Aditi Tiwary, Sachin Sebastian Francis, Swati Sharma, Ananth Pai
{"title":"Clinicopathological characteristics across the HER2 expression spectrum in invasive breast carcinoma of no special type: a single-centre retrospective study.","authors":"Aditi Tiwary, Sachin Sebastian Francis, Swati Sharma, Ananth Pai","doi":"10.1186/s13000-026-01791-x","DOIUrl":"10.1186/s13000-026-01791-x","url":null,"abstract":"<p><strong>Background: </strong>The efficacy of trastuzumab deruxtecan in HER2-low metastatic breast cancer has shifted HER2 classification from a binary framework toward a continuous expression spectrum that now includes HER2-low and HER2-ultralow categories. Accurate characterization of these subgroups is essential for therapeutic stratification, yet their clinicopathological profiles remain incompletely defined, particularly in the Indian population. This study compared the clinicopathological features and short-term outcomes of invasive breast carcinoma of no special type across four HER2-defined subgroups.</p><p><strong>Methods: </strong>Three hundred cases of invasive breast carcinoma of no special type diagnosed on core needle biopsy at a tertiary centre in southern India (2022-2023) were classified into HER2-positive, HER2-low, HER2-ultralow, and HER2-negative subgroups using immunohistochemistry with fluorescence in situ hybridisation confirmation. Associations were evaluated using chi-square tests, Kruskal-Wallis tests, binary logistic regression, correspondence analysis, and Kaplan-Meier survival analysis.</p><p><strong>Results: </strong>HER2-low constituted the largest subgroup at 51.7%, followed by HER2-positive (32.3%), HER2-ultralow (9.0%), and HER2-negative (7.0%). HER2-low tumours demonstrated significantly higher oestrogen receptor (74.8%) and progesterone receptor (61.3%) positivity, lower Nottingham grade, and a greater proportion of low Ki-67 proliferation index compared to the other subgroups. Age, menopausal status, clinical stage, tumour size, lymphovascular invasion, perineural invasion, and stromal tumour-infiltrating lymphocyte density did not differ significantly across the four subgroups. On multivariate logistic regression, progesterone receptor positivity was the sole independent predictor of HER2-low status (odds ratio 1.92, 95% confidence interval 1.05-3.50, p = 0.034). The triple-negative phenotype increased progressively from HER2-low (25.2%) through HER2-ultralow (40.7%) to HER2-negative (57.1%). Correspondence analysis placed HER2-ultralow in an intermediate position between HER2-low and HER2-negative. No significant survival differences were observed over a median follow-up of 23 months.</p><p><strong>Conclusions: </strong>HER2-low tumours represent the majority of invasive breast carcinomas in this Indian cohort and exhibit a distinct profile defined by hormone receptor enrichment, lower grade, and reduced proliferative activity. The intermediate phenotype of HER2-ultralow supports its recognition as a biologically separate category. These findings highlight the importance of standardised HER2 reporting across the full expression spectrum to guide antibody-drug conjugate therapy eligibility.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13371547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147986978","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":"Rapid slide-level assessment of glomerular yield using virtual staining of unstained renal biopsy sections.","authors":"Xingan Cai, Xi Chen, Jinqiu Liu, Xiaoling Yang, Liwei Xie, Linfeng Tang","doi":"10.1186/s13000-026-01794-8","DOIUrl":"10.1186/s13000-026-01794-8","url":null,"abstract":"<p><strong>Background: </strong>Renal biopsy remains the gold standard for the diagnosis of kidney diseases, and specimen adequacy is essential for reliable histopathological evaluation. However, confirmation of glomerular yield in routine pathology workflows often relies on histological sections after staining, which may delay feedback when deeper sectioning is required.</p><p><strong>Methods: </strong>In this study, we investigated whether virtual staining applied to unstained renal biopsy sections could enable early assessment of glomerular adequacy. Unstained sections prepared under different mounting conditions were virtually transformed into H&E and special stains. The visibility of glomerular structures and the reliability of glomerular assessment were evaluated across multiple scanners.</p><p><strong>Results: </strong>Optimized preparation of unstained sections enabled stable virtual staining with preserved morphological features. Virtual special stains enhanced the visualization of glomerular basement membranes and mesangial regions, allowing reliable identification of glomeruli on unstained tissue sections. This approach demonstrated robustness across different scanning systems, outperforming direct assessment on raw unstained images.</p><p><strong>Conclusions: </strong>Virtual staining of unstained renal biopsy sections provides a rapid and reagent-free strategy for early slide-level assessment of glomerular yield. By enabling feedback at the sectioning stage before routine staining, this method may improve efficiency and quality control in routine renal pathology workflows.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13366873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147971251","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":"Expression differences and clinical significance of PD-L1 in lung cancer patients with different histological types and differentiation degrees.","authors":"Xincheng Zhou, Shuang Ao, Yanan Guo, Jing Jin","doi":"10.1186/s13000-026-01785-9","DOIUrl":"10.1186/s13000-026-01785-9","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the expression differences of PD-L1 in non-small cell lung cancer (NSCLC) patients with different histological types and differentiation degrees.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the clinical data of 538 NSCLC patients diagnosed at Ningbo Pathological Diagnosis Center (6 small cell lung cancer cases were excluded due to limited sample size). PD-L1 expression was detected by immunohistochemistry (clone 22C3) and evaluated by tumor proportion score (TPS). Univariate chi-square test and multivariate Logistic regression analysis were used to analyze the associations between PD-L1 expression and clinical pathological factors (gender, age, histological type, differentiation degree).</p><p><strong>Results: </strong>PD-L1 expression showed significant gender-based differences (P = 0.000), with a higher positivity rate in male patients. No significant difference was found in PD-L1 expression among different age groups (P = 0.708). Multivariate Logistic regression analysis confirmed that histological type (OR = 2.135, 95%CI:1.526-2.990, P = 0.000) and differentiation degree (OR = 0.412, 95%CI:0.298-0.569, P = 0.000) were independent influencing factors of PD-L1 high expression in NSCLC patients. The proportion of adenocarcinoma (ADC) patients with negative PD-L1 expression was significantly higher than that of squamous cell carcinoma (SCC) patients (32.45% vs. 19.92%, P = 0.000), while the high expression rate of SCC was significantly higher than that of ADC (30.08% vs. 19.21%, P = 0.000). The negative expression rate of PD-L1 in well-differentiated tumors was the highest (45.71%, P = 0.000), and the high expression rate in poorly differentiated tumors was the highest (35.98%, P = 0.000). Among well-differentiated patients with negative PD-L1 expression, the proportion of ADC was significantly higher than that of SCC (61.11% vs. 29.41%, P = 0.023); among well-differentiated patients with low PD-L1 expression, the proportion of SCC was higher than that of ADC (52.94% vs. 38.89%, P = 0.037).</p><p><strong>Conclusion: </strong>PD-L1 expression in NSCLC is significantly correlated with histological type and differentiation degree, which are independent influencing factors of PD-L1 high expression. SCC and poorly differentiated tumors have higher PD-L1 expression levels, suggesting that these patients may have better responsiveness to PD-1/PD-L1 inhibitor immunotherapy. The study provides more precise pathological evidence for personalized immunotherapy strategies in NSCLC patients.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13352926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147948012","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}
Viscardo Paolo Fabbri, Luca Reggiani Bonetti, Fabio Pagni, Alessandro Mazzini, Vincenzo L'Imperio, Stefania Caramaschi, Anil Parwani, Angelo Paolo Dei Tos, Stefano Marletta, Albino Eccher
{"title":"Mobile device smartphones for intraoperative diagnosis at the University Hospital Trust of Modena/UNIMORE: from validation process to costs analysis.","authors":"Viscardo Paolo Fabbri, Luca Reggiani Bonetti, Fabio Pagni, Alessandro Mazzini, Vincenzo L'Imperio, Stefania Caramaschi, Anil Parwani, Angelo Paolo Dei Tos, Stefano Marletta, Albino Eccher","doi":"10.1186/s13000-026-01792-w","DOIUrl":"10.1186/s13000-026-01792-w","url":null,"abstract":"<p><strong>Background: </strong>Telepathology enables remote diagnostic consultation through digital image transmission and is particularly valuable in settings where subspecialty expertise is not immediately available. This study evaluated the diagnostic accuracy of PathoZoom<sup>®</sup>, a web-based platform that allows real-time remote review of microscope images via mobile devices during intraoperative frozen section examination in a high-complexity academic hospital.</p><p><strong>Methods: </strong>Seventy-five consecutive frozen section cases, processed between January and April 2024 at the University Hospital Trust of Modena/UNIMORE, were included. All cases were first diagnosed using conventional light microscopy (LM) and then, after a washout period, the same slides were reviewed remotely using the PathoZoom<sup>®</sup> system and mobile smartphones. Diagnostic concordance between LM and telepathology was assessed, classifying discrepancies as major or minor, depending on their clinical impact in accordance with the current guidelines of the College of American Pathologists guidelines.</p><p><strong>Results: </strong>Overall concordance was 96% (72/75 cases). One major discordance occurred in a basal cell carcinoma margin assessment, interpreted as negative by telepathology and positive by LM. Two minor discrepancies involved polymorphonuclear cell counts in orthopedic specimens. No differences in performance were observed between mobile devices.</p><p><strong>Conclusions: </strong>Thanks to the technological setting and results, PathoZoom<sup>®</sup> and Smartphones are proposed as a diagnostic option for intraoperative consultation. Results support safety, feasibility and cost effectiveness of mobile-based telepathology in complex surgical settings and geographically extended healthcare networks.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13340104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147927384","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}
Nasir Ud Din, Manahil Khan, Jamshid Abdul-Ghafar, Fatima Safdar, Zubair Ahmad
{"title":"Schwannoma of tongue: a clinicopathologic study of 34 cases and review of published literature.","authors":"Nasir Ud Din, Manahil Khan, Jamshid Abdul-Ghafar, Fatima Safdar, Zubair Ahmad","doi":"10.1186/s13000-026-01789-5","DOIUrl":"10.1186/s13000-026-01789-5","url":null,"abstract":"<p><strong>Background: </strong>Schwannomas are exceedingly rare in the tongue. Here, we report clinicopathological features of tongue schwannomas diagnosed at the section of Histopathology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital (AKUH), Karachi, Pakistan and reviewed the published literature.</p><p><strong>Methods: </strong>Retrospective study of 34 tongue schwannomas diagnosed between 2011 and 2024. Hematoxylin and Eosin (H&E) and immunohistochemical (IHC) slides were reviewed. Demographic and clinical data were obtained.</p><p><strong>Results: </strong>There was a slight female preponderance. Mean age was 30 years. Commonest sites were lateral borders and base of tongue. All tumors were surgically excised. Average tumor size was 2 cm. Histologically, 30 tumors exhibited classical features of schwannoma, while 4 were cellular. On IHC, strong and diffuse positivity of S100 protein and SOX10 was seen. No recurrences were reported in the cases where follow-up was available. None of the 34 cases had clinical features suggestive of Neurofibromatosis.</p><p><strong>Conclusions: </strong>Schwannomas although rare, should be included in the differential diagnosis of tongue masses. Early recognition and surgical excision result in excellent outcomes.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13277217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147812217","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":"Monocytoid dendritic cells might be a specific marker for lung involvement in dermatomyositis.","authors":"Johanna Knirsch, Mohammed Al-Effah, Helmut Popper","doi":"10.1186/s13000-026-01790-y","DOIUrl":"10.1186/s13000-026-01790-y","url":null,"abstract":"<p><p>Dermatomyositis (DM) is a rare autoimmune disease leading to inflammatory and degenerative changes affecting skin and muscles. Interstitial lung disease is a major risk factor for morbidity and mortality in DM. The precise immune mechanism underlying DM, particularly in the context of lung involvement, remains poorly understood. This research focuses on the significance of dendritic cell subsets and Langerhans cells in the immune irregularities observed in DM.The study analyzed 12 cases of DM with lung involvement, and compared the findings to 12 cases with skin involvement. All subjects were untreated at the time of diagnosis, with ages ranging from the 20 to 80 years. Immunohistochemistry was utilized to characterize dendritic cell subsets and to assess cells expressing MDA5. Six cases of rheumatoid arthritis (RA) with fibrosing pneumonia were investigated for comparison.We identified dendritic cells and lymphocytes expressing the melanoma differentiation gene 5 (MDA5) protein. Monocytoid dendritic cells predominated in DM, and were absent in RA, therefore might serve as a diagnostic marker, separating DM from other autoimmune diseases. Our findings suggest that DCs and lymphocytes are constantly attacked by autoantibodies for MDA5, as these cells express the antigen. Furthermore, mature DC in skin and lung and Langerhans in the skin are replaced by immature DC. This might explain prolonged activation of the immune system resulting in fibrosis in both skin and lung tissues. The loss of Langerhans cells might be responsible for an increased penetrance of antigens through the epidermis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13267402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765356","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}
Eduarda Gomes Onofre de Araújo, Livian Isabel de Medeiros Carvalho, Breno Estevam Silva de de Souza, Ilan Hudson Gomes de Santana, Hélder Domiciano Dantas Martins, Hellen Bandeira de Pontes Santos, Cláudia Batista Mélo, Leonardo Amaral Dos Reis, Lívia Máris Ribeiro Paranaíba Dias, Andre Ulisses Dantas Batista, Edson Hilan Gomes de Lucena, Paulo Rogerio Ferreti Bonan
{"title":"Virtual assistants based on artificial intelligence for oral diagnosis: help for clinicians AI oral diagnosis helper.","authors":"Eduarda Gomes Onofre de Araújo, Livian Isabel de Medeiros Carvalho, Breno Estevam Silva de de Souza, Ilan Hudson Gomes de Santana, Hélder Domiciano Dantas Martins, Hellen Bandeira de Pontes Santos, Cláudia Batista Mélo, Leonardo Amaral Dos Reis, Lívia Máris Ribeiro Paranaíba Dias, Andre Ulisses Dantas Batista, Edson Hilan Gomes de Lucena, Paulo Rogerio Ferreti Bonan","doi":"10.1186/s13000-026-01751-5","DOIUrl":"10.1186/s13000-026-01751-5","url":null,"abstract":"<p><p>BACKGROUND: Oral cancer is one of the most aggressive malignancies in the head and neck region, with high potential for and a poor prognosis. Despite advancements in diagnostic methods, early detection remains a challenge owing to the lack of specific symptoms in the initial stages and socioeconomic barriers limiting access to health care. Artificial intelligence has emerged as a promising tool for improving diagnostic accuracy in various medical fields, including oral pathology. This study aimed to evaluate the performance of the AI Oral Diagnosis Helper (AODH), developed using ChatGPT™ (versions 4 and 4o), in the diagnosis and management of oral diseases. METHODS: Thirty clinical cases were evaluated by two specialists for oral diagnosis and AODH. Diagnosis and treatment suggestions were compared with those of a gold standard specialist. Agreement and accuracy rates were calculated via Fleiss’ generalized kappa coefficient with a 95% confidence interval via RStudio. RESULTS: AODH via ChatGPT™ 4 (AODH4) correctly identified 22 out of 30 cases (73.3%), whereas AODH via version 4° (AODH4°) correctly identified 24 cases (80%). Expert 1 and Expert 2 correctly diagnosed 27 (90%) and 26 (86.7%) cases, respectively. Fleiss’s kappa indicated substantial reliability among AODHs and experts (K = 0.79). The AODH4 recommended appropriate diagnostic tests in 21 cases (70%), whereas the AODH4o did so in 26 cases (86.7%). For biopsy recommendations, Specialist 1 was accurate in 27 cases (90%), Specialist 2 was accurate in 26 cases (86.7%), AODH4 was accurate in 17 cases (56.7%), and AODH4o was accurate in 26 cases (86.7%). CONCLUSION: AODH demonstrated high diagnostic accuracy comparable to that of human specialists and can assist in oral diagnosis, especially where access to specialists is limited. The performance of AODH4o was superior to that of AODH4. Further research is needed to define the role of AI in enhancing clinical decision-making. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13248346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765395","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}
Zhe Zhang, Ye Yang, Yiyuan Dou, Wenchao Liu, Lin Dong, Yuelu Zhu, Haizhen Lu
{"title":"Clinical pathological characteristics and prognostic analysis of 140 cases of medullary thyroid carcinoma: validation of the international medullary thyroid carcinoma grading system in a chinese cohort.","authors":"Zhe Zhang, Ye Yang, Yiyuan Dou, Wenchao Liu, Lin Dong, Yuelu Zhu, Haizhen Lu","doi":"10.1186/s13000-026-01787-7","DOIUrl":"10.1186/s13000-026-01787-7","url":null,"abstract":"<p><p>BACKGROUND: Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor with variable clinical behavior. The International Medullary Thyroid Carcinoma Grading System (IMTCGS) was developed to refine prognostic stratification, but its validation in Chinese populations remains limited. This study aimed to validate the IMTCGS and evaluate the prognostic significance of Ki-67, preoperative calcitonin levels, and molecular alterations in a Chinese MTC cohort. METHODS: We conducted a retrospective analysis of 140 MTC patients who underwent initial surgery at a single center between May 2017 and June 2025. Tumors were graded using the IMTCGS criteria. Associations among clinicopathological variables, Ki-67 index, preoperative calcitonin levels, molecular characteristics (assessed by next-generation sequencing), and progression-free survival (PFS) were analyzed using Kaplan-Meier analysis, Cox proportional hazards models, and receiver operating characteristic (ROC) curves. RESULTS: High-grade MTC (47.9%) and Ki-67 index ≥ 5% (46.4%) were significantly associated with larger tumor size, higher T/N stage, greater lymph node metastasis burden, and vascular invasion (all p < 0.05). Preoperative calcitonin levels showed strong correlations with both tumor diameter (ρ = 0.623, p < 0.001) and lymph node metastasis count (ρ = 0.530, p < 0.001). RET mutations were predominant (89.5%), with exon 16 being the most frequently involved. High-grade disease, Ki-67 ≥ 5%, tumor diameter ≥ 2 cm, ≥ 5 metastatic lymph nodes, and male sex were all associated with significantly shorter PFS (all p < 0.05). Among all predictors, lymph node metastasis count showed the highest discriminatory accuracy for PFS (AUC = 0.793). CONCLUSIONS: The IMTCGS appears to effectively stratify tumor aggressiveness in Chinese MTC patients, with Ki-67 emerging as a critical component of risk assessment. Preoperative calcitonin level serves as a robust quantitative indicator of tumor burden, while the predominance of RET mutations reinforces their central pathogenic role. These findings support the clinical utility of integrating histological grading, proliferative markers, and biomarker profiling to enhance risk stratification and guide personalized management in MTC. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13237999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147765401","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}
Lei Wang, Yuan Hu, Huazun Yuan, Na Yu, Li Xiao, Jingjing Jin
{"title":"Comparison of immunohistochemistry, PCR, and NGS for the evaluation of mismatch repair deficiency and microsatellite instability in colorectal cancer: a retrospective study.","authors":"Lei Wang, Yuan Hu, Huazun Yuan, Na Yu, Li Xiao, Jingjing Jin","doi":"10.1186/s13000-026-01788-6","DOIUrl":"10.1186/s13000-026-01788-6","url":null,"abstract":"<p><p>BACKGROUND: Microsatellite instability (MSI) and mismatch repair (MMR) deficiency serves as a critical predictive biomarker for the efficacy of immune checkpoint inhibitors (ICIs) in colorectal cancer (CRC). However, discrepancies among detection methods may lead to inconsistent results, which may contribute to ICIs resistance. This study aimed to evaluate the concordance of MMR status and MSI assessment across three commonly used methods and to explore factors underlying discordant cases. METHODS: We retrospectively analyzed MSI status in 534 CRC patients using three detection methods: immunohistochemistry (IHC) for MMR protein expression, and polymerase chain reaction (PCR) and next-generation sequencing (NGS) for MSI status assessment. Concordance between methods was measured using Kappa statistics, and discordant cases were further investigated. RESULTS: Among the 534 cases, 7.3% (39/534) were classified as deficient mismatch repair (dMMR) by IHC, 7.5% (40/534) as MSI-H by PCR, and 7.3% (39/534) as MSI-H by NGS. The highest concordance was observed between PCR and NGS (Kappa = 0.986), followed by NGS and IHC (Kappa = 0.943), and PCR and IHC (Kappa = 0.930). Discordant results occurred in five cases (0.9%), primarily attributable to assay-specific limitations, tumor heterogeneity, technical or pre-analytical issues, and biological variability. CONCLUSION: IHC, PCR, and NGS showed high overall concordance in MSI and MMR assessment. The small number of discordant cases highlights the inherent limitations of individual methods. While single-method testing is generally reliable, multi-platform evaluation may provide additional insights in diagnostically challenging or borderline cases. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13227882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147728676","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":"Combined assessment of stromal tumor infiltrating lymphocytes and tumor peroxiredoxin 4 expression improved prognostic stratification in postoperative pancreatic cancer patients.","authors":"Yao Liu, Jia Han, Akihiro Shioya, Wenpeng Jiao, Masashi Okuro, Tohru Ito, Sohsuke Yamada","doi":"10.1186/s13000-026-01786-8","DOIUrl":"10.1186/s13000-026-01786-8","url":null,"abstract":"<p><p>BACKGROUND: Pancreatic cancer (PC) is characterized by profound immunosuppression and marked biological heterogeneity. Stromal tumor-infiltrating lymphocytes (TILs) reflect host antitumor immunity, whereas peroxiredoxin 4 (PRDX4) represents tumor redox adaptation. However, their combined prognostic value remains unclear. METHODS: We retrospectively analyzed 138 resected cases of PC. Stromal TIL density was assessed on hematoxylin-eosin (H&E) sections, and tumor PRDX4 expression was evaluated by immunohistochemistry. Both markers were dichotomized into high and low groups using ROC-derived thresholds. Patients were further classified into four integrated subgroups: TIL-high/PRDX4-low (TH-PL), TIL-high/PRDX4-high (TH-PH), TIL-low/PRDX4-low (TL-PL), and TIL-low/PRDX4-high (TL-PH). Associations with clinicopathological features and disease-specific survival (DSS) were analyzed. RESULTS: High TIL density was associated with less advanced pathological stage and significantly improved DSS, whereas high PRDX4 expression correlated with lymphovascular and perineural invasion as well as advanced stage. An inverse association between TILs and PRDX4 was observed. Integrated subgroup analysis revealed distinct prognostic patterns: the TL-PH subgroup showed the poorest DSS, whereas the TH-PL subgroup demonstrated the most favorable outcomes. In multivariable Cox models, the TL-PH subgroup remained an independent adverse prognostic factor for both 3- and 5-year DSS, while the TH-PL subgroup showed a protective effect, particularly at 3 years. CONCLUSIONS: Stromal TILs and PRDX4 appear to capture complementary immune and redox features of PC. Their combined assessment may improve prognostic stratification and help to identify a potential redox-associated, immune-excluded subgroup with particularly poor outcomes. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147697955","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}