中华病理学杂志最新文献

{"title":"[Tuberous sclerosis complex-associated multifocal micronodular pneumocyte hyperplasia: a clinicopathological features and TSC1/TSC2 gene mutation analysis of eight cases].","authors":"P Y Zhang, C Y Wu, W Wu, H K Xie, L K Hou, Y Huang, Z W Dong, S L Li, X F Xie","doi":"10.3760/cma.j.cn112151-20251012-00673","DOIUrl":"10.3760/cma.j.cn112151-20251012-00673","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological features of tuberous sclerosis complex (TSC)-associated multifocal micronodular pneumocyte hyperplasia (MMPH) and the mutation status of TSC1/TSC2 genes. <b>Methods:</b> A retrospective analysis was conducted on 8 MMPH cases diagnosed at Shanghai Pulmonary Hospital Affiliated to Tongji University from September 2020 to August 2024. Clinical information and imaging findings of these cases were collected. Histopathological analysis and next-generation sequencing (NGS) were performed. <b>Results:</b> Among the 8 patients, there were 4 males and 4 females, aged 44 (36, 50) years old. None of them had a definite family history of TSC. Only 1 patient presented with respiratory symptoms at the time of consultation. Four patients had TSC-related cutaneous lesions. Two had shagreen patches, 1 had hypomelanotic macules, and 1 had hypomelanotic macules combined with fibrous plaques on the scalp and angiofibromas. Three patients themselves or their first-degree relatives had a history of epilepsy. Five patients themselves or their first-degree relatives had liver/kidney cysts or a surgical history of renal angiomyolipoma. Computerized tomography scans showed multiple ground-glass nodules in both lungs, with an average diameter of 10.5 (8.5, 11.0) mm. Six cases were diagnosed via surgical resection, and 2 via transbronchial cryobiopsy. Intraoperative frozen sections of the 6 surgically resected cases were all misdiagnosed as early-stage lung adenocarcinoma (including adenocarcinoma in situ, minimally invasive adenocarcinoma, and invasive non-mucinous adenocarcinoma), but the diagnosis was corrected to MMPH postoperatively. One of these 6 cases was concurrent with a benign perivascular epithelioid cell tumor (PEComa). Microscopically, MMPH was characterized by multifocal proliferation of type Ⅱ alveolar epithelial cells, which showed bland cellular morphology without atypia or invasive growth. For the case concurrent with PEComa, clear epithelioid cells were observed growing in nests or sheets. Immunohistochemically, the proliferative epithelial cells were positive for TTF-1 and showed low expression of Ki-67. PEComa cells were positive for Melan A and MiTF. NGS showed that TSC1 mutations were detected in 6 cases, TSC2 mutation in 1 case (which also had a concurrent class Ⅲ missense mutation of BRAF G466E), and no mutation in 1 case, with an overall mutation detection ratio is 7/8. No other lung cancer-related driver-gene variations were found in any case. Follow-up data were available for 8 patients. During the follow-up, 1 patient developed scattered thin-walled lucencies in both lungs, but no pathological examination was performed. All patients had a favorable overall survival status, follow-up time was 14.0(9.5,47.0) months. <b>Conclusions:</b> MMPH is a rare, benign TSC-associated pulmonary lesion, often presenting as multiple ground-glass nodules in both lungs. It can be easily misdiagnosed a","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 6","pages":"555-562"},"PeriodicalIF":0.0,"publicationDate":"2026-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148200358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Driver gene mutations predicted by pathology-foundation-model and their clinical associations in clear cell renal cell carcinoma].","authors":"S Y Tan, Y Y Zhang, W Chen, J N Li, Y R Wei, M Wang, L N Fan, Z Wang","doi":"10.3760/cma.j.cn112151-20251111-00742","DOIUrl":"10.3760/cma.j.cn112151-20251111-00742","url":null,"abstract":"<p><p><b>Objective:</b> To evaluate the performance of a deep learning framework based on the PathOrchestra pathology foundation model for predicting key driver gene mutations (VHL, PBRM1, BAP1, and SETD2) in clear cell renal cell carcinoma (ccRCC), and to analyze the associations of these mutations with clinicopathological characteristics and prognosis using whole-exome sequencing data. <b>Methods:</b> Whole-slide images and matched whole-exome sequencing data were collected from 319 patients with pathologically confirmed ccRCC at the First Affiliated Hospital of Air Force Medical University between March 2018 and July 2023. Image features of the whole slide imaging were extracted using the PathOrchestra foundation model. An attention-based multiple-instance learning model was developed to predict gene mutations. Model performance was evaluated on an independent test set, with the UNI model serving as a baseline control. The associations of the mutation status with clinicopathological parameters and patient prognosis were also analyzed. <b>Results:</b> On the independent test set, the PathOrchestra model achieved area under the receiver operating characteristic curve values of 0.87 for VHL, 0.84 for PBRM1, 0.95 for BAP1, and 0.88 for SETD2, showing higher predictive performances than the UNI baseline for BAP1 and SETD2. Clinicopathological correlation analysis based on whole-exome sequencing data revealed that BAP1 mutation was associated with higher WHO/ISUP grade (<i>χ</i>²=17.694,<i>P</i>=0.001), tumor relapse/metastasis (<i>χ</i>²=4.257,<i>P</i>=0.039), and shorter progression-free survival (<i>P</i>=0.045). <b>Conclusions:</b> The PathOrchestra-based deep learning approach can effectively identify key driver gene mutations in ccRCC using whole slide images of HE-stained slides, providing a feasible method for inferring genetic alterations from pathological images. The association of BAP1 mutation in ccRCC with poor prognosis further supports its value in prognostications. Moreover, the model visualization reveals morphological signatures associated with gene mutations, offering preliminary insights into genotype-morphology relationships.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"440-448"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Interpretation of the 2025 edition ISSVA new classification of vascular anomalies].","authors":"S Li, Q Y Liu","doi":"10.3760/cma.j.cn112151-20251112-00745","DOIUrl":"10.3760/cma.j.cn112151-20251112-00745","url":null,"abstract":"<p><p>In conjunction with the new 2025 ISSVA classification, this article interprets the classification of this group of diseases one by one and elaborates on clinical and pathological issues related to the new classification. It aims to provide a reference for the accurate classification and diagnosis of vascular anomalies diseases from a pathological perspective and further enhance pathologists' in-depth understanding.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"413-418"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Uterine epithelioid leiomyosarcoma with PGR::NR4A3 fusion gene: report of a case].","authors":"X Y Zeng, H D Chen, L Zhong, W S Yang, Q L Yao, Q M Bai, R Bi","doi":"10.3760/cma.j.cn112151-20251227-00855","DOIUrl":"10.3760/cma.j.cn112151-20251227-00855","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"476-479"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Erdheim-Chester disease: a clinicopathological analysis of 16 cases].","authors":"L Zhang, H Z Zhang, Y L Luo, J Huang","doi":"10.3760/cma.j.cn112151-20251026-00707","DOIUrl":"10.3760/cma.j.cn112151-20251026-00707","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To investigate the clinicopathological features, diagnosis, and prognosis of Erdheim-Chester disease. &lt;b&gt;Methods:&lt;/b&gt; The clinical and imaging data of 16 patients with Erdheim-Chester disease diagnosed in the Department of Pathology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China from August 2002 to July 2025 were retrospectively analyzed. A comprehensive evaluation was conducted on histopathology, immunophenotype, molecular characteristics, clinical treatment and follow-up outcomes, supplemented by a review of relevant literature. &lt;b&gt;Results:&lt;/b&gt; There were 16 patients with Erdheim-Chester disease, including 7 males and 9 females. The age at onset ranged from 38 to 70 years, with an average age of 48.0 (43.5, 54.5) years. Two of the 16 cases were complicated by Langerhans cell histiocytosis. Isolated skeletal involvement was observed in 5 cases (most commonly affecting the long bones of the lower extremities), while skeletal involvement with extra-skeletal systemic manifestations (including pulmonary, pituitary, urinary system, pericardial, and aortic involvements) was identified in 11 cases. The characteristic imaging presentation consisted of bilateral symmetric, multifocal diffuse osteosclerosis predominantly involving the diaphyses and metaphyses of long bones. Bone scintigraphy revealed symmetrically increased radiotracer uptake. Magnetic resonance imaging showed hypointense signals on T1-weighted images and heterogeneously hyperintense signals on T2-weighted images, with significant enhancement observed after contrast administration. Histopathological examination revealed osteosclerosis accompanied by infiltration of abundant lipid-laden foamy histiocytes or small mononuclear histiocytes within the intertrabecular spaces. These cells exhibited uniformly eosinophilic, pale pink-stained cytoplasm and round to oval nuclei with inconspicuous nucleoli. The lesion was also characterized by variable numbers of Touton giant cells and varying degree of fibrosis. Immunohistochemical analyses demonstrated the expression of CD68, CD163, and PGM1, but no expression of S-100 or Langerin. BRAF V600E gene mutation was detected in five cases. Clinical management regimens encompassed curettage of intraosseous lesions, potentially combined with adjuvant therapies such as hormonal agents, chemotherapy, interferon-alpha, or BRAF V600E inhibitors. At the end of follow-up (ranging from 2 to 18 years), seven patients died of the disease, six survived with it, and three remained disease-free. &lt;b&gt;Conclusions:&lt;/b&gt; Erdheim-Chester disease is a rare condition characterized predominantly by multifocal and symmetrical involvement of long bones, with the majority of patients presenting with systemic manifestations. Pathological examination combined with imaging studies aids in distinguishing it from inflammatory disorders and other histiocytic proliferative lesions. The overall progn","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"426-433"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Expression of PLK1 in colon cancer and its correlation with clinicopathological features].","authors":"Q Wang, D Luo, S Wang, K X Zhang, L Yang, X D Song, L R Dong","doi":"10.3760/cma.j.cn112151-20260124-00075","DOIUrl":"10.3760/cma.j.cn112151-20260124-00075","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"465-468"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters:report of a case].","authors":"Y M Hu, Y Zhang, Z M Wang, W J Gan","doi":"10.3760/cma.j.cn112151-20250920-00632","DOIUrl":"10.3760/cma.j.cn112151-20250920-00632","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"480-482"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Paget's disease of bone associated with ZNF687 gene mutation: report of a case].","authors":"W T Jiao, R F Wei, Y H Qiu, Z W Li, W Zhang","doi":"10.3760/cma.j.cn112151-20250820-00570","DOIUrl":"10.3760/cma.j.cn112151-20250820-00570","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"473-475"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The interpretation of pathological content in the 2025 ERS/ATS international multidisciplinary classification of interstitial pneumonia].","authors":"H K Xie, C Y Wu","doi":"10.3760/cma.j.cn112151-20250917-00626","DOIUrl":"10.3760/cma.j.cn112151-20250917-00626","url":null,"abstract":"<p><p>In August 2025, an updated International Multidisciplinary Classification of Interstitial Pneumonias was released by the European Respiratory Society (ERS) and American Thoracic Society (ATS). For the first time, the \"idiopathic-only\" paradigm has been transcended through the integration of secondary interstitial lung diseases (ILD) into a unified framework. Grounded in recent advances in ILD research, major changes have been introduced to disease patterns, diagnostic terminology, subcategories, and diagnostic approach. Actual histopathologic findings are more accurately represented by the new schema, and clearer, more actionable guidance for patient management is provided to clinicians. The pathological dimensions of the update are highlighted herein, with key innovations outlined, newly introduced subcategories, terminologies, and categorization systems elucidated, and a systematic overview of the histological characteristics of major patterns offered. Additionally, the opportunities and challenges that the new classification presents to pathologists are discussed.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"405-413"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Pancreatoblastoma with extensive neuroendocrine differentiation in an adult: report of a case].","authors":"C B Zhang, L L Tong, B H Guan, L M Qu","doi":"10.3760/cma.j.cn112151-20250929-00655","DOIUrl":"10.3760/cma.j.cn112151-20250929-00655","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"483-486"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}