Diagnostic Pathology最新文献

{"title":"Long-chain fatty acyl CoA synthetase 4 expression in pancreatic cancer: a marker for malignant lesions and prognostic indicator for recurrence.","authors":"Daiki Uchihara, Shohei Shimajiri, Yoshikazu Harada, Keiichiro Kumamoto, Shinji Oe, Koichiro Miyagawa, Koichi Nakamura, Eisuke Katafuchi, Fariza Nuratdinova, Yuichi Honma, Michihiko Shibata, Masaru Harada, Toshiyuki Nakayama","doi":"10.1186/s13000-025-01659-6","DOIUrl":"https://doi.org/10.1186/s13000-025-01659-6","url":null,"abstract":"<p><strong>Background: </strong>Long-chain fatty acyl CoA synthetase 4 (ACSL4) is crucial for lipid metabolism, primarily catalyzing the formation of 12-20 carbon chain fatty acids. ACSL4 is upregulated in various cancers and linked to aggressive behavior and poor survival. A bioinformatics study showing ACSL4 upregulation in pancreatic cancer. However, utility for actual pathological diagnosis and clinical significance in pancreatic ductal adenocarcinoma (PDAC) and intraductal papillary mucinous neoplasm (IPMN) are unexplored. This study aimed to investigate ACSL4 expression in PDAC and IPMN, and evaluate its clinical implications.</p><p><strong>Methods: </strong>We examined ACSL4 expression using immunohistochemistry in 165 patients with PDAC and IPMN. Differences in ACSL4 expression between malignant and benign lesions were evaluated using the Pearson χ2 test. The association between ACSL4 expression, pathological parameters, and survival was assessed through Kaplan-Meier and Cox regression analyses in 96 patients with invasive cancer.</p><p><strong>Results: </strong>Compared to normal pancreatic ducts, low-grade pancreatic intraepithelial neoplasm, and intraductal papillary mucinous adenoma (IPMA) (3.3%, 3.4%, and 2.7%, respectively), ACSL4 expression was significantly higher in invasive PDAC, noninvasive intraductal papillary mucinous carcinoma (IPMC), and invasive IPMC (77%, 86.7%, and 93.9%, respectively). In invasive cancers, low ACSL4 expression was associated with a higher frequency of lymphovascular invasion and recurrence and shorter disease-free survival (P = 0.006). Additionally, low ACSL4 expression was an independent prognostic factor for shorter disease-free survival in multivariable Cox regression analysis (HR = 2.409, 95% CI: 1.121-5.180, P = 0.024).</p><p><strong>Conclusion: </strong>ACSL4 expression helps differentiate cancerous from precancerous lesions in pancreatic cancer, but low expression is linked to a higher frequency of lymphovascular invasion and shorter disease-free survival in invasive cases. Due to the limited sample size and broad confidence intervals, the findings of this study should be interpreted with caution and require validation in larger, independent cohorts.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"59"},"PeriodicalIF":2.4,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12065365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959159","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":"Retroperitoneal mucinous cystadenoma with neuroendocrine differentiation: a rare case and comprehensive approach to diagnosis and management.","authors":"Yen Ho, Wei-Yu Chen, Chung-Howe Lai, Syuan-Hao Syu","doi":"10.1186/s13000-025-01658-7","DOIUrl":"https://doi.org/10.1186/s13000-025-01658-7","url":null,"abstract":"<p><strong>Background: </strong>Retroperitoneal mucinous cystadenomas are exceptionally rare neoplasms, with limited cases reported in the literature. The occurrence of neuroendocrine differentiation in such tumors is even more uncommon, posing unique diagnostic and management challenges.</p><p><strong>Case presentation: </strong>We report a case of a 32-year-old woman who was incidentally diagnosed with a right retroperitoneal cyst during routine prenatal ultrasonography. The patient remained asymptomatic until postpartum, prompting further evaluation of the cyst. Imaging studies identified a large cystic mass, ultimately leading to diagnostic laparoscopy and surgical excision. Histopathological analysis confirmed the diagnosis of a mucinous cystadenoma with neuroendocrine cell proliferation.</p><p><strong>Discussion: </strong>This case highlights the complexity of diagnosing and managing retroperitoneal mucinous cystadenomas, particularly those with neuroendocrine features. Given the rarity of these tumors, thorough histopathological examination is crucial to differentiate them from other cystic lesions. Surgical excision remains the definitive treatment, with long-term follow-up essential to ensure complete resolution and monitor for recurrence or malignant transformation.</p><p><strong>Conclusion: </strong>Retroperitoneal mucinous cystadenomas with neuroendocrine differentiation represent a rare clinical entity requiring careful evaluation. This report underscores the importance of considering neuroendocrine differentiation in retroperitoneal cystic lesions and emphasizes the role of complete surgical excision followed by close monitoring to ensure favorable outcomes.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"58"},"PeriodicalIF":2.4,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968950","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":"Diagnostic insights into solid pseudopapillary neoplasms of the pancreas: a decade of experience with pediatric representation.","authors":"Noura A A Ebrahim, Moamen O Othman, Rasha A Salama, Dalia Abdelfatah, Neveen S Tahoun","doi":"10.1186/s13000-025-01648-9","DOIUrl":"https://doi.org/10.1186/s13000-025-01648-9","url":null,"abstract":"<p><strong>Background: </strong>Solid pseudopapillary neoplasms (SPNs) of the pancreas are rare, low-grade malignancies that predominantly affect young females. Their diagnosis is often facilitated by a characteristic histomorphological pattern and immunohistochemical profile. However, diagnostic challenges persist, especially in pediatric and atypical presentations. Recent attention has focused on the diagnostic value of CD99 and LEF1 in distinguishing SPNs from other pancreatic neoplasms.</p><p><strong>Objective: </strong>To evaluate the diagnostic accuracy and utility of CD99 and LEF1 as immunohistochemical markers for SPNs.</p><p><strong>Methods: </strong>A retrospective analysis of 60 SPN cases diagnosed between 2015 and 2024 was performed. Histopathological features were systematically reviewed, and immunohistochemical staining for CD99, LEF1, β-catenin, Cyclin D1, PR, Ki-67 was evaluated. Immunohistochemical marker interpretation was standardized using internally validated thresholds informed by existing literature: CD99 was considered positive with ≥ 10% cytoplasmic staining exhibiting paranuclear accentuation; β-catenin positivity was defined by ≥ 5% nuclear localization; Cyclin D1 by ≥ 10% moderate-to-strong nuclear staining; and progesterone receptor (PR) expression by ≥ 1% nuclear positivity, consistent with hormone receptor evaluation guidelines. Marker expression was statistically analyzed for their associations.</p><p><strong>Results: </strong>SPNs exhibited a strong female predilection (F:M ratio ≈ 7:1), with a mean age of 32.5 years. Pediatric cases (n = 4) displayed higher mean expression of CD99 (73.8%) and LEF1 (86.5%) compared to adults. CD99 showed cytoplasmic positivity with paranuclear accentuation in 96.7% of cases, while LEF1 demonstrated nuclear staining in 91.7%. β-catenin nuclear localization was observed in 95% of tumors, reflecting Wnt/β-catenin pathway activation. Cyclin D1 and PR were expressed in 90% and 88.3% of cases, respectively. Co-expression of β-catenin, CD99, LEF1, Cyclin D1, and PR was observed in 73.3% of tumors. CD99 and LEF1 inversely correlated with tumor size and proliferative activity (Ki-67), whereas Cyclin D1 and Ki-67 positively correlated with tumor size and lymphovascular invasion (LVI). Pediatric tumors generally exhibited favorable profiles, with limited evidence of LVI.</p><p><strong>Conclusion: </strong>SPNs present with distinctive immunohistochemical signatures that are critical for accurate diagnosis, particularly in morphologically ambiguous or pediatric cases. CD99 and LEF1 are highly sensitive markers that, in combination with β-catenin and Cyclin D1, enhance diagnostic precision. These findings emphasize the central role of Wnt/β-catenin signaling in SPN pathogenesis and underscore the importance of integrating clinicopathological and molecular data for comprehensive tumor assessment.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"57"},"PeriodicalIF":2.4,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042314/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984222","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":"CD200 in acute myeloid leukemia: marked upregulation in CEBPA biallelic mutated cases.","authors":"Laura González-Guerrero, Helena Castellet, Clara Martínez, Nuria González, Francesca Guijarro, Natalia Lloveras, Marta Pratcorona, Ignasi Gich, Pau Berenguer-Molins, Júlia Perera-Bel, Lurdes Zamora, Martí Mascaró, Antonia Sampol, Antoni Garcia-Guiñón, Susana Vives, Mar Tormo, Montserrat Arnan, Neus Villamor, Josep F Nomdedéu","doi":"10.1186/s13000-025-01655-w","DOIUrl":"https://doi.org/10.1186/s13000-025-01655-w","url":null,"abstract":"<p><p>CD200 is a glycoprotein that binds with its receptor CD200R, providing immunosuppressive signals to T and NK cells. CD200 is expressed by normal stem cells and progenitors committed to B-lymphopoiesis and myeloid development. CD200 biological relevance in acute leukemias is only partially understood.The study included a consecutive series of four hundred thirty-one patients with acute myeloid leukemia (AML). Immunophenotype was established by multiparametric flow cytometry, and the genetic diagnosis was performed by PCR-based methods and a targeted resequencing method covering 42 genes.66% of AML patients expressed CD200 being significantly associated with CD34 reactivity. The frequency of CD200 positivity was higher in cases with core-binding factor genetic lesions such as RUNX1-RUNX1T1 (81.3%) fusions and CBFB-MHY11 (63.2%) rearrangements and also with biallelic CEBPA mutations (100%). The molecular AML group with the lowest CD200 reactivity (19.1%) corresponded to AML with NPM1 mutations. RNA seq showed no uniform pattern of infiltrating cells in CEBPA mutated AML. Deconvolution analysis may be used to assess the immunoregulatory mechanisms of AML.CD200 expression could help identify the more immature compartment and, combined with other markers, single out CEPA-mutated AML.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"56"},"PeriodicalIF":2.4,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12042300/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143959158","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":"Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.","authors":"Zhuoyao Lyu, Yilin Liu, Jingci Chen, Pengyan Wang, Zhaohui Lu, Xiaoyan Chang, Xianlong Chen, Heng Ma, Shengwei Mo, Shuangni Yu, Jie Chen","doi":"10.1186/s13000-025-01657-8","DOIUrl":"https://doi.org/10.1186/s13000-025-01657-8","url":null,"abstract":"<p><strong>Background: </strong>Sertoli-Leydig cell tumors (SLCTs) are a rare group of sex cord-stromal tumors that account for less than 0.5% of all ovarian tumors. This study aims to compare the pathological and clinical characteristics of SLCTs with and without DICER1 hotspot mutations, highlighting the impact of these genetic variations on clinical manifestation, prognosis, and pathological morphology.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 50 SLCTs. DICER1 RNase IIIb hotspot mutations were detected by the Sanger sequence. Clinical information, such as patients' symptoms, tumor staging, prognosis, and pathological features, such as tumor differentiation and growth patterns, were collected.</p><p><strong>Results: </strong>DICER1 mutation only appears in the intermediate/poorly differentiated SLCTs (35.7%), while none in the well-differentiated SLCTs. The patients with DICER1 mutation had a younger age of onset (17, 15-25) compared to the wild-type group (42, 27-58). Regarding pathological morphology, the mutant group showed a higher probability of having retiform components (40.0%) and cords or ribbon-like arrangement (33.3%). Besides, they exhibited mucinous edematous stroma (80.0%) and hemorrhage (80.0%) more frequently than the wild-type group. The mutant tumor had more mitotic figures. (11/10HPF), higher Ki-67 index (16.1%), and more CD20-positive cell infiltration. Patients of the mutant group were more likely to experience recurrence, and their tumors were more prone to rupture.</p><p><strong>Conclusions: </strong>This study demonstrates that DICER1-mutant and wildtype SLCTs have marked differences in pathological morphology and clinical manifestation. DICER1-mutatant SLCTs display worse prognosis, higher proliferative activity, and potentially more active immune microenvironments, which underscores the importance of genetic testing in diagnosing and assessing the prognosis of SLCTs.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"55"},"PeriodicalIF":2.4,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981422","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":"Acute fibrinous and organising pneumonia presenting with mass-like imaging: a case report.","authors":"Wei Zhou, Longyun Zhang, Bin Xu, Chuanhai Wang","doi":"10.1186/s13000-025-01654-x","DOIUrl":"https://doi.org/10.1186/s13000-025-01654-x","url":null,"abstract":"<p><strong>Objective: </strong>This case report describes a patient with acute fibrinous and organising pneumonia (AFOP) presenting with mass-like imaging on chest computed tomography (CT), aiming to enhance clinical awareness of this rare disease.</p><p><strong>Case presentation: </strong>A 66-year-old man presented with cough, sputum, chest tightness and weight loss persisting for 1 month. Chest X-ray revealed a space-occupying lesion in the left lung. Further CT imaging demonstrated irregular soft tissue masses in both the upper and lower lobes of the left lung. Although the imaging findings suggested lung cancer, the final pathological diagnosis confirmed AFOP. The patient was treated with methylprednisolone, resulting in substantial improvement of the upper lobe lesion, whereas the lower lobe lesion showed minimal response. Following the addition of mycophenolate mofetil, the lower lobe lesion decreased substantially. Multiple lung biopsies confirmed the diagnosis of AFOP, with no evidence of a malignant tumour.</p><p><strong>Conclusions: </strong>Acute fibrinous and organising pneumonia presents with non-specific imaging findings, and when manifesting as a mass-like lesion, it may be misdiagnosed as lung cancer. Pathological examination remains essential for diagnosis. Close monitoring of the clinical response is crucial during treatment, and the treatment plan should be tailored to individual patient needs.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"53"},"PeriodicalIF":2.4,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12034166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968949","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 analysis of lymphoma with malignant solid tumor simultaneously: a retrospective case series.","authors":"Ning Zhu, Yuan Gao, Yu Pan, Liling Song, Yan Yang, Ying Yin, Yunjun Wang, Liyan Zhang, Shishou Wu, Guohua Yu","doi":"10.1186/s13000-025-01653-y","DOIUrl":"10.1186/s13000-025-01653-y","url":null,"abstract":"<p><p>This study aimed to investigate the clinical features and potential pathogenesis of lymphoma complicated with malignant solid tumors. Clinical data from 35 patients treated at Yantai Yuhuangding Hospital between January 2018 and March 2023 were retrospectively analyzed. Among 1726 lymphoma patients, 35 (2.03%) were found to have solid tumors, including 22 males and 13 females, with a median age of 62 years (range: 49-83 years). The lymphoma subtypes included 14 cases of diffuse large B-cell lymphoma (DLBCL), 8 cases of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL), 7 cases of marginal zone lymphoma (MZL), 3 cases of peripheral T-cell lymphoma (PTCL), 2 cases of follicular lymphoma (FL), and 1 case of Waldenström macroglobulinemia (WM). The solid tumors included 9 cases of papillary thyroid carcinoma (PTC), 8 cases of colorectal cancer (CRC), 7 cases of lung cancer (LC), 5 cases of gastric cancer (GC), 2 cases of prostate cancer (PCa), and 1 case each of breast cancer (BC), clear cell renal cell carcinoma (ccRCC), pharyngeal squamous cell carcinoma (PSCC), and bladder cancer (BLCA). Lymphoma with solid tumors is rare, often affecting elderly males. Non-Hodgkin's lymphoma, especially DLBCL, was the most common subtype, and PTC was the most frequent solid tumor. Clinicians should focus on these cases to improve diagnosis and treatment.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"54"},"PeriodicalIF":2.4,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12034125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987435","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":"Molecular subtyping of endometrial cancer via a simplified one-step NGS classifier, ARID1A and ZFHX4 mutations help further subclassify CNL/MSI-H patients.","authors":"Qiuli Teng, Zeng Yuan, Yulong Mu, Xinyue Ma, Shuaixin Wang, Chenggong Sun, Linhan Chin, Zhan Huang, Changbin Zhu, Aijun Yin, Ruifen Dong","doi":"10.1186/s13000-025-01652-z","DOIUrl":"https://doi.org/10.1186/s13000-025-01652-z","url":null,"abstract":"<p><strong>Background: </strong>Molecular subtyping has changed the prognostic stratification and therapeutic guidance for patients with endometrial cancer (EC). However, simultaneous application of sanger sequencing and immunohistochemistry under ProMisE criteria may be time- and tissue-consuming. This study attempted to measure subtype-specific biomarkers by one-step next-generation sequencing (NGS) resulting in a shorter turnaround time and less requirement of tissue samples.</p><p><strong>Methods: </strong>FFPE samples from 233 EC patients were retrospectively collected. Overall survival (OS) information was available for 131 patients with a median follow-up of 66 months. Genomic DNA was extracted and subjected to a one-step NGS panel including TP53, POLE and MSI measurement. Further comprehensive genomic analyses were performed on DNA from MSI-H and copy number low (CNL) subtypes.</p><p><strong>Results: </strong>The molecular typing ratio of the 233 patients was 8.15% for POLE subtype, 18.88% for MSI-H subtype, 11.59% for copy number high (CNH) subtype and 61.37% for CNL subtype. The 10-year OS and disease-specific survival (DSS) rate was 100% in POLE subtype, while only 33.51% and 39.69% in CNH subtype. In patients with CNL and CNL/MSI-H subtypes, ARID1A and ZFHX4 mutations were significantly associated with worse prognosis respectively.</p><p><strong>Conclusion: </strong>This simplified one-step NGS panel can effectively subgroup EC patients into four prognostically different subtypes. New biomarkers are able to potentially refine the classification of patients with CNL/MSI-H subtypes into groups with distinct clinical outcomes.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"52"},"PeriodicalIF":2.4,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12023587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987082","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":"Gastric SMARCA4-deficient undifferentiated tumors: clinicopathological analysis of two cases in a single center.","authors":"Xiaolin Cheng, Shuyue Chen, Xushui Jiang, Tao Li, Hong Zhang, Fengbo Huang, Tianhui Bao","doi":"10.1186/s13000-025-01651-0","DOIUrl":"10.1186/s13000-025-01651-0","url":null,"abstract":"<p><strong>Objectives: </strong>Gastric SMARCA4-deficient undifferentiated tumors are rare and have a poor prognosis. We analyzed two cases of gastric SMARCA4-deficient undifferentiated tumors with clinicopathologic characteristics, treatment and flow-up.</p><p><strong>Methods: </strong>Immunohistochemistry was used to evaluate the expression of BRG1 (SAMRCA4), SMARCB1 (INI-1), CKpan, Ki-67, CD3, CD20, CD163, PD-1, and PD-L1 in gastric SMARCA4-deficient undifferentiated tumors. Additionally, the clinical characteristics, imaging features, diagnosis, and treatment were analyzed.</p><p><strong>Results: </strong>Two elderly male patients (69 and 61 years old) with a large ulcerated mass located in the gastric fundus and cardia. Histologically, the tumor is of low adhesion, diffusely infiltrating lamellar growth, without any percentage of epithelial differentiation zones, and with little stromal component. Tumor cells round, oval, a small amount of irregular shape, easy to see mitotic figures. Some of them had obvious nucleoli, and a few had multiple nucleoli. The cytoplasm varies, and some cells are more abundant. Significant vascular and neural invasion. BRG1(SMARCA4) was absent, INI-1 was present, and Ki-67 proliferation index was highly expressed (≥ 80%). The remaining sarcoma-specific markers were negative. In case 1, the epithelial markers were negative and the PD-L1 combined positive score was 5. In case 2, CKpan was weakly expressed in only a dozen cells, and the PDL1 CPS was 10. The two patients received chemotherapy and anti-PD1 immunotherapy after radical gastrectomy for gastric cancer. The postoperative follow-up time of the two patients was 16 (case 1) and 3 months (case 2), respectively. The general condition was good, no recurrence or metastasis was observed, and the plasma tumor markers were in the normal range.</p><p><strong>Conclusions: </strong>Large SMARCA4-deficient tumors are more likely to have massive necrosis on the surface, leading to negative biopsy results. This tumor has a diffuse lamellar growth and needs to be differentiated from a variety of tumors with similar morphology, such as lymphoma, malignant melanoma, neuroendocrine carcinoma and undifferentiated sarcoma. The tumor cells were negative or only slightly positive for CKpan increases the difficulty of pathological diagnosis of this disease. However, loss of BRG1 (SMARCA4) expression can confirm the diagnosis. Chemotherapy combined with anti-PD1 treatment may have potential benefits in the management of gastric SMARCA4-deficient undifferentiated tumors. However, given the rarity of these tumors and the limited number of cases in our study, further research with larger cohorts is needed to validate these preliminary results.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"51"},"PeriodicalIF":2.4,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143956645","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":"High B7-H3 protein expression in Medulloblastoma is associated with metastasis and unfavorable patient outcomes.","authors":"Patrícia Fontão, Gustavo Ramos Teixeira, Daniel Antunes Moreno, Rui Ferreira Marques, João Norberto Stavale, Suzana Maria Fleury Malheiros, Carlos Almeida Júnior, Bruna Minniti Mançano, Rui Manuel Reis","doi":"10.1186/s13000-025-01645-y","DOIUrl":"https://doi.org/10.1186/s13000-025-01645-y","url":null,"abstract":"<p><strong>Background: </strong>Medulloblastoma (MB) is the most common malignant brain tumor in children. Although the 5-year survival rate is approximately 70-80%, the current standard treatment results in severe and long-term side effects. The search for new anticancer immunotherapeutic targets has identified B7-H3 as a promising candidate in various solid tumors. However, the role of B7-H3 in MB remains unclear, and studies reporting its protein expression and association with clinicopathological characteristics are still limited.</p><p><strong>Methods: </strong>In this study, B7-H3 protein expression was evaluated by immunohistochemistry in seven non-tumor samples and 43 molecularly characterized MB tissues. Its expression profile was correlated with B7-H3 (CD276) mRNA levels, which were previously determined by nCounter, as well as with the patients' clinical features.</p><p><strong>Results: </strong>Only 14.3% (1/7) of non-tumor brain and cerebellum tissues showed B7-H3 positivity, whereas 95.6% (41/43) of the MB samples expressed this protein at distinct levels. B7-H3 was found in the cytoplasm and on the membrane of cancer cells. A significant positive correlation was observed between CD276 mRNA and B7-H3 protein levels. Moreover, high expression of B7-H3 protein was associated with worse overall survival and the presence of metastasis at diagnosis.</p><p><strong>Conclusions: </strong>This is the first study to associate CD276 mRNA and B7-H3 protein levels in MB, revealing a significant positive correlation. We observed that B7-H3 was overexpressed in MB compared to non-tumor brain tissue. High B7-H3 expression was associated with a worse outcome and with the presence of metastasis at diagnosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"49"},"PeriodicalIF":2.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990768","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}