Diagnostic Pathology最新文献

{"title":"Pulmonary metastasis of nasal cavity DEK::AFF2 squamous cell carcinoma: case report and diagnostic insights.","authors":"Yongqi Chen, Mengjie Lu, Zhenkui Sun, Kun Liu, Jiao Meng, Huaru Yan, Bin Chang","doi":"10.1186/s13000-026-01760-4","DOIUrl":"10.1186/s13000-026-01760-4","url":null,"abstract":"<p><p>DEK::AFF2 fusion carcinoma is an emerging sinonasal tract non-keratinizing squamous cell carcinoma (SCC) variant, characterized by deceptively bland morphology, frequent local recurrence, and metastasis in a subset of cases. Owing to its histologic mimicry, misdiagnosis remains common. We report a case of DEK::AFF2 neoplasm exhibiting malignant histological evidence strictly confined to the pulmonary “metastatic” lesion despite persistent benign radiologic and pathologic features in six nasal cavity tumor resections over two decades in a 35-year-old male. The patient was initially diagnosed with inverted papilloma (IP) of the nasal cavity. Histopathologic reassessment of the lung lesions, however, demonstrated divergent morphology—hybrid SCC and IP-like components. Molecular studies (FISH, RNA-seq) confirmed identical DEK::AFF2 fusion in both nasal cavity and pulmonary tumors, supporting clonal spread. This case underscores that DEK::AFF2 sinonasal carcinomas can retain benign histology in primary and recurrent lesions while exhibiting overt malignancy in “metastatic” sites. For sinonasal papillomatous tumors, even if the primary tumor lacks overt malignant histological features, atypical clinical behaviors, such as persistent recurrence or development of distant similar lesions, should raise suspicion for DEK::AFF2 SCC. DEK FISH or RNA sequencing should be considered for definitive diagnosis when clinically indicated.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"18"},"PeriodicalIF":3.5,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12918259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146050823","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":"TTF-1, CDX-2, PAX-8 and GATA-3 immunoexpression in a large serie of extrapulmonary small cell neuroendocrine carcinomas: a study of 138 cases.","authors":"Klára Pavlíčková, Petr Waldauf, Pavel Dundr, Marián Švajdler, Pavel Fabian, Iva Staniczková Zambo, Miroslava Flídrová, Jan Laco, Helena Hornychová, Patricie Delongová, Jozef Škarda, Jan Hrudka, Radoslav Matěj","doi":"10.1186/s13000-026-01753-3","DOIUrl":"10.1186/s13000-026-01753-3","url":null,"abstract":"<p><p>BACKGROUND: Extrapulmonary small cell neuroendocrine carcinoma (EP-SC) is a rare malignancy with a poor prognosis. In our study, one hundred and thirty-eight EP-SCNC tissue samples underwent a complex analysis. METHOD: Multicentric study included 138 high-grade small cell carcinomas exhibiting neuroendocrine morphology without known pulmonary involvement. Using TMA, we studied the possible benefit of TTF-1 (DAKO, clone 8G7G3/1, dilution 1:200), CDX-2 (DAKO, ready to use kit DAK-CDX2), PAX-8 (Cell Marque, polyclonal, dilution 1:50) and GATA-3 (Cell Marque, clone L50-823, 1:200) immunohistochemical analyses for determining the primary site of EP-SCNC origin. For statistical analyses, the Kaplan-Meier, the Cox regressions analyses, the Pearson chi-square test and the Fisher’s exact test were used. RESULTS: The median survival of our cohort was 11.5 months. Patients younger than 70 years had significantly better overall survival (p = 0.024). Across the full cohort, CDX-2 positivity was found in 19 tumors (13.9%), TTF-1 in 35 tumors (25.7%), PAX-8 in 63 tumors (46.3%) and GATA-3 in 8 tumors (6.5%), regardless of tumor origin. The expression of CDX-2, PAX-8 and GATA-3 did not differ significantly among different organ systems (p = 0.2; 0.3 and 0.12), respectively. The expression of TTF-1 differed significantly in tumors from various sites of origin (p = 0.009), expressed more often in breast, pancreatic, and genitourinary tumors. Interestingly, TTF-1 expression proved to have a negative prognostic impact relative to patient survival (age-adjusted Cox regression analysis, HR = 1.62, 95%CI:1.06–2.47, p = 0.021). CONCLUSION: As most patients with EP-SCNC had a metastatic presentation, finding the primary tumor origin, which is important for patient prognoses, is both challenging and important at the same time. Only TTF-1 immunohistochemical analysis proved to be helpful with this task. Moreover, a diagnosis of primary lung small cell carcinoma cannot be established based on TTF-1 positivity, since only 25.7% of EP-SCNC in our study displayed TTF-1 positivity. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"9"},"PeriodicalIF":3.5,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12857084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146050800","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":"Clinical and molecular characteristics of constitutional mismatch repair deficiency syndrome: a case series of five children and appraisal of diagnostic guidelines.","authors":"Jennifer Vazzano Goldstone, Suzanna J Logan, Benjamin J Wilkins, Suzanne P MacFarland, Miriam Conces, Daniel R Boué, Christopher R Pierson, Samir Kahwash, Kathleen M Schieffer, Catherine E Cottrell, Susan Colace, Kristin Zajo, Archana Shenoy","doi":"10.1186/s13000-026-01759-x","DOIUrl":"10.1186/s13000-026-01759-x","url":null,"abstract":"<p><p>DNA mismatch repair (MMR) is critical for maintaining genome integrity through correction of single-base mismatches and insertion-deletion loops arising from DNA replication. Heterozygous germline alteration of MMR genes (MSH2, MSH6, MLH1, PMS2) cause autosomal dominant Lynch syndrome (LS), most commonly manifesting as colonic or endometrial cancers, although brain, ovarian, and other organ systems may be involved. Neoplasia in LS usually arises after the age of 30 years. Constitutional mismatch repair deficiency (CMMRD) is inherited in an autosomal recessive manner due to biallelic germline alteration in one of the four MMR genes. Individuals with CMMRD typically develop cancer in the first decade of life, although some may present during the second decade. We present a series of five children who developed cancer prior to the age of 20 years (range: 2-12 years) with malignancies including colonic adenocarcinoma (N = 1), T-lymphoblastic lymphoma (N = 3), and high-grade glioma (N = 4). Two patients with MSH6 alterations developed a constellation of three primary tumors: high-grade glioma, T-lymphoblastic lymphoma, and colonic neoplasia including colonic adenocarcinoma in one patient and a tubular adenoma in the other.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"17"},"PeriodicalIF":3.5,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12911382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146029017","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":"Benign prostatic hyperplasia to HPIN to carcinoma; the impact of mast cells and VEGF.","authors":"Oya Nermin Sivrikoz, Aşkın Eroğlu, Bilgin Öztürk, İncila Öztop, Salahattin M Sanal","doi":"10.1186/s13000-026-01749-z","DOIUrl":"10.1186/s13000-026-01749-z","url":null,"abstract":"<p><p>BACKGROUND: The process of transformation from Benign Prostatic Hyperplasia (BPH) to Prostate Cancer (PCa) is highly debatable; however, there is convincing information that it takes place in the background of inflammation. Multifocal high-grade prostatic intraepithelial neoplasia (HPIN), intraductal carcinoma (IDC-P), atypical intraductal proliferation (AIP), atypical adenomatous hyperplasia (AAH)/ adenosis, and proliferative inflammatory atrophy (PIA) are considered as precursor lesions during such transformation by Working Group 1 at the ISUP Cancer Precursors Meeting in September 2024. We specifically emphasize the need for further investigation of the inflammatory process, where stromal epithelial activity, angiogenesis, and mast cells are involved. In this study, we investigated the role of vascular endothelial growth factor (VEGF), and MCs during its progression from BPH to PCa. Additionally, we investigated the relationship between MCs and Gleason Grade Group (GG), as well as other prognostic variables. METHODS: Retrospectively, 100 PCa patients whose pathology included areas of BPH and multifocal HPIN close to cancerous tissue. All the specimens were stained with CD117 as an MC marker and VEGF to evaluate for angiogenesis. RESULTS: While there was overall intense MC infiltration in all areas of BPH in general, it was relatively less intense in areas of carcinomatous tissue. Nevertheless, MC infiltration intensified with higher GG. Similarly, with increasing MC infiltration in cancerous and HPIN tissues, VEGF staining also intensified, specifically in glandular areas. In HPIN areas, the relationship between MCs and VEGF was intermediate between BPH and cancerous areas, representing a progression. CONCLUSION: Stromal changes, stromal-epithelial interactions, and coexisting inflammatory changes are important elements in the development of BPH and PCa. We specifically investigated the intratumoral MC population and glandular VEGF staining intensity with increasing GG; thus, assessing the role of MCs and VEGF in tumor progression towards cancer development. MCs and VEGF staining characteristics in HPIN areas emphasize the efficient role these elements play in the transition of tissues from BPH to HPIN and eventually to PCa. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"10"},"PeriodicalIF":3.5,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12857034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146009057","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":"Histological features of liver biopsy in patients with COVID-19: a single institution experience with long term follow-up outcome.","authors":"Zhikai Chi, Naheed Moghal, Dinesh Rakheja, Lan Peng","doi":"10.1186/s13000-026-01767-x","DOIUrl":"10.1186/s13000-026-01767-x","url":null,"abstract":"<p><p>BACKGROUND: COVID-19 is caused by SARS-CoV2, which primarily produces respiratory disease. Although liver enzyme abnormalities are common in patients with COVID-19, little is known about histological changes in the liver. Most of the available information is based on autopsy studies, with limited liver biopsy studies in living patients. METHODS: Liver biopsies performed between March 2021 and September 2021 in patients with a history of COVID-19 were retrieved, and 17 biopsies were reviewed. Additionally, immunohistochemical staining for the SARS-CoV2 nucleocapsid protein was performed in all cases. The clinical follow-up period was 36 months. RESULTS: After reviewing the clinical data, the biopsies were grouped into three cohorts: (1) those with no underlying liver disease, (2) those with preexisting liver disease, and (3) those with liver post-transplant allografts. In patients without underlying liver disease, there were small clusters of debris-laden macrophages in the portal areas and lobules, as highlighted by periodic acid-Schiff and diastase staining. Increased mitosis and binucleated hepatocytes were common, and rare micro-abscesses were also observed. These findings indicated mild non-specific hepatitis, and no severe inflammatory infiltrates were observed in portal areas or lobules. These features are highly suggestive of hepatitis resolution. Patients with previous liver disease showed microscopic features compatible with underlying liver disease, without any additional features that could be attributed to COVID-19. Posttransplant allograft biopsies showed no special features that could be described as occurring solely due to COVID-19. All patients tested negative on SARS-CoV2 nucleoprotein immunostains. CONCLUSIONS: Liver biopsies performed after COVID-19 demonstrated a mildly resolved hepatitis-like pattern. 36 months after biopsy, all patients in Group 1 and all surviving patients in Group 2 and 3 presented normal liver enzyme levels. It is therefore, from this small case series, that the liver may not be the target of significant inflammatory damage in COVID-19 and that liver injuries are resolved over time. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"16"},"PeriodicalIF":3.5,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12905956/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146017779","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":"Sinonasal renal cell-like adenocarcinoma: a case report and literature review.","authors":"Li Chen, Wuwu Ding, Pei Xu, Hui Li, Yongji Zheng","doi":"10.1186/s13000-026-01761-3","DOIUrl":"10.1186/s13000-026-01761-3","url":null,"abstract":"<p><p>OBJECTIVE: Sinonasal renal cell-like adenocarcinoma (SNRCLA) is a rare sinonasal carcinoma that is easily misdiagnosed. We aimed to reveal clinical clinicopathological features, molecular genetic characteristics, treatment and prognosis of SNRCLA. METHODS : The pathological diagnosis and differential diagnosis of a case of SNRCLA and the literature was reviewed. RESULTS: Immunohistochemical analysis demonstrated positive expression of cytokeratin (CK)7, Sox-10, and carbonic anhydrase (CA)-IX, while negative expression was observed for CK20, CDX-2, Villin, Thyroid transcription factor(TTF)-1, Dog-1, Epstein–Barr virus viral capsid antigen (EBV-VCA), CD10,Renal cell carcinoma marker(RCC Ma), paired box(PAX)8, calponin, p63,and S-100. The positive proportion of Ki67 is less than 5%, and periodic acid-Schiff (PAS) staining confirmed glycogen content in the tumor cells. Epidermal growth factor receptor (EGFR) protein was overexpressed, but the EGFR gene was not mutated. The ETV6 gene was analyzed using fluorescence in situ hybridization (FISH) technology, but no rearrangement was detected. These mutations were detected using next-generation sequencing (NGS), including BRAF NM_004333:exon11 c.1357 C > G p.P453A, NM_000314:exon1 c.70_75del p.D24_L25del, MTOR NM_004958:exon39 c.5417 A > G p.H1806R, and PIK3CA NM_006218:exon5 c.1031T > G p.V344G. Following surgery and radiotherapy, no clinical or radiological evidence of recurrence or metastasis was observed during a follow-up period of 76 months. CONCLUSION: It is beneficial for diagnosis of SRCLC that clinical history, morphological characteristics and immunohistochemistry are combined. It is an indolent tumor, the potential for local recurrence requires individualized management and post-treatment surveillance. Meanwhile, It warrants further examination in molecular genetic characteristics. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"15"},"PeriodicalIF":3.5,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12906053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146009092","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":"ESM1 and protein lysine L-lactylation modification (Pan-kla) in ovarian cancer: coexpression, clinical significance, and prognostic value.","authors":"Wenchao Zhou, Yang Zhou, Tian Zeng, Zhenqin Gao, Yi Deng, Yukun Li, Xiyun Quan","doi":"10.1186/s13000-026-01748-0","DOIUrl":"10.1186/s13000-026-01748-0","url":null,"abstract":"<p><p>BACKGROUND: Ovarian cancer (OC) remains a highly lethal gynaecologic malignancy. Endothelial cell-specific molecule 1 (ESM1) and protein lysine L-lactylation modification (Pan-kla) are key players in tumour microenvironment regulation, which involves metabolic reprogramming, angiogenesis, and immune modulation. However, their coexpression patterns, clinical relevance, and synergistic prognostic impact in OC patients have not been fully elucidated. METHODS: In this study, immunohistochemistry (IHC) was used to analyse ESM1 and Pan-kla expression in 131 ovarian cancer tissue samples from patients diagnosed between 2014 and 2024. Clinical parameters (e.g., FIGO stage, CA125 level, and ascites) and survival data were collected. Statistical analyses, including Kaplan–Meier survival and risk stratification, were performed using R software. RESULTS: ESM1 and Pan-kla were significantly overexpressed in OC tissues, with a strong positive correlation (P < 0.0001). High expression of both biomarkers was associated with adverse clinical features: advanced FIGO stage, elevated CA125 levels, and malignant ascites. Survival analysis revealed that high ESM1 expression increased the risk of death, whereas high Pan-kla expression increased the risk. Patients exhibiting combined ESM1/Pan-kla expression were stratified into four prognostic subgroups, with the dual-high group exhibiting the worst survival (P < 0.001). CONCLUSION: ESM1 and Pan-kla synergistically promote OC progression through metabolic–epigenetic cross-regulatory mechanisms. Their combined assessment provides robust prognostic stratification and reveals potential targets for overcoming therapeutic resistance in ovarian cancer. </p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"14"},"PeriodicalIF":3.5,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12895697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003229","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":"Immunohistochemical expression of CANT1 and B3GNT3 in invasive ductal carcinoma of the breast: diagnostic and prognostic significance in lymph node metastasis.","authors":"Dalia Mostafa Thabet, Al Shaimaa Wagdy Kassem Abu Bakr","doi":"10.1186/s13000-025-01745-9","DOIUrl":"10.1186/s13000-025-01745-9","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer is a leading global health concern, with lymph node metastasis (LNM) being a key prognostic factor affecting patient outcomes. Glycosylation-related enzymes such as calcium-activated nucleotidase 1 (CANT1) and Beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3) have been implicated in tumour progression, yet their roles in breast cancer, particularly invasive ductal carcinoma (IDC), are not well defined. This study investigates the immunohistochemical expression and correlation of CANT1 and B3GNT3 in IDC and their potential role in predicting LNM and clinical outcomes.</p><p><strong>Materials and methods: </strong>Slides from paraffin blocks of 140 IDC cases and 108 corresponding metastatic axillary lymph nodes were stained with CANT1 and B3GNT3 antibodies. Associations between markers' immunoreactivity and clinicopathological variables were evaluated. Progression-free survival (PFS) was analysed using the Kaplan-Meier method. The prognostic significance of each variable was evaluated using both univariate and multivariate Cox proportional hazards regression analyses.</p><p><strong>Results: </strong>High CANT1 and B3GNT3 expression was observed in 47.1% and 45.7% of cases, respectively. Both markers were significantly associated with tumour grade, tumour stage, Nottingham prognostic index, lymph node status, lymph node ratio, Her2 status, Ki-67 proliferative index and distant metastasis. A significant positive correlation was found between CANT1 and B3GNT3 expression (p < 0.001). Co-expression of both markers was strongly associated with LNM, along with a significant difference in the expression levels of each marker between primary tumours and corresponding LNM. Univariate analysis showed that tumour grade, stage, ER status and high B3GNT3 expression were all significantly associated with worse PFS. Multivariate Cox regression identified B3GNT3 expression, tumour grade and tumour stage as independent predictors of poor prognosis in IDC. High expression levels of CANT1 and B3GNT3 were associated with reduced PFS across all IDC cases (p = 0.035 and p = 0.001, respectively).</p><p><strong>Conclusions: </strong>High CANT1 and B3GNT3 expressions are associated with aggressive clinicopathological features in IDC and predict unfavourable outcomes. These markers may serve as potential prognostic indicators and independent predictors of LNM in IDC patients.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"12"},"PeriodicalIF":3.5,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12866187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145988773","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 and significance of IL-27 and IL-35 in orbital fat in patients with severe TAO.","authors":"Bing Wang, Zhixian Xu, Xiaofei Zhao, Lijuan Zhang, Han Zhang","doi":"10.1186/s13000-025-01742-y","DOIUrl":"10.1186/s13000-025-01742-y","url":null,"abstract":"<p><p>To detect the expression of Interleukin-27 (IL-27) and Interleukin-35 (IL-35) in orbital fat in patients with severe TAO (thyroid-related eye disease) exophthalmos, and to investigate its potential role and significance in the development of TAO. A study group of 30 patients (30 eyes) who underwent orbital decompression with severe TAO exophthalmos in the Department of Ophthalmology, Provincial Hospital affiliated to Shandong First Medical University from January 2022 to December 2023, the expression of IL-27 and IL-35 of the orbital adipose tissue was detected by western-blot, and which in 30 patients (30 eyes) underwent orbital fracture surgery and plastic repair as control group. The contents of IL-27 and IL-35 were higher in severe TAO patients than in normal controls, and the difference was significant (P < 0.01). IL-27 and IL-35 are significantly increased in the orbital fat of TAO patients with severe protrusion, suggesting that these two cytokines play key roles in the regulation of orbital fat dysplasia and the inflammatory process of TAO, and their expression has certain clinical value in the evaluation of TAO disease.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":" ","pages":"11"},"PeriodicalIF":3.5,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12857079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145905828","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":"Langerhans cell histiocytosis manifesting at birth: a neonatal case with BRAF V600E mutation.","authors":"Wenyan Tang, Ping Wang","doi":"10.1186/s13000-025-01737-9","DOIUrl":"10.1186/s13000-025-01737-9","url":null,"abstract":"<p><strong>Background: </strong>Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by clonal proliferation of abnormal Langerhans cells. We report a case of neonatal LCH diagnosed shortly after birth, an exceptionally early presentation in the neonatal period that is exceedingly rare. The BRAF V600E mutation was detected in this neonate.</p><p><strong>Case presentation: </strong>We report a full-term male neonate delivered via forceps assistance. Within 24 hours of birth, a firm 1×1 cm subcutaneous nodule on the left medial thigh progressively enlarged and ulcerated. By postnatal day 19, a dark red non-blanchable papule appeared on the left sole and rapidly spread to postauricular, cervical, truncal, and palmar regions, developing multiple ulcerative lesions. Skin biopsy confirmed Langerhans cell histiocytosis (LCH), with immunohistochemistry demonstrating diagnostic markers CD1a(+), Langerin(+), and S-100(+). Molecular testing detected the BRAF V600E mutation. Based on the early onset of the disease, rapidly progressive multifocal ulcerative skin lesions, and the presence of a high-risk BRAF mutation suggesting potential systemic dissemination, we initiated induction chemotherapy with vincristine combined with prednisone. Following treatment, the skin lesions resolved completely. The child is now 30 months old. During follow-up, an episode of otitis media occurred, but no recurrence or systemic organ involvement has been observed since.</p><p><strong>Conclusion: </strong>In this neonate, the initial localized skin lesions suggested potential spontaneous resolution. However, subsequent detection of the poor-prognosis BRAF V600E mutation indicated risk of systemic dissemination, prompting initiation of combination chemotherapy. Skin lesions resolved completely following vinblastine/prednisone therapy. Otitis media (an extracutaneous manifestation) emerging during follow-up further validated the treatment necessity, with no recurrence or new systemic manifestations observed thereafter.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"133"},"PeriodicalIF":2.3,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12751925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145855010","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}