Diagnostic Pathology最新文献

{"title":"Expression of LDHA, Pan-Kla Level and H3K18la associates with clinical progression of laryngeal squamous cell carcinoma.","authors":"Yangbingyu Wen, Miaolong Lu, Mu Yang, Yu Kang, Songqing Fan, Yuting Zhan","doi":"10.1186/s13000-026-01842-3","DOIUrl":"10.1186/s13000-026-01842-3","url":null,"abstract":"<p><strong>Aims: </strong>Laryngeal squamous cell carcinoma (LSCC) represents one of the major subtypes of head and neck squamous cell carcinoma (HNSC), imposing substantial health burdens and necessitates comprehensive clinical interventions. Lactylation, a newly discovered protein post-translational modification (PTM), has recently been recognized as a critical regulatory element in cancer biology and LDHA plays a central role in lactylation modulation. H3K18la, one of the crucial types of histone lactylation, has drawn increasing attention of studies of malignant tumors in recent years. There is no study about the relationship between the expression of LDHA, Pan-Kla level and H3K18la and clinical characteristics and prognosis of LSCC patients.</p><p><strong>Methods: </strong>It was analyzed that the mRNA expression of LDHA in HNSC in TCGA databases. The expression of LDHA, Pan-Kla level, and H3K18la was detected by immunohistochemistry (IHC) in a large scale of LSCC patients, evaluating their associations with clinicopathologic features and prognosis.</p><p><strong>Results: </strong>LDHA mRNA was significantly upregulated in HNSC and was associated with poorer prognosis by bioinformatic analysis. Expression of LDHA, Pan-Kla level and H3K18la were higher in LSCC tissues than in non-cancerous laryngeal epithelial tissues. LDHA expression and Pan-Kla level were significantly associated with T stage. H3K18la expression was significantly associated with lymph node metastasis. Kaplan-Meier survival analysis showed that high expression of LDHA, Pan-Kla level and H3K18la was associated with shorter OS in LSCC patients. Multivariate Cox regression analysis identified positive LDHA expression as an independent prognostic indicator for LSCC.</p><p><strong>Conclusions: </strong>LDHA, Pan-Kla level and H3K18la were upregulated in LSCC tissues and were associated with shorter OS. LDHA may serve as an independent prognostic biomarker for patients with LSCC.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"21 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13523308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849953","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":"Deep learning-assisted detection of lymph node metastases in bladder cancer.","authors":"Adam Gorczynski, Balazs Tarján, Noora Neittaanmäki","doi":"10.1186/s13000-026-01821-8","DOIUrl":"10.1186/s13000-026-01821-8","url":null,"abstract":"<p><strong>Background: </strong>Bladder cancer is the most common malignancy of the urinary tract and is often treated with radical cystectomy with lymph node dissection, followed by a thorough pathological evaluation of the dissected nodes. This is crucial for both accurate prognosis and successful treatment. However, histopathological lymph node examination is labor-intensive and time-consuming.</p><p><strong>Aim: </strong>To develop a supervised deep learning model for detecting nodal metastases in bladder cancer, and to evaluate its influence on pathologists' assessment efficiency.</p><p><strong>Methods: </strong>This study included 100 histopathological slides representing lymph nodes collected between 2015 and 2024 from the Sahlgrenska University Hospital and scanned into whole slide images, divided into training and validation/test sets. The algorithm was trained with 3437 pixelwise annotations. In the validation set, 50 regions containing normal tissue and metastasis were assessed by AI and two specialist pathologists as validators. In the test set, two pathologists reviewed entire slides and measured review times without, and then, after the washout period, with AI assistance.</p><p><strong>Results: </strong>In the test set, the AI model achieved a sensitivity of 100% and a specificity of 60% for the detection of metastases. For pathologist 1, the median review time decreased from 9 s to 4.2 s with AI assistance, (sign test: Z = -4.73, p < 0.001). For pathologist 2, the median review time decreased from 12 to 4 s (sign test: Z = -5.00, p < 0.001).</p><p><strong>Conclusions: </strong>This study demonstrates that an AI model trained on a limited dataset can effectively assist pathologists in the detection of lymph node metastases in bladder cancer while significantly reducing review time. These findings suggest that institutions with limited case volumes may be able to develop and implement locally trained AI models to support routine histopathological assessment.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"21 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13459389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711756","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":"The effect of obesity on the coccoid form transformation of Helicobacter pylori and its relationship with gastric inflammation pattern: a retrospective comparative study.","authors":"Burcu Sanal Yılmaz, Sibel Acat","doi":"10.1186/s13000-026-01823-6","DOIUrl":"10.1186/s13000-026-01823-6","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background/aim: &lt;/strong&gt;Helicobacter pylori (H. pylori) can transform from its spiral form into a coccoid (viable but non-culturable; VBNC) state under adverse environmental conditions. The coccoid form is associated with antibiotic resistance and eradication failure. This study compared coccoid and spiral form proportions, H. pylori localization patterns (epithelial vs. crypt), and gastric inflammation parameters across three BMI-stratified groups.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Materials and methods: &lt;/strong&gt;This retrospective comparative study included 156 H. pylori-positive cases from the archives of Karamanoglu Mehmetbey University Faculty of Medicine (2016-2026). Groups: Group 1 (Severe obesity/Sleeve, BMI ≥ 35; sleeve gastrectomy, n = 55), Group 2 (Non-obese/Biopsy, BMI &lt; 30; biopsy, n = 68), Group 3 (Obese/Biopsy, BMI ≥ 30; biopsy, n = 33). IHC with anti-H. pylori antibody was used for morphological assessment. Coccoid/spiral proportions, HP density, Sydney-criteria gastritis parameters, coccoid categorization (&lt; 5%, 5-19%, 20-39%, ≥ 40%), and epithelial/crypt HP localization were analyzed (SPSS 25.0; p &lt; 0.05).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Median corpus coccoid proportion was significantly higher in Group 1 (10%, IQR 5-30) vs. Group 2 (1%, IQR 1-1; p &lt; 0.001), with strong BMI correlation (r = 0.639, p &lt; 0.001). The ≥ 40% coccoid category was exclusively observed in the severe obesity/sleeve group (23.6%; p &lt; 0.001). Corpus spiral proportion decreased in a stepwise inverse gradient across categories (99%→90%→80%→40%; H = 113.8, p &lt; 0.001). Corpus HP density (Sydney score) differed significantly across groups (H = 13.8, p = 0.001) and correlated positively with coccoid proportion (r = 0.267, p = 0.003). Corpus crypt H. pylori involvement differed significantly across groups (Group 1 41.8% vs. Group 2 29.2% vs. Group 3 11.1%; overall p = 0.045). In antrum, crypt involvement was higher in non-obese (36.8%) vs. obese biopsy patients (9.1%; p = 0.011). Coccoid proportion showed no significant correlation with patient age or inflammation grade. Multivariable logistic regression identified BMI as the sole independent predictor of corpus coccoid ≥ 10% (OR = 1.134 per 1 kg/m², 95% CI: 1.088-1.183, p &lt; 0.001; C-statistic = 0.849), with age and sex non-significant after adjustment.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Obesity was strongly associated with a coccoid-shifted H. pylori morphology (higher coccoid proportion) and with increased corpus crypt colonization. In this cohort the ≥ 40% coccoid category was observed exclusively in the severe obesity/sleeve group; this cut-off should be regarded as exploratory and hypothesis-generating, and requires external validation before it can be considered a histological signature of severe obesity. Because specimen type differed between groups and eradication outcomes were not assessed, these findings represent associations rather than causal relationships. IHC-based morphological assessment may be useful in ","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"21 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148891177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosing carcinoma origin in ultrasound-guided needle biopsies: a context-driven approach anchored in site-specific immunohistochemical markers.","authors":"Gratiana Hermann, Raluca Ghica, Rares Buiga, Iunia Cebotaru, Daniela Coza, Zeno Sparchez","doi":"10.1186/s13000-026-01807-6","DOIUrl":"https://doi.org/10.1186/s13000-026-01807-6","url":null,"abstract":"<p><strong>Background: </strong>In small-biopsy carcinomas, tumor-origin assignment often relies on limited tissue, clinical-radiologic context, morphology, and immunohistochemistry. Although site-specific markers are widely used to support tumor-origin assignment, how often such assignment is supported by site-specific-marker-anchored IHC without CK7/CK20 dependence in context-rich, non-CUP/MUO small-biopsy cohorts has been less explicitly addressed. We therefore audited selected small-biopsy carcinomas with a single-site origin assigned at sign-out, to assess how often tumor-origin assignment was supported by site-specific-marker-anchored IHC without CK7/CK20 dependence.</p><p><strong>Methods: </strong>We reviewed 154 consecutive small biopsies with IHC and analyzed the selected subset of carcinomas in which a single-site origin had been assigned at sign-out. We retrospectively audited the IHC markers used to support tumor-origin assignment, assessing IHC panel sufficiency, site-specific-marker-anchored support without CK7/CK20 dependence, and CK7/CK20 application, theoretical need, and incremental contribution.</p><p><strong>Results: </strong>The selected analytic cohort included 60 carcinomas: 13 primary tumors, 43 metastases, and 4 malignancies of unknown origin submissions. Tumor origin was assigned as breast in 25% (15/60), colorectal in 20% (12/60), lung in 18% (11/60), and liver/hepatocellular carcinoma in 17% (10/60); other origins accounted for 20% (12/60). Overall diagnostic IHC sufficiency was achieved in 95% (57/60). Site-specific markers were applied in all cases. A site-specific-marker-anchored IHC approach was sufficient for tumor-origin assignment in 93% (56/60) of cases. CK7/CK20 was performed in 48% (29/60) of cases, was retrospectively considered theoretically needed in 12% (7/60), and was contributive to final tumor-origin assignment in 2% (1/60).</p><p><strong>Conclusions: </strong>In this selected, context-rich, non-CUP/MUO small-biopsy cohort, tumor-origin assignment was supported in most cases (56/60, 93%) by site-specific-marker-anchored IHC without CK7/CK20 dependence; CK7/CK20 was selectively needed but showed limited incremental contribution beyond morphology, clinical/imaging context, and site-specific markers. This approach may have practical relevance for tissue-conscious IHC marker selection in small-biopsy workflows, alongside established pre-analytic standards. Further studies are warranted to confirm these findings, assess generalizability in broader biopsy settings, and evaluate diagnostic accuracy against external reference standards.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of factors associated with intraductal carcinoma of the prostate.","authors":"Motoki Yamagishi, Casey M Phan, Yoshihiro Nakagami, Akiko Tokunaga, So Murai, Toshiko Yamochi, Kazuhiko Oshinomi, Masakazu Nagata, Takashi Fukagai","doi":"10.1186/s13000-026-01804-9","DOIUrl":"https://doi.org/10.1186/s13000-026-01804-9","url":null,"abstract":"<p><strong>Background: </strong>Prostate cancer is a common malignancy. Intraductal carcinoma of the prostate (IDCP) is associated with poor prognosis, but is underreported in certain geographic regions. The presence of IDCP is recently recognized as an independent prognosticatior of poor prognosis. We aim to identify factors associated with IDCP on radical prostatectomy specimens to aid in more accurate diagnosis of IDCP.</p><p><strong>Methods: </strong>A retrospective study was conducted on specimens from Showa Medical University Hospital (Japan) and Queen's Medical Center (Hawaii) from April 2020 to March 2024. Clinical data included age, PSA, and race; pathological data included GS, GG, and factors indicated the extent of cancer (EPE, RM, LVI, PNI, SVI). IDCP was diagnosed morphologically; equivocal lesions underwent basal cell IHC. Statistical analyses identified factors associated with IDCP.</p><p><strong>Results: </strong>Among 279 cases, IDCP was found in 70 (25.1%). The IDCP-positive group had higher PSA levels (14.2 vs. 10.7 ng/ml, p = 0.048). Univariate and Multivariate analyses identified GS (OR: 16.41, p < 0.001), EPE (OR: 2.36, p = 0.02), and PNI(OR: 2.57, p = 0.02) remained independently associated.</p><p><strong>Conclusion: </strong>High grade (GS ≥ 8), EPE, and PNI serve as practical pathological triggers to scrutinize ducts and apply basal-cell IHC, which may reduce under-recognition of IDCP in RP specimens.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148454814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tissue-based detection of macrophage-associated YAP1-positive material in human acute liver injury: an exploratory immunopathological biopsy series.","authors":"Hiroteru Kamimura, Kenya Kamimura, Shuji Terai","doi":"10.1186/s13000-026-01805-8","DOIUrl":"https://doi.org/10.1186/s13000-026-01805-8","url":null,"abstract":"<p><strong>Background: </strong>Yes-associated protein 1 (YAP1), a downstream effector of the Hippo pathway, is implicated in hepatocellular stress, ductular reaction, and tissue repair. Experimental studies suggest that injured YAP1-activated hepatocytes can be cleared by Kupffer-cell phagocytosis, but corresponding human biopsy evidence remains limited.</p><p><strong>Methods: </strong>We retrospectively analyzed seven adults who underwent clinically indicated liver biopsy within 10 days of initial presentation or referral admission for acute liver injury. Liver biopsy sections were assessed by hematoxylin and eosin staining, periodic acid-Schiff-diastase staining, YAP1 immunohistochemistry, and double immunofluorescence for YAP1 and CD68. Macrophage-associated YAP1-positive structures were operationally defined as YAP1-positive signals located within or immediately adjacent to CD68-positive macrophages in portal or periportal areas. The definition was intended to capture spatial association and was not intended to prove intracellular phagocytosis, molecular co-expression, or endogenous YAP1 expression by macrophages. Associations with peak Model for End-Stage Liver Disease (MELD) score and days to alanine aminotransferase (ALT) normalization were evaluated as exploratory analyses.</p><p><strong>Results: </strong>The median age was 52 years, and etiologies included autoimmune hepatitis, primary biliary cholangitis-autoimmune hepatitis overlap, drug-induced liver injury, acute hepatitis B, and idiopathic acute liver injury. Liver biopsy was performed at a median of 5 days (range, 2-10 days) after initial presentation or referral admission. A median of nine portal tracts and five macrophage-associated YAP1-positive structures were evaluated per biopsy, yielding a median YAP1/CD68-positive portal-tract index of 58.3%. ALT normalized after a median of 26 days. The index showed a nominal inverse association with days to ALT normalization (Spearman rho = -0.86, p = 0.014; Pearson r = -0.79, p = 0.034), whereas MELD score was not significantly associated with the index or recovery time. Leave-one-out analyses retained the inverse direction but showed unstable significance because of the very small sample size.</p><p><strong>Conclusions: </strong>In this small exploratory biopsy series, YAP1-positive material was observed in spatial association with CD68-positive macrophages in early human acute liver injury. The YAP1/CD68-positive portal-tract index showed a hypothesis-generating relationship with biochemical recovery but should not be interpreted as a validated prognostic marker or proof of macrophage-mediated phagocytosis. Larger, etiology-specific studies with standardized biopsy timing, lineage markers, multiplex immunofluorescence, high-resolution imaging, and digital pathology are warranted.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148454912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation of P53 expression and TP53 mutation in stage I lung adenocarcinoma and the predictive value for postoperative recurrence within 5 years.","authors":"Jiting Di, Kang Qi, Gang Lin, Dong Li, Xin Li, Yan Xiong","doi":"10.1186/s13000-026-01802-x","DOIUrl":"https://doi.org/10.1186/s13000-026-01802-x","url":null,"abstract":"<p><strong>Objective: </strong>This study seeks to explore the correlation between P53 expression and TP53 mutations in stage I lung adenocarcinoma, while also assessing their predictive value for postoperative recurrence within 5 years.</p><p><strong>Methods and results: </strong>Next-generation sequencing (NGS) of the TP53 gene and immunohistochemistry (IHC) for P53 protein were performed on formalin-fixed paraffin-embedded (FFPE) tissue samples from 191 patients diagnosed with stage I lung adenocarcinoma. Two thresholds for P53 overexpression were established: 40% for predicting TP53 mutations, determined through ROC curve analysis, and 60% for predicting recurrence, utilizing X-tile software. We defined P53 mutant expression as either overexpression (>40%) or null-expression (0%) and P53 aberrant expression as overexpression (>60%). A significant association was found between P53 mutant expression and TP53 mutations (p < 0.001), demonstrating 87.9% sensitivity and 98.4% specificity, with a perfect concordance (κ = 0.882). No significant differences in survival outcomes were observed among the distinct P53 mutant expression patterns and TP53 mutation types. In survival analysis, pTNM stage, histopathology grade, P53 aberrant expression and TP53 missense mutation were recognized as independent prognostic factors in stage I lung adenocarcinoma.</p><p><strong>Conclusions: </strong>Based on our study's criteria, P53 mutant expression may serve as a surrogate marker for TP53 mutations, while P53 aberrant expression, along with TP53 missense mutation could potentially predict postoperative recurrence within five years for patients with stage I lung adenocarcinoma. The biomarkers of TP53 mutation, P53 mutant expression and P53 aberrant expression present opportunities for enhanced risk stratification and the formulation of personalized treatment strategies.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148454852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PRAME immunohistochemistry demonstrates high diagnostic accuracy for distinguishing melanoma from nevi but no observed association with pT stage in cutaneous melanoma: a Vietnamese clinicopathological study.","authors":"Giang Huong Tran, Duyen Hoang-My Truong, Lam Ngoc Nguyen, Tu Anh Thai, Khoa Anh Luong","doi":"10.1186/s13000-026-01806-7","DOIUrl":"https://doi.org/10.1186/s13000-026-01806-7","url":null,"abstract":"<p><strong>Background: </strong>PRAME immunohistochemistry is a useful adjunct in distinguishing melanoma from benign melanocytic lesions, but its clinicopathologic associations remain incompletely understood, particularly in underrepresented populations.</p><p><strong>Methods: </strong>This retrospective study included 90 primary melanomas and 90 melanocytic nevi from a Vietnamese cohort. PRAME expression (clone EPR20330) was assessed using a semi-quantitative scoring system: 0 (0%), 1+ (1-25%), 2+ (26-50%), 3+ (51-75%), and 4+ (> 75% of tumor cells with nuclear positivity), with 4 + defined as high expression. Diagnostic performance was evaluated using receiver operating characteristic (ROC) analysis, and associations with clinicopathologic variables were analyzed using logistic regression.</p><p><strong>Results: </strong>The mean age of melanoma patients was 56.4 ± 15.9 years, with a median tumor size of 30 mm. Nodular melanoma was the most common subtype (60%), and mucosal melanoma accounted for 15.6%. Adverse features were common, including Breslow thickness > 1 mm (87.8%), mitotic rate > 1/mm² (85.6%), and ulceration (36%). High PRAME expression was observed in 73.3% of melanomas, whereas 97.8% of nevi were negative and none showed PRAME ≥ 2+. PRAME demonstrated excellent diagnostic performance (AUC 0.936), with sensitivity, specificity, and accuracy of 87.8%, 97.8%, and 92.8% at a cutoff of ≥ 1+. Tumor size > 12 mm was independently associated with high PRAME expression in the overall cohort but not in cutaneous melanoma. No statistically significant associations were observed between PRAME expression and tumor stage in cutaneous melanoma.</p><p><strong>Conclusions: </strong>In this predominantly advanced-stage Vietnamese cohort, PRAME immunohistochemistry showed high sensitivity and specificity in distinguishing melanoma from nevi; its performance in early or thin melanomas and its broader clinicopathologic significance remain to be clarified in future studies.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148454837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrating ANP32A expression with Ann Arbor stage refines prognostic stratification in extranodal NK/T-cell lymphoma.","authors":"Yajun Huo, Zhiqi Zhang, Enjie Liu, Guannan Wang, Wugan Zhao, Dandan Zhang, Yanping Zhang, Yifan Shang, Huimin Du, Jun Yu, Chongli Zhang, Susu Lu, Wencai Li","doi":"10.1186/s13000-026-01801-y","DOIUrl":"https://doi.org/10.1186/s13000-026-01801-y","url":null,"abstract":"<p><strong>Aims: </strong>To investigate the expression of acidic leucine-rich nuclear phosphoprotein 32 family member A (ANP32A) in extranodal NK/T-cell lymphoma (ENKTL) and to evaluate its relationship with clinicopathological characteristics, proliferative activity, and prognosis.</p><p><strong>Methods: </strong>A total of 63 patients with ENKTL diagnosed at the First Affiliated Hospital of Zhengzhou University between 2012 and 2021 were retrospectively included. Reactive lymphoid tissue from the nasopharynx was used as the control tissue. Immunohistochemistry was performed to detect ANP32A expression in ENKTL and control tissues. The association between ANP32A expression and clinicopathological characteristics, Ki-67 index, and patient survival was analyzed. Kaplan-Meier survival analysis, univariate and multivariate Cox regression analyses, and receiver operating characteristic (ROC) curve analysis were performed to assess the prognostic significance of ANP32A.</p><p><strong>Results: </strong>Among the 63 patients with ENKTL, there were 42 males and 21 females, with a median age of 50 years (range, 12-80 years). Compared with control tissues, ANP32A expression was increased in ENKTL tissues, and positive staining was mainly localized in the nuclei of tumor cells. According to the modified H-score, 23 cases showed high ANP32A expression and 40 cases showed low expression. High ANP32A expression was significantly associated with advanced Ann Arbor stage, higher Prognostic Index for Natural Killer Lymphoma (PINK) score, elevated β2-microglobulin level, and high Ki-67 index (all P < 0.05). Spearman correlation analysis showed a weak positive correlation between ANP32A expression and Ki-67 index (r = 0.330, P < 0.01). Kaplan-Meier analysis showed that patients with high ANP32A expression had significantly shorter overall survival (OS) than those with low expression (log-rank P < 0.0001). Univariate Cox regression analysis showed that high ANP32A expression was associated with poor prognosis (hazard ratio(HR) = 4.55; 95% confidence interval (CI), 2.50-8.52; P < 0.001). Multivariate Cox regression analysis further demonstrated that ANP32A high expression remained an independent adverse prognostic factor (HR = 3.61, 95% CI: 1.95-6.89, P < 0.001). ROC analysis showed that the area under the curve (AUC) of ANP32A alone for predicting OS was 0.776, which was higher than that of Ann Arbor stage alone (AUC = 0.667); when combined with Ann Arbor stage, the AUC increased to 0.800.</p><p><strong>Conclusions: </strong>ANP32A is increased in ENKTL and is associated with aggressive clinicopathological features, increased proliferative activity, and poor survival outcome. ANP32A may serve as a useful supplementary prognostic marker in ENKTL and may provide additional prognostic information when combined with Ann Arbor stage.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148411011","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unlocking thalidomide response as a hemoglobin F augmentation agent in transfusion-dependent β-thalassemia: the genetic impact of BCL11A, HBS1L-MYB, and XmnI polymorphism.","authors":"Iram Nazir, Muhammad Younus Jamal Siddiqi, Maeesa Wadood, Muhammad Rizwan","doi":"10.1186/s13000-026-01797-5","DOIUrl":"https://doi.org/10.1186/s13000-026-01797-5","url":null,"abstract":"<p><strong>Background: </strong>Thalidomide has been found to augment fetal hemoglobin (HbF) synthesis, thereby decreasing transfusion requirements in patients with β-thalassemia. Elevated fetal hemoglobin, influenced by genetic polymorphisms, can significantly modify the clinical severity of β-thalassemia. The study aimed to determine the frequency of the XmnI (rs7482144), BCL11A (rs766432), and HBS1L-MYB (rs9399137) polymorphisms in patients with β-thalassemia and to evaluate their association with the response to thalidomide therapy.</p><p><strong>Methods: </strong>This prospective observational study was conducted at Baqai Medical university. One hundred transfusion-dependent β-thalassemia patients on low-dose thalidomide (2 mg/kg/day) were enrolled from Muhammadi blood bank and diagnostics center, Karachi. The outcome measures of response were defined as an increase in hemoglobin (Hb) levels and reduction in blood transfusion frequency following three months of thalidomide treatment, based on which participants were classified as excellent responders, good responders, or non-responders. The Xmn1 (rs7482144), BCL11A (rs766432) and HBS1L-MYB (rs9399137) single nucleotide polymorphisms (SNPs) were detected using the Amplification Refractory Mutation System Polymerase chain reaction (ARMS-PCR).</p><p><strong>Results: </strong>Among the 100 patients, the rs7482144 was present in 68% of cases, rs766432 in 47%, and rs9399137 in 20%. Following three months of thalidomide treatment, Hb levels (9.3 ± 1.5 g/dl) increased significantly compared to baseline levels (5.4 ± 1.6 g/dl) (p<.001). An overall response rate of 87% was recorded. Results showed that minor allele-containing genotypes of three SNPs were significantly associated with an increased likelihood of excellent response [rs7482144: p=.001, RR:1.733; rs766432: p<.001, RR:3.070; rs9399137: p=.023, RR:4.043]. Post-treatment HbF increment was correlated with the cumulative number of minor alleles across the three significant SNPs among excellent responders, with HbF being lower in individuals having ≤ 1 polymorphism (74.0%±19.2%) compared with those carrying 2 (83.0%±8.6%; p=.033) or 3 polymorphisms (97.3%±0.5%; p=.01).</p><p><strong>Conclusion: </strong>Our study indicates that SNPs within HBG2(rs7482144), BCL11A(rs766432), and HBS1L-MYB (rs9399137) region are strongly associated with thalidomide responsiveness in β-thalassemia patients, with the overall number of minor alleles serving as a potential marker for therapeutic response.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148404039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}