Diagn Pathol [JOURNAL]
Sun
200 papers
The clinical value of the EpCAM biomarker and its association with immune cell infiltration in bladder cancer.
Nedjadi T, Ahmed ME, Ansari HR … +3 more , Aouabdi S, Samkari A, Al-Maghrabi J
Diagn Pathol · 2025 Aug · PMID 40855306 · Full text
BACKGROUND: Bladder cancer is characterized by its heterogeneous nature and high propensity for recurrence and progression. The absence of reliable diagnostic and prognostic biomarkers to accurately identify high-risk pa...
BACKGROUND: Bladder cancer is characterized by its heterogeneous nature and high propensity for recurrence and progression. The absence of reliable diagnostic and prognostic biomarkers to accurately identify high-risk patients further complicates the clinical management of the disease. MOC-31, an antibody that targets epithelial cell adhesion molecule (EpCAM), is utilized to distinguish between mesothelioma and metastatic cancer, but its clinical utility, prognostic value and functional dynamics in bladder cancer have yet to be verified. METHODS: A comprehensive analysis of EpCAM expression and its associations with key clinicopathological parameters was performed via The Cancer Genome Atlas (TCGA). Additionally, we retrospectively assessed EpCAM expression in our bladder cancer cohort using MOC-31 antibody and examined its prognostic value and correlation with clinicopathological features. The cBioPortal, STRING and TIMER databases were used to explore the interactions between EpCAM expression, immune cell infiltration and immune checkpoint genes. RESULTS: The difference in EpCAM expression varied widely across various cancer types and was strongly correlated with advanced cancer stage. EpCAM staining with MOC-31 exhibited membranous positivity in 51.7% of the analysed cohort. Kaplan-Meier survival analysis revealed a discernible trend suggesting a poorer prognosis for patients with low EpCAM expression than for those with high EpCAM expression. Protein-protein interaction demonstrated that EFGR, HER2 and Claudin-7 are key EpCAM interactors. A strong association was observed between EpCAM expression and immune cell infiltration as well as immune-related genes. CONCLUSION: This study highlights the prognostic value of EpCAM in bladder cancer, revealing a strong link between EpCAM expression and disease pathogenesis. These results underscore the need for further research to validate these findings and explore the significance of EpCAM as a therapeutic target in managing bladder cancer.
PD-1 and PD-L1 expression in molecular subtypes of muscle-invasive bladder cancer: immunohistochemical characterization and correlation with clinicopathological features.
Hooshmand F, Mokhtari M, Aminnia S … +3 more , Dashtestani A, Rezvani AR, Khorraminejad-Shirazi M
Diagn Pathol · 2025 Aug · PMID 40855304 · Full text
INTRODUCTION: Muscle-invasive bladder cancer (MIBC) is a heterogeneous disease with variable outcomes, necessitating practical classification systems. Molecular subtyping using immunohistochemical (IHC) markers offers a...
INTRODUCTION: Muscle-invasive bladder cancer (MIBC) is a heterogeneous disease with variable outcomes, necessitating practical classification systems. Molecular subtyping using immunohistochemical (IHC) markers offers a cost-effective approach for therapeutic guidance and assessing survival. Moreover, MIBC molecular subclassification provides a practical approach for guiding immune checkpoint inhibitor therapy. METHODS: We evaluated 124 MIBC cases using IHC markers GATA3, CK5/6, and p16. Cases were classified as luminal (GATA3+, CK5/6-), basal (GATA3-, CK5/6+), or other (GATA3-, CK5/6-). Luminal cases were further subdivided into luminal unstable (LumU; p16+) and luminal papillary (LumP; p16-). Clinicopathological characteristics of MIBC molecular subtypes were also assessed. PD-1 and PD-L1 expression were evaluated relative to clinicopathological features and MIBC subtypes. RESULTS: In our study, 36.2% of the cases were LumU, 27.6% LumP, and 24.8% basal. The basal subtype generally shows a significantly higher tumor stage (p < 0.05). PD-1 was expressed in 70.5% of cases, with the highest expression in LumU (84.21%). PD-1 expression was significantly higher in the luminal compared to the basal subtype (82.1% vs. 53.8%, p < 0.01). PD-L1, expressed in 40% of cases, was significantly elevated in stage III and considerably higher in basal than luminal subtype (57.7% vs. 34.3%, p < 0.05). CONCLUSION: MIBCs were practically subclassified into LumU, LumP, basal, and other subtypes using three IHC markers. PD-1 expression was higher in the luminal subtype, while PD-L1 was predominantly elevated in the basal subtype. These findings highlight the potential of IHC-based subtyping to guide prognosis and treatment in MIBCs.
Uterine leiomyoma-like inflammatory myofibroblastic tumour with a rare ALK::SYN3 fusion: a clinicopathologic and molecular analysis.
Ma C, Wei X, Chen Z … +5 more , Hao X, Sun Y, Zi J, Chu C, Zhang L
Diagn Pathol · 2025 Aug · PMID 40804412 · Full text
Uterine inflammatory myofibroblastic tumour (IMT) is a relatively rare mesenchymal tumour of the uterus, with recurrence and metastasis rates of 25% and 2%, respectively. As IMT frequently harbours ALK gene rearrangement...
Uterine inflammatory myofibroblastic tumour (IMT) is a relatively rare mesenchymal tumour of the uterus, with recurrence and metastasis rates of 25% and 2%, respectively. As IMT frequently harbours ALK gene rearrangements, some patients may benefit from treatment with tyrosine kinase inhibitors, making accurate identification of this tumour essential. Here, we report the case of a 38-year-old female patient with a tumour clinically resembling uterine leiomyoma. Microscopically, the spindled tumour cells were arranged in orderly intersecting fascicles, accompanied by a sparse infiltrate of inflammatory cells and a notable absence of myxoid matrix. Immunohistochemistry and molecular testing revealed an ALK::SYN3 fusion, suggesting the diagnosis of a uterine leiomyoma-like inflammatory myofibroblastic tumour (UL-like IMT). UL-like IMT is exceedingly rare and can easily be misdiagnosed as smooth-muscle tumours based solely on clinical manifestations and morphology. Therefore, it is recommended that the diagnosis be based on a combination of histopathological features, immunohistochemical markers, and genetic testing results to ensure a comprehensive and accurate assessment.
Clinical analysis of histiocytic necrotizing lymphadenitis in adults with fever of unknown origin: a retrospective study.
Xie N, Zhang W, Tian F … +4 more , Chen J, Zhang W, Ruan Q, Song J
Diagn Pathol · 2025 Aug · PMID 40783524 · Full text
PURPOSE: To comprehensively analyze the clinical data of histiocytic necrotizing lymphadenitis (HNL) in adults with fever of unknown origin (FUO), with the aim of enabling precise diagnosis. PATIENTS AND METHODS: A total...
PURPOSE: To comprehensively analyze the clinical data of histiocytic necrotizing lymphadenitis (HNL) in adults with fever of unknown origin (FUO), with the aim of enabling precise diagnosis. PATIENTS AND METHODS: A total of 15 HNL patients with FUO were enrolled. The analysis encompassed clinical manifestations, laboratory parameters F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (F-FDG PET/CT) imaging profiles, pathological features and therapeutic responses. RESULTS: All patients presented with fever and lymphadenopathy (predominantly cervical). Laboratory findings included leukopenia (3.28 × 10⁹/L [2.40-4.97]), elevated LDH (306 U/L [187-524]), ESR (40 mm/h [30-51]), ferritin (457.1 ng/mL [206-1823.3]), and CRP (25 mg/L [6.1-34.8]) F-FDG PET/CT detected metabolic lymph node abnormalities in 13 cases, primarily cervical and axillary. The pathological features were extensive coagulative necrosis of lymph nodes with reactive hyperplasia of histiocytes as well as positive or scattered positivity IHC CD3, CD4, CD8 and CD68. Corticosteroid achieved favorable responses, with only 2 cases progressing during follow-up. CONCLUSION: In clinical practice, patients with fever and lymphadenopathy should be given due attention. Pathological examination remains the gold standard for diagnosing HNL. Glucocorticoid therapy has proven effective, and the majority of patients with HNL exhibit a favorable prognosis.
Enhancing preanalytic surgical specimen management: experience of a system implementation initiative.
Chen P, Qiu W
Diagn Pathol · 2025 Jul · PMID 40745621 · Full text
BACKGROUND /OBJECTIVES: Preanalytic quality control of surgical specimens is often inadequately managed. This study aimed to share the experience of improving quality through the implementation of a system for preanalyti...
BACKGROUND /OBJECTIVES: Preanalytic quality control of surgical specimens is often inadequately managed. This study aimed to share the experience of improving quality through the implementation of a system for preanalytic surgical specimens. METHODS: After initial workflow mapping and process optimization, a pathology specimen transfer system was piloted and subsequently implemented hospital-wide. Ongoing monitoring and adjustments were made based on established standards and operational needs. Data were analyzed using R Studio software. RESULTS: The system reduced errors from 24.82 to 2.40%, including reductions of 86.85% in requisition mistakes, 95.30% in label errors, and 100% in illegible handwriting. From 2020 to 2023, the interval between specimen removal and submission was halved, and delayed fixation decreased from 0.46 to 0.22%. CONCLUSIONS: The system effectively standardized processes, enhanced efficiency, and reduced errors in preanalytic surgical specimens. Quality improvement was dependent on thorough workflow mapping and optimization, as well as ongoing monitoring and adjustments.
Primary secretory carcinoma of thyroid with unusual features mimicking metastasis?
Teague J, Ciolino A, Sajisevi M
Diagn Pathol · 2025 Jul · PMID 40739667 · Full text
INTRODUCTION: 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 i...
INTRODUCTION: 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. METHODS: Case report. RESULTS: 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. CONCLUSIONS: 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.
Nodule density on CT-scan correlates with CYP11B1 expression in a patient with ARMC5 mutated primary bilateral macronodular adrenal hyperplasia.
Wang F, Luo Y, Liu Z … +1 more , Xie J
Diagn Pathol · 2025 Jul · PMID 40739578 · Full text
PURPOSE: 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 m...
PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Diagnostic challenges of FNA cytology of SETTLE: a case report and review of the literature.
Ilori EO, Hamdan H, Sarode V … +3 more , Hussain I, Islam A, Bishop JA
Diagn Pathol · 2025 Jul · PMID 40734183 · Full text
BACKGROUND: 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. CASE PRESENTATION: A 2...
BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSION: 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.
Extra-skeletal Ewing's sarcoma with EWSR1::ERG translocation of the breast: a case report.
Li W, Wu Y, Dong X … +3 more , Qiu X, Zheng G, Zhang Y
Diagn Pathol · 2025 Jul · PMID 40696373 · Full text
BACKGROUND: 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 yea...
BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSIONS: 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.
Digital twin manifesto for the pathology laboratory.
Eccher A, Pagni F, Dominici M … +7 more , Bonetti LR, Marletta S, Munari E, Cazzaniga G, Parwani AV, L'Imperio V, Dei Tos AP
Diagn Pathol · 2025 Jul · PMID 40676687 · Full text
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 s...
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.
Association of α-SMA/FAP-positive cancer-associated fibroblasts with clinicopathological features and prognosis in extrahepatic cholangiocarcinoma.
Sui X, Zheng Z, Yang L … +3 more , Zhang D, Sun X, Wang X
Diagn Pathol · 2025 Jul · PMID 40676676 · Full text
OBJECTIVE: 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...
OBJECTIVE: 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). METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
AI-based virtual immunocytochemistry for rapid and robust fine needle aspiration biopsy diagnosis.
Ahmed I, Zhang W, Cheung P … +8 more , Basnet V, Ali Z, Tse MP, Hill F, Chan TTL, Hu H, Li X, Lau C
Diagn Pathol · 2025 Jul · PMID 40676643 · Full text
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...
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.
MTHFD1L is a novel prognostic marker and therapeutic target in cutaneous melanoma.
Xie X, Shi G, Ning K … +1 more , Wu Z
Diagn Pathol · 2025 Jul · PMID 40640931 · Full text
BACKGROUND: 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...
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: MTHFD1L is a potential biomarker in cutaneous melanoma, and could potentially serve as a therapeutic target for SKCM.
Vegetative pyodermatitis-pyostomatitis in a patient with Crohn's disease: a clinical case report.
Luiz da Cunha J, Bezerra Araújo Cirilo I, Hudson Gomes de Santana I … +1 more , Rogério Ferreti Bonan P
Diagn Pathol · 2025 Jul · PMID 40634972 · Full text
INTRODUCTION: 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 erythemat...
INTRODUCTION: 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. OBJECTIVE: To report a case of vegetative pyostomatitis in a patient with Crohn's disease, focusing on the diagnostic process and therapeutic approach. CASE REPORT: 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. CONCLUSION: 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.
Total m6A RNA levels and VIRMA expression as potential diagnostic and prognostic markers in oral squamous cell carcinoma.
Shima K, Shimojukkoku Y, Oku Y … +5 more , Higashimoto K, Tsuchiyama T, Kajiya Y, Kurihara-Shimomura M, Sasahira T
Diagn Pathol · 2025 Jul · PMID 40611263 · Full text
BACKGROUND: 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 su...
BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: These results highlight the potential utility of RNA methylation and VIRMA expression for the diagnosis and treatment of OSCC.
Clinicopathological features and reclassification of penile squamous cell carcinoma according to WHO classification 2022 for penile carcinoma with p16 immunohistochemical expression and its prognostic impact.
Kaushik V, Pai K, Rao A … +1 more , Sharma S
Diagn Pathol · 2025 Jul · PMID 40611164 · Full text
INTRODUCTION: Squamous cell carcinoma (SCC) is the most common type of penile cancer, and infection with human papillomavirus (HPV) is one of the most highly associated risk factors. The WHO classification for penile SCC...
INTRODUCTION: Squamous cell carcinoma (SCC) is the most common type of penile cancer, and infection with human papillomavirus (HPV) is one of the most highly associated risk factors. The WHO classification for penile SCC (2022) strongly recommends and advocates penile SCC to be reported as HPV-associated or HPV-independent type in pathology reports. Further, p16 immunohistochemistry (IHC) is recommended to classify SCC into the above major types, although it is not completely reliable for HPV infection. Although there are no established differences in the prognosis or treatment between HPV-associated and HPV-independent penile tumours, there is recent evidence to suggest that HPV-associated SCC may respond better to radiation therapy, immunotherapy, etc. AIM AND OBJECTIVES: This study aims to = analyse the clinicopathological features of penile squamous cell carcinoma and reclassify penile SCC into HPV-associated and HPV-independent types to align with the WHO classification of penile carcinoma (2022) and study the expression of p16 by immunohistochemistry. Additionally, we studied the prognostic significance of HPV-associated and independent SCC based on histology and p16 immunostaining. MATERIALS AND METHODS: This is a five-year retrospective single-institution study that included all diagnosed cases of penile SCC. Clinicopathological features and p16 expressions were studied and analysed. RESULTS: A total of 72 cases of penile SCC were included during the study period. The mean age of occurrence of penile SCC was 58 years. The most common site of the tumor was the glans penis (50.74%). We encountered only 6 cases (8.3%) of HPV-associated type of penile SCC, while the majority belonged to the HPV-independent type (91.7%) based on histology. p16 immunohistochemistry showed positivity in 15 cases (21%) and negativity in 57 cases (79%). Most of the tumors showed favorable features- histological grade I, pathological T1 stage with a low incidence of nodal metastasis. There was a strong association between histological subtyping into HPV-associated and independent SCC with p16 IHC expression (p = 0.015). Classification of penile SCC by histology and p16 expression into HPV associated and independent type showed no prognostic significance with pathological stage but was significant with histological grade and lymph node metastasis.
SHMT2 overexpression improves glaucoma by enhancing mitophagy in retinal ganglion cells through promoting the phospho of PINK1.
Cui L, Wang B
Diagn Pathol · 2025 Jul · PMID 40604870 · Full text
BACKGROUND: Glaucoma is a major eye disease that causes blindness. The loss of retinal ganglion cells (RGCs) due to mitophagy impairment is a key driver of glaucoma. SHMT2 depletion leads to an increase in reactive oxyge...
BACKGROUND: Glaucoma is a major eye disease that causes blindness. The loss of retinal ganglion cells (RGCs) due to mitophagy impairment is a key driver of glaucoma. SHMT2 depletion leads to an increase in reactive oxygen species (ROS), but its role in regulating mitophagy remains unclear. This study aims to investigate the mechanism by which SHMT2 contributes to glaucoma through the regulation of RGC mitophagy. METHODS: The role of SHMT2 in glaucoma was evaluated through hematoxylin and eosin (H&E) staining and immunofluorescence (IF) staining of acute ocular hypertension (AOH) mouse eyeballs. Mitophagy was assessed by measuring LDH release, apoptosis, mitochondrial membrane potential, lipid ROS, and the protein levels of mitophagy-related proteins in RGCs. The underlying mechanism was investigated using co-immunoprecipitation, IF staining, and Western blot analysis. RESULTS: Results showed that SHMT2 expression was decreased in the AOH mouse model. NMDA inhibited mitophagy in RGCs, which was restored by SHMT2 overexpression. Moreover, SHMT2 overexpression stabilized PINK1 expression by enhancing the phosphorylation of PINK1. In vivo experiments suggested that SHMT2 overexpression increased the thickness of the retinal ganglion cell-inner plexiform layer. CONCLUSION: This study confirmed that SHMT2 overexpression alleviated glaucoma by enhancing mitophagy in RGCs through the upregulation of PINK1 phosphorylation, suggesting that SHMT2 may serve as a potential therapeutic target for glaucoma.
p53 aberrant expression is pervasive in pleomorphic carcinomas of the lung and a sensitive diagnostic adjunct for biopsy specimens.
Li JJX, Chow C, Ng JKM … +3 more , Chan KP, Li MSC, To KF
Diagn Pathol · 2025 Jul · PMID 40597236 · Full text
INTRODUCTION: The prognosis of pleomorphic carcinoma of the lung is poor with a propensity of metastasis and distant recurrence. The high intratumoral heterogeneity and variable morphologic composition of pleomorphic car...
INTRODUCTION: The prognosis of pleomorphic carcinoma of the lung is poor with a propensity of metastasis and distant recurrence. The high intratumoral heterogeneity and variable morphologic composition of pleomorphic carcinomas lead to underdiagnosis in biopsy specimens from non-small cell carcinomas. This study aims to detail the p53 expression pattern in pleomorphic carcinoma and its role in biopsy assessment. METHODS: p53 immunostain was performed on a cohort of pleomorphic carcinoma resection and corresponding biopsy specimens, with TP53 sequencing performed on microdissected pleomorphic and non-pleomorphic components. RESULTS: A total of 30 cases were analyzed and non-pleomorphic components were identified in 11 cases. Aberrant p53 immunostain expression was seen in 24 (80%), consisting of 11 (36.7%) overexpression (≥ 90%) and 13 (43.3%) null patterns. The non-pleomorphic components showed concordant p53 expression with the pleomorphic components. All 11 corresponding biopsy specimens, and an additional adrenal metastatectomy, showed concordant aberrant p53 expression. Four cases were suitable for sequencing, and TP53 mutation was detected in all. In three cases, identical TP53 mutations (F134L, G245V and C227F) were found in the non-pleomorphic and pleomorphic components, with aberrant p53 staining. Concurrent EGFR mutation was seen in the case with C227F mutation. The remaining case showed different TP53 mutations in the non-pleomorphic (R342) and pleomorphic components (G245S with wild-typeimmunostain pattern. CONCLUSION: TP53 mutation and aberrant p53 immunostain expression are consistently and concordantly observed in pleomorphic, non-pleomorphic components, metastatic and small biopsy specimens of pleomorphic carcinomas. There is value in performing p53 immunostain for diagnosing pleomorphic carcinoma in small specimens.
A case of primary tarsal sinus synovial sarcoma.
Ye Z, Zixing C, Xiaojun L … +2 more , Ningning Y, Qifeng S
Diagn Pathol · 2025 Jul · PMID 40597171 · Full text
BACKGROUND: Primary intra-articular synovial sarcoma is a rare condition that is frequently misdiagnosed due to its indolent growth pattern and similarity to other common joint disorders. CASE PRESENTATION: A 48-year-old...
BACKGROUND: Primary intra-articular synovial sarcoma is a rare condition that is frequently misdiagnosed due to its indolent growth pattern and similarity to other common joint disorders. CASE PRESENTATION: A 48-year-old Chinese woman presented with a 3-year history of recurrent pain and limited mobility in her left ankle. She had previously been misdiagnosed with conditions such as ankle sprain, synovitis, or tarsal sinus syndrome. After undergoing arthroscopic synovectomy, pathological examination confirmed the diagnosis of synovial sarcoma. CONCLUSION: Primary intra-articular synovial sarcoma is an exceedingly rare and often misdiagnosed condition. It's slow growth and clinical overlap with other joint pathologies contribute to diagnostic challenges. Accurate diagnosis relies on comprehensive evaluation, particularly when clinical manifestations deviate from typical presentations. A high index of suspicion and thorough pathological assessment are essential for timely and accurate diagnosis.
Patterns of sialyl-Lewis X expression predict gastric histopathology.
Vargas N, Quiroga A, Chaves JP … +5 more , Bolaños H, Nalbantoglu I, Astaiza CPA, Wu Y, Sáenz JB
Diagn Pathol · 2025 Jun · PMID 40551130 · Full text
INTRODUCTION: Gastric cancer develops through a series of pre-cancerous changes over decades of chronic inflammation. Chronic atrophic gastritis (CAG) represents a critical transition in the progression to gastric cancer...
INTRODUCTION: Gastric cancer develops through a series of pre-cancerous changes over decades of chronic inflammation. Chronic atrophic gastritis (CAG) represents a critical transition in the progression to gastric cancer, though validated histologic markers are needed to more accurately detect and assess the extent of CAG. We previously identified sialyl-Lewis X (sLe) as a marker of atrophic gastric epithelium in mice. Here, we establish patterns of sLe expression that can be used to detect and distinguish human gastric pre-cancerous lesions. METHODS: We obtained gastric corpus and/or antrum biopsies from 149 adult patients with dyspepsia. Biopsies were stained with hematoxylin/eosin and a commercially available antibody to sLe. Histologic diagnoses included normal, chronic non-atrophic gastritis (CNG), or CAG with or without intestinal metaplasia (IM) and were determined by a single pathologist. A second pathologist graded each biopsy according to consensus criteria, based on the presence, intensity, and glandular distribution of sLe staining. Log-linear models were used to determine the association between patterns of sLe expression and gastric pathology. RESULTS: The majority of patients (70%) had gastric pathology (CNG or CAG ± IM). The presence of sLe could be used to detect gastric pathology (97% sensitivity), and the absence of sLe staining could reliably predict normal histology (76% specificity). The intensity of sLe staining significantly correlated with gastric pathology. Moreover, a deeper (≥ 50%) glandular sLe distribution in the antrum was significantly associated with CAG, while a more superficial (< 50%) distribution significantly correlated with CNG. CONCLUSION: Patterns of sLe expression can be used to detect and refine the histologic assessment of gastric pre-neoplastic lesion severity.
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