中华病理学杂志最新文献

{"title":"[Glioblastoma with loss of H3K27me3 and EGFR exon 20 insertion: report of a case].","authors":"T R Hu, F Li, Y Lan, J Ge, F Liu, A L Li, L H Wang, J Wang, S Wei, D M Chai, X W Bian, T Luo","doi":"10.3760/cma.j.cn112151-20250725-00507","DOIUrl":"10.3760/cma.j.cn112151-20250725-00507","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"386-389"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646788","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":"[Fibrodysplasia ossificans progressive: a clinicopathological and molecular genetic analysis of three cases].","authors":"Z Q Meng, Z H Zhao, E J Liu, M L Yang, X Zhu, S L Li, W C Li","doi":"10.3760/cma.j.cn112151-20250717-00484","DOIUrl":"10.3760/cma.j.cn112151-20250717-00484","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological and molecular genetic characteristics of fibrodysplasia ossificans progressiva (FOP). <b>Methods:</b> Three cases of FOP were collected in the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2024. The clinicopathological characteristics were reviewed. Immunohistochemistry and DNA-based NGS were performed. <b>Results:</b> The cohort included two males and one female, with ages of 1, 11, and 11 years, respectively. All patients presented with multiple soft tissue masses in the trunk and hallux valgus deformity. Due to clinical suspicion of malignancy, biopsies were performed in all three cases, and one patient subsequently underwent excision. Histologically, biopsy specimens revealed spindle cell proliferation within a myxoid and collagenous background, infiltrating skeletal muscle fibers, accompanied by thin-walled blood vessels and minimal inflammatory infiltrates. Multifocal ossification was observed in the excised specimen. Immunohistochemically, the spindle cells were positive for SMA (3/3), and negative for desmin (3/3), S-100 (3/3), CD34 (3/3), and MUC4 (1/1). AB-PAS staining revealed extensive mucin deposition in the stroma (2/2). Next-generation sequencing (NGS) identified the ACVR1 R206H mutation in all three cases. <b>Conclusions:</b> Early-stage FOP exhibits distinct histological features, with congenital hallux deformity serving as a crucial diagnostic clue. Molecular testing for ACVR1 mutations facilitates early disease diagnosis.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"340-345"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646805","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":"[Renal metastasis from a thyroblastic tumor: report of a case].","authors":"R H Wang, D X Shi, B B Lyu, X Y Lin","doi":"10.3760/cma.j.cn112151-20251124-00771","DOIUrl":"10.3760/cma.j.cn112151-20251124-00771","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"380-382"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646936","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":"[Clinicopathological features of collision tumors of clear cell renal cell carcinoma complicated with metastatic carcinomas of three cases].","authors":"Z M Zhang, L Yang, H D Yu, L N Fan, Z Song","doi":"10.3760/cma.j.cn112151-20260106-00017","DOIUrl":"10.3760/cma.j.cn112151-20260106-00017","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"364-367"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646844","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":"[Medullary carcinoma of the colon: a clinicopathological and molecular features of two cases].","authors":"C Y Tong, L Y Huang, H Y Yao, H G Jiang, J H Guo, X Y He, C Y Chen","doi":"10.3760/cma.j.cn112151-20251202-00800","DOIUrl":"10.3760/cma.j.cn112151-20251202-00800","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"368-370"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646786","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":"[PTCH1 promotes epithelial mesenchymal transition and epithelial cell proliferation in the pathogenesis of chronic sinusitis with nasal polyps].","authors":"M K Xu, L L Rong, Y K Wang, Q Li, Y J Wang, H Y Zhao, L Zhang, X L Liang, J Lu","doi":"10.3760/cma.j.cn112151-20250905-00594","DOIUrl":"10.3760/cma.j.cn112151-20250905-00594","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the role of PTCH1 in epithelial-mesenchymal transition (EMT) and the development of chronic sinusitis with nasal polyps (CRSwNP). <b>Methods:</b> A total of 240 nasal polyps from CRSwNP patients were collected as experimental group, while nasal mucosa tissues from 30 patients with deviated nasal septum were collected as control group. They were all diagnosed at Beijing Chaoyang Hospital, Beijing, China from 2015 to 2023. Fifty-two CRSwNP samples were subjected to targeted next-generation sequencing. The effect of PTCH1 on the proliferation of nasal mucosal epithelial cells was detected using cell culture and the CCK8 assay. The expression of PTCH1, EMT markers (including E-cadherin, vimentin, and SMA) and the EMT-related transcription factor Snail/Slug were assessed using immunohistochemical staining. <b>Results:</b> Among the 240 cases of CRSwNP, 179 were male and 61 were female, with an average age of 49 (18, 72) years. Among the 30 cases of deviated nasal septum, 19 were male and 11 were female, age 42 (19, 75) years old. Targeted next-generation sequencing revealed that the mutation rate of PTCH1 in CRSwNP was 7.7% (4/52),which was significantly higher than the mutation frequency of less than 1% in the database of normal individuals. Cell culture and CCK8 assay showed that PTCH1 mutation could promote the proliferation of nasal mucosal epithelial cells. Immunohistochemical staining showed that 116 cases(116/240) CRSwNP were moderately to strongly positive for PTCH1, 114 cases (114/240) were weakly positive, and 10 cases (10/240) were negative. Two hundred and one of the 240 cases were weakly positive for E-cadherin, 4 cases (4/240) were moderately positive and 35 cases (35/240) were negative. Vimentin, SMA, Snail and Slug all showed various degrees of positive expression. Meanwhile, expression of PTCH1 was elevated in CRSwNP and correlated with the expression of Snail/Slug (<i>r</i>=0.776, <i>P</i><0.01; <i>r</i>=0.767, <i>P</i><0.01, respectively). <b>Conclusions:</b> PTCH1 mutation is an important genetic variant in CRSwNP. PTCH1 mutation activates the Hedgehog signaling pathway and promotes the EMT process by upregulating the expression of the transcription factor Snail/Slug, while PTCH1 mutation also directly promotes the proliferation of nasal mucosal epithelial cell. Both processes/pathways are involved in the development of CRSwNP and have the potential to become the targets for the future clinical therapy of CRSwNP.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"333-339"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646962","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":"[Pulmonary epithelioid inflammatory myofibroblastic sarcoma with EML4::ALK gene fusion: report of a case].","authors":"H X Bian, F Hou, Y Wang, M Li","doi":"10.3760/cma.j.cn112151-20250813-00553","DOIUrl":"10.3760/cma.j.cn112151-20250813-00553","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"393-395"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646933","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":"[Idiopathic scrotal calcinosis: report of three cases].","authors":"S X Bai, J B Wang, T T Song, S Q Wang, X D Xi, W J Sun","doi":"10.3760/cma.j.cn112151-20250725-00508","DOIUrl":"10.3760/cma.j.cn112151-20250725-00508","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"383-385"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646871","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":"[Clinical application of PI3K/AKT/mTOR pathway testing in breast cancer].","authors":"M L Sun, Y Q Chen, S Y Cao, M J Shen, L J Yin, X R Zhong, T Luo, C X Ding, F Ye, H Bu","doi":"10.3760/cma.j.cn112151-20250704-00446","DOIUrl":"10.3760/cma.j.cn112151-20250704-00446","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 3","pages":"294-299"},"PeriodicalIF":0.0,"publicationDate":"2026-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378899","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":"[Myoepithelial tumor of soft tissue with EWSR1::KLF17 fusion: report of a case].","authors":"M Hu, N Fang","doi":"10.3760/cma.j.cn112151-20250603-00382","DOIUrl":"10.3760/cma.j.cn112151-20250603-00382","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 3","pages":"287-290"},"PeriodicalIF":0.0,"publicationDate":"2026-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147378915","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}