxiliary diagnostic tool desig...
BACKGROUND: The global incidence of thyroid cancer has significantly increased, while traditional pathological diagnosis remains time-consuming and expert-dependent. This study develops an auxiliary diagnostic tool designed to reduce the workload of pathologists and improve diagnostic accuracy. METHODS: Our study utilized 543 WSIs from Liuzhou Cancer Hospital for model development, employing a novel multi-feature fusion architecture that combines RetCCL, iBOT, and DINO embeddings. We systematically evaluated stain normalization and multi-scale analysis across four multiple-instance learning (MIL) frameworks: CLAM-SB (single-branch), CLAM-MB (multi-branch), DTFD (double-tier), and LA-MIL (location-aware). The method was rigorously validated on an independent set of 128 WSIs from Taizhou Cancer Hospital. RESULTS: The results show that stain normalization, multi-scale fusion, and multi-feature fusion significantly improve classification performance. In 10-fold cross-validation on the internal dataset, the system demonstrated significant improvements over the baseline RetCCL model: AUC (0.9900 vs. 0.9629), accuracy (0.9594 vs. 0.8951), with relative improvements of 2.8% in AUC and 7.2% in accuracy. Precision increased by 11.5% (0.9434 vs. 0.8461) and F1-score by 9.8% (0.9511 vs. 0.8665). On the external validation dataset, the model maintained robust performance with an AUC of 0.9584, accuracy of 0.9070, precision of 0.9247, and F1-score of 0.9348, confirming its reliability and applicability. CONCLUSIONS: We propose a weakly supervised MIL framework integrating multi-scale analysis and cross-model feature fusion for thyroid cancer diagnosis. Our method showed promising and consistent results across internal and external datasets. While further clinical validation and workflow integration are needed, the results suggest the potential of this approach to assist pathologists in diagnostic workflows, particularly in resource-constrained settings.
Primary malignant melanoma of the lung with C-KIT mutation and SRD5A3-KIT fusion.
Shen L, Guo P, Li M … +3 more , Jiang T, Han A, Pei X
Diagn Pathol · 2025 Oct · PMID 41088242 · Full text
BACKGROUND: Primary pulmonary malignant melanoma (PMML), an exceedingly rare aggressive neoplasm originating from bronchial mucosal melanocytes, is characterized by early metastatic dissemination and high mortality. Whil...
BACKGROUND: Primary pulmonary malignant melanoma (PMML), an exceedingly rare aggressive neoplasm originating from bronchial mucosal melanocytes, is characterized by early metastatic dissemination and high mortality. While over 95% of malignant melanomas are cutaneous in origin, fewer than 80 PMML cases have been documented globally. The molecular pathogenesis of PMML remains poorly defined, with less prior genomic studies utilizing Next-generation sequencing (NGS) reported to date. CASE PRESENTATION: A 68-year-old asymptomatic woman was referred to our institution in June 2022 after a routine health screening revealed a solitary pulmonary nodule. Chest CT demonstrated a 1.2 cm × 0.8 cm hypodense nodular opacity nodule in the posterior segment of the left upper lobe. The lesion remained stable during a 2-month observation period. Despite the absence of respiratory symptoms (e.g., cough, hemoptysis) or constitutional signs (e.g., weight loss), the patient elected surgical resection due to persistent malignancy concerns. CONCLUSION: Histopathological examination revealed tumor cells exhibiting epithelioid to spindle-shaped morphology, characterized by prominent nucleoli and intracytoplasmic melanin deposition (hematoxylin and eosin staining). Immunohistochemical analysis demonstrated diffuse and strong positivity for S-100, HMB-45, and Melan-A. Based on the histomorphological features and immunohistochemical profile, a diagnosis of malignant melanoma was established. NGS detected a somatic KIT exon 11 mutation (c.1727 T > C, p. Leu576Pro; variant allele frequency: 20.1%) and identified an SRD5A3-KIT gene fusion involving transcript variants NM_024592.4 (SRD5A3) and NM_000222.2 (KIT), with breakpoints in Exon 5 of SRD5A3 and Exon 6 of KIT. The fusion variant showed a somatic mutation frequency of 24.8%. These findings not only expand the molecular landscape of PMML but also suggest therapeutic opportunities through targeted kinase inhibition. This case underscores the critical role of integrated multimodal analysis (radiological-pathological-molecular) in characterizing rare malignancies.
A rare case of supernumerary and ectopic parathyroid adenoma in the parotid gland: diagnostic and surgical challenges.
Gervasi R, Piazzetta GL, Soluri G … +6 more , Scigliano C, Pelaia C, Lobello N, Allegra E, Chiarella E, Innaro N
Diagn Pathol · 2025 Oct · PMID 41039631 · Full text
INTRODUCTION: 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,...
INTRODUCTION: 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. CASE PRESENTATION: 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. DISCUSSION: 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. CONCLUSION: 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.
Multiple paragangliomas diagnosed in head, neck, and mediastinum: a case report.
Rafieian S, Amini H, Rezaei O … +2 more , Nozheh A, Yazdi NA
Diagn Pathol · 2025 Sep · PMID 41029826 · Full text
BACKGROUND: 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...
BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSION: 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.
Evaluating sensitivity of NGS-based mutation detection across diverse sample types in prostate cancer.
Jiang K, Dai Z, Chen J … +10 more , Gao Z, Tong H, Liu H, Huang G, Liu F, Ma Y, Pan E, Yin J, Yao L, Wang L
Diagn Pathol · 2025 Sep · PMID 41029752 · Full text
BACKGROUND: 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-gener...
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Gastric endophytic gastrointestinal stromal tumor (GIST) as a rare cause of gastroduodenal intussusception: case report and literature review.
Ji S, Chen W, Zhu B … +1 more , Pei M
Diagn Pathol · 2025 Sep · PMID 41024144 · Full text
OBJECTIVES: 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...
OBJECTIVES: 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. RESULTS: 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. CONCLUSIONS: 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.
Artificial Intelligence-driven image analysis for standardised programmed death-ligand 1 expression evaluation in non-small cell lung cancer.
Ge C, Shi Y, Wang W … +7 more , Zhang A, Huang M, Zhao F, Li A, Feng Z, Wang M, Wu H
Diagn Pathol · 2025 Sep · PMID 41013460 · Full text
BACKGROUND: 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...
BACKGROUND: 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). METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Fostering trust and interpretability: integrating explainable AI (XAI) with machine learning for enhanced disease prediction and decision transparency.
Agrawal R, Gupta T, Gupta S … +3 more , Chauhan S, Patel P, Hamdare S
Diagn Pathol · 2025 Sep · PMID 40999511 · Full text
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 adopt...
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.
Histopathological evaluation of abdominal aortic aneurysms with deep learning.
Kolbinger FR, El Nahhas OSM, Nackenhorst MC … +4 more , Brostjan C, Eilenberg W, Busch A, Kather JN
Diagn Pathol · 2025 Sep · PMID 40954491 · Full text
Computational analysis of histopathological specimens holds promise in identifying biomarkers, elucidating disease mechanisms, and streamlining clinical diagnosis. However, the application of deep learning techniques in...
Computational analysis of histopathological specimens holds promise in identifying biomarkers, elucidating disease mechanisms, and streamlining clinical diagnosis. However, the application of deep learning techniques in vascular pathology remains underexplored. Here, we present a comprehensive evaluation of deep learning-based approaches to analyze digital whole-slide images of abdominal aortic aneurysm samples from 369 patients from three European centers. Deep learning demonstrated robust performance in predicting inflammatory characteristics, particularly in the adventitia, as well as fibrosis grade and remaining elastic fibers in the tunica media from Hematoxylin and Eosin (HE)-stained slides (mean AUC > 0.70 in two external test cohorts). Models trained on Elastica van Gieson (EvG)-stained slides overall performed similar to models trained on HE-stained WSI for detection of calcification and fibrosis. For prediction of inflammatory parameters, HE-trained models performed considerably superior to EvG-trained models. Overall, this study represents the first comprehensive evaluation of computational pathology in vascular disease and has the potential to contribute to improved understanding of abdominal aortic aneurysm pathophysiology and personalization of treatment strategies, particularly when integrated with radiological phenotypes and clinical outcomes.
Development and validation of a gastric cancer prognostic model utilizing lymphatic endothelial cell-related genes.
Sun S, Zhang J, Guo W
Diagn Pathol · 2025 Sep · PMID 40926266 · Full text
BACKGROUND: 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...
BACKGROUND: 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. METHODS: 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). RESULTS: 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. CONCLUSIONS: 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. CLINICAL TRIAL NUMBER: Not applicable.
Prognostic impact of RPL15 overexpression in intrahepatic cholangiocarcinoma: a marker of aggressive tumor behavior.
Wang WC, Huang CJ, Hsu HP … +9 more , Kuo YH, Ong KH, Sun DP, Tian YF, Chou CL, Chan TC, Hsing CH, Li WS, He HL
Diagn Pathol · 2025 Sep · PMID 40890856 · Full text
BACKGROUND: 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 reveale...
BACKGROUND: 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. METHODS: 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). RESULTS: 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). CONCLUSIONS: 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.
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.
Ma S, Xia Y, Wang M … +6 more , Luo Z, Chen L, Meng X, Stuart S, Wang E, Yang LH
Diagn Pathol · 2025 Sep · PMID 40890751 · Full text
RATIONALE: 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...
RATIONALE: 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). PATIENT CONCERNS: 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. DIAGNOSIS: 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. INTERVENTIONS: The patient underwent 4 rounds of clinical tumor volume (CTV) radiotherapy. OUTCOMES: The patient was followed up for 22 months with interval nasopharyngeal MRI and lung CT scan, with no sign of tumor recurrence or metastasis. LESSONS: 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.
Concomitant gastric cancer and neuroendocrine tumours in the stomach: a rare case series of 3 patients and a literature review.
Liu L, Ding W, Wang Z … +2 more , Wang G, Er L
Diagn Pathol · 2025 Aug · PMID 40877869 · Full text
BACKGROUND: Concomitant gastric cancer and neuroendocrine tumours in the stomach are very rare, and their clinical characteristics, pathogenesis and treatment principles remain poorly understood. CASE PRESENTATION: We pr...
BACKGROUND: Concomitant gastric cancer and neuroendocrine tumours in the stomach are very rare, and their clinical characteristics, pathogenesis and treatment principles remain poorly understood. CASE PRESENTATION: We present three cases of concomitant gastric cancer and neuroendocrine tumours in the stomach, all of which were pathologically diagnosed through endoscopy and biopsy. One patient received total gastrectomy, while the other two patients underwent endoscopic resection. Moreover, the diagnostic characteristics and treatment of synchronous gastric cancer and neuroendocrine tumours are summarized and analysed in combination with a study of 8 cases. CONCLUSIONS: G1 NET may be more likely to be concomitant with gastric cancer. Endoscopic resection is the preferred treatment for patients with synchronous early gastric cancer and NETs.
Bilateral, multicystic fumarate hydratase-deficient renal cell carcinoma in patient with hereditary leiomyomatosis & renal cell carcinoma syndrome: A case report and review of the literature.
E Rubrecht A, H Aldrink J, Warren P … +5 more , T Mathew M, Tsuchiya K, Moulas N, Prasad V, Shah N
Diagn Pathol · 2025 Aug · PMID 40859301 · Full text
BACKGROUND: Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an autosomal dominant tumor predisposition syndrome with germline fumarate hydratase (FH) pathogenic variants. We describe the unusual cl...
BACKGROUND: Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an autosomal dominant tumor predisposition syndrome with germline fumarate hydratase (FH) pathogenic variants. We describe the unusual clinical presentation, morphologic, and immunohistochemical features of bilateral renal cell carcinoma (RCC) occurring in polycystic kidneys in a 15-year-old male with HLRCC. CASE PRESENTATION: The patient was diagnosed with bilateral polycystic kidneys at 1-year old. At 8-years old he was diagnosed with cutaneous leiomyomas, prompting germline testing which revealed heterozygous variant (c.1301G > A) in the FH gene. Serial imaging identified interval enlargement of several bilateral renal lesions with solid components. Biopsy of a right solid lesion revealed an oncocytic neoplasm. He underwent left total nephrectomy and right partial nephrectomy, revealing numerous bilateral solid and cystic lesions, some with papillary excrescences. Histologic evaluation revealed large cells with eosinophilic to clear cytoplasm and large nuclei with occasional nuclear pseudoinclusions arranged in variable architectural patterns including papillary, tubular, tubulocystic, microcystic and solid. Large cysts were lined by varying thickness of neoplastic cells. By immunohistochemistry, lesional cells were positive for 2-succinocysteine (2SC), TFE3, PAX8 and AMACR, showed retained SDHB, variable FH, and were negative for Cathepsin K, CK20, and CK7. An RNA fusion panel (including TFE3) was negative. Multiple microscopic renal leiomyomas were also present. CONCLUSIONS: Multicystic kidney disease has been previously reported in HLRCC but is not currently included in the WHO classification. Bilateral involvement may mimic polycystic kidney disease and cysts may represent precursor lesions. TFE3-positivity raises the possibility of translocation RCC and is a diagnostic pitfall.
Alveolar solitary fibrous tumor: an uncommon morphological form.
Song L, Lin DL, Zhang ZF … +2 more , Wang Z, Zong YY
Diagn Pathol · 2025 Aug · PMID 40859272 · Full text
Solitary fibrous tumor (SFT) is a fibroblastic tumor characterized by a prominent staghorn vasculature and collagen deposition. However, little is known about SFTs with alveolar structures. Herein, we present a case of a...
Solitary fibrous tumor (SFT) is a fibroblastic tumor characterized by a prominent staghorn vasculature and collagen deposition. However, little is known about SFTs with alveolar structures. Herein, we present a case of an alveolar pattern SFT in a 55-year-old woman. The tumor was present in the lumbosacral spinal canal and showed an alveolar architecture composed of ovoid to spindle-shaped cells. Immunohistochemical examination showed that the tumor cells were positive for STAT6 (nuclear expression), CD34, CD99, and Bcl-2, but negative for cytokeratins (CK-pan and AE1/AE3), EMA, GFAP, CD31, progesterone receptor, S-100 protein, and smooth muscle actin. Furthermore, NAB2::STAT6 fusion was detected using DNA-based next-generation sequencing, which established the diagnosis of SFT at a molecular level. The present case expands the morphological categories of SFT.
Implications of imaging, morphologic, and immunohistochemical features of pancreatic perivascular epithelioid cell tumor: case report and comprehensive literature review.
He P, Yang C, Chen K … +2 more , Yu J, Li Y
Diagn Pathol · 2025 Aug · PMID 40855435 · Full text
BACKGROUND: Perivascular epithelioid cell tumor (PEComa) of the pancreas is a rare tumor of pancreatic mesenchymal origin with malignant potential. Critical to appropriate clinical management is determining whether the t...
BACKGROUND: Perivascular epithelioid cell tumor (PEComa) of the pancreas is a rare tumor of pancreatic mesenchymal origin with malignant potential. Critical to appropriate clinical management is determining whether the tumor is benign or malignant. Because of its rarity, morphologic and histologic characteristics and limited patient follow-up of pancreatic PEComa have precluded precise definition of malignancy. However, because malignant pancreatic PEComa appears to be distinctly uncommon, further improvements characterizing its preoperative imaging features could facilitate use of diagnostic endoscopic ultrasound biopsy and perhaps ablative treatment. This paper presents a case of pancreatic PEComa treated at the Affiliated Hospital of North Sichuan Medical College and includes a systematic literature review with special emphasis on the key imaging features of pancreatic PEComa. CASE PRESENTATION: In February 2024, a woman in her 50s was admitted to the hospital with subxiphoid discomfort. Magnetic resonance imaging (MRI) of the upper abdomen revealed a round, solid mass in the pancreatic uncinate process. The patient underwent pancreatic mass resection and pancreaticojejunostomy, and the diagnosis of pancreatic PEComa was confirmed through pathological examination. CONCLUSIONS: Imaging examinations appear valuable for a tentative diagnosis of pancreatic PEComa. Key imaging features include its frequent occurrence in the pancreatic head, typically small to moderate size, "pushing" as opposed to infiltrative growth pattern with well-defined margins, and the presence of a capsule. The lesions are usually solid and often exhibit mild to moderate heterogenous enhancement during the arterial phase, with reduced enhancement in the portal and delayed phases.
Cytological diagnosis of dysgerminoma associated with pregnancy via peritoneal effusion analysis: a case report.
Huang L, Xu L
Diagn Pathol · 2025 Aug · PMID 40855343 · Full text
BACKGROUND: Dysgerminoma, a uncommon malignant neoplasm originating from primitive ovarian germ cells, is exceptionally rare during pregnancy. While several studies have documented dysgerminoma diagnosis via peritoneal e...
BACKGROUND: Dysgerminoma, a uncommon malignant neoplasm originating from primitive ovarian germ cells, is exceptionally rare during pregnancy. While several studies have documented dysgerminoma diagnosis via peritoneal effusion cytology, no cases identified during pregnancy have been reported to date. This study presents the first reported case of dysgerminoma diagnosed through peritoneal effusion cytology in a pregnant patient. CASE PRESENTATION: A 27-year-old pregnant woman presented to our hospital with an early intrauterine pregnancy and a right adnexal mass detected on B-ultrasound at a local hospital. Cytological evaluation of the peritoneal effusion revealed a polymorphic cell population dominated by discrete large tumor cells mixed with reactive lymphocytes and histiocytes. These tumor cells exhibited moderate to abundant eosinophilic or vacuolated cytoplasm with well-defined borders. Most had round or oval nuclei with high nuclear-to-cytoplasmic (N/C) ratios, granular chromatin with uneven distribution, and distinct nucleoli visible in some cells. While a subset of large cells showed irregular nuclear contours and angular appearances. Immunocytochemistry (ICC) results of cell block (CB) showed positive staining for SALL4, CD117, OCT3/4, PLAP, and D2-40, but negative staining for LCA, CD30, EMA, CK-P, CR, and SF-1. The final diagnosis of dysgerminoma was made by integrating peritoneal effusion cytology, cell block analysis, and ICC results. The patient underwent right adnexectomy and subsequently delivered a healthy female infant at 36 + 4 weeks of gestation. Four-year postoperative follow-up showed no evidence of disease recurrence. CONCLUSION: This report describes the cytopathological features of dysgerminoma in peritoneal effusion, specifically the presence of discrete large tumor cells with hyperchromatic nuclei and prominent nucleoli. Cytopathologists should maintain a high index of suspicion for this entity, particularly in young patients, and adopt a comprehensive diagnostic approach including cytomorphological assessment, CB examination, and immunocytochemical analysis to make an accurate diagnosis.
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