中华病理学杂志最新文献

{"title":"[Mesenchymal tumors with GLI1 gene alterations: a clinicopathological analysis of five cases].","authors":"X G Liu, Y Wang, Y K Lyu, Q L Ao, Y Q Duan","doi":"10.3760/cma.j.cn112151-20250818-00559","DOIUrl":"10.3760/cma.j.cn112151-20250818-00559","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological and genetic characteristics of mesenchymal tumors with GLI1 gene alterations. <b>Methods:</b> Five cases diagnosed at the Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China from 2021 to 2025 were collected. HE and immunohistochemical slides were reviewed. Tumor-associated genetic alterations were detected using a next generation sequencing (NGS) panel of pan-solid tumor genes (468 genes, 116 DNA+352 RNA). Fluorescence in situ hybridization (FISH) was performed to detect GLI1 gene translocation and amplification. Clinical and follow-up data were analyzed. <b>Results:</b> There were 3 females and 2 males, aged 48, 16, 47, 47 and 37 years, respectively. The tumor locations were the tongue, small intestine, ovary, and buttock. Histologically, tumor cells arranged in nest and lobular arrangements; within a partially myxoid stroma with necrosis and calcification, surrounded by a rich fibrovascular network around and a pseudocapsule in some cases. The tumor cells were predominantly round to oval, with fewer short spindled forms, showing mild to moderate atypia and distinct nucleoli. Immunohistochemically, tumor cells variably expressed CD56, S-100, and smooth muscle actin, but were negative for broad-spectrum epithelial markers. GLI1 immunohistochemistry showed diffuse, strong positivity (2 cases stained). Ki-67 proliferation index ranged from 1% to 30%. NGS identified PTCH1::GLI1 fusions in three cases and GLI1 amplification in two. All patients underwent complete surgical resection without adjuvant therapy. During the follow-up (4-16 months), one case recurred, while four remained disease-free. <b>Conclusions:</b> Mesenchymal neoplasm with GLI1 gene alterations is a type of tumor with low malignant potential, representing the biological behavior of low-grade sarcoma. However, it is currently not recognized by the World Health Organization classification. Surgical resection is the preferred treatment. While immunophenotyping lacks specificity, and GLI1 immunohistochemistry could aid in its diagnosis. Definitive diagnosis and differential diagnosis of this tumor require characteristic morphological features combined with molecular confirmation of GLI1 gene fusion or amplification.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"434-439"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857212","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":"[Primary sarcoma with BCOR genetic alterations of the head and neck: a clinicopathological analysis of three cases].","authors":"Y P Ji, J H Zhang, Y Zhou, Y F Wang, S Y Wang, L Lin, J Wang, C W Zhai","doi":"10.3760/cma.j.cn112151-20260113-00031","DOIUrl":"10.3760/cma.j.cn112151-20260113-00031","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"469-472"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857379","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":"[Detection of DDIT3 gene rearrangement in myxoid liposarcoma using fluorescence in situ hybridization: its clinical application and cryptic signals].","authors":"M Chen, W Y Jing, X He, H Peng, R Peng, Y Lu, H Y Zhang","doi":"10.3760/cma.j.cn112151-20250805-00535","DOIUrl":"10.3760/cma.j.cn112151-20250805-00535","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical application of DDIT3 gene rearrangement using fluorescence in situ hybridization (FISH) in myxoid liposarcoma (MLPS) and to analyze the cases with atypical signal pattern. <b>Methods:</b> A total of 386 cases were examined for DDIT3 gene rearrangement using FISH in the West China Hospital, Sichuan University, Chengdu, China from January 2018 to December 2024. The clinicopathologic data and molecular detection results were collected. Six MLPS with DDIT3 cryptic rearrangement (CR-MLPS) were identified and subject to FISH testing of FUS and EWSR1 break, EWSR1::DDIT3 and FUS::DDIT3 fusion, next-generation sequencing (NGS), reverse-transcriptase polymerase chain reaction and Sanger sequencing. <b>Results:</b> Among the 386 successfully tested cases, 154 cases were histologically diagnosed as MLPS, of which 148 (148/156, 96.1%) were positive for DDIT3 gene rearrangements. In the positive cases, 57 cases were further subject to FUS and EWSR1 break-apart examination. Among them, 51 cases (51/57, 89.5%) showed FUS rearrangements, 5 cases (5/57, 8.8%) displayed EWSR1 rearrangements and 1 case was negative for FUS and EWSR1 rearrangement. DDIT3 gene rearrangements were negative in 238 cases (238/386, 59%). Six CR-MLPS were identified, including two females and four males, with an average age of 32 (14, 55) years, all located in the deep soft tissues of the extremities. All six cases of CR-MLPS presented typical MLPS morphology, with nodular distribution, abundant mucin, and visible branched capillaries. The cells were round and of medium size. Adipoblasts and cells with adipocyte-differentiation were also observed. The tumor cells in all six cases of CR-MLPS were negative or focally positive for S-100, and negative for p63 (4/4) and CDK4 (3/3). The Ki-67 index was 10% to 15%. Three of the six DDIT3 CR-MLPS showed small gap of DDIT3 break, one case revealed centromeric amplifications of DDIT3 gene, and two cases displayed 1 to 3 yellow/fusion signals. Subsequent FISH fusion test, reverse-transcriptase polymerase chain reaction and NGS confirmed that four cases had EWSR1::DDIT3 variants and two cases had FUS::DDIT3 variants. All six patients underwent surgical resection followed by radiotherapy. Among them, one patient had a recurrence 4 years after surgery, and another had recurrence and metastasis. <b>Conclusions:</b> FISH detection of DDIT3 gene rearrangements is important for the diagnosis of MLPS, whereas a small number of cases may still be missed due to cryptic rearrangement. The CR-MLPS cases present typical morphology, among which the EWSR1::DDIT3 variants are more commonly detected than the others.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"419-425"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857258","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":"[Research progress of splenic diffuse red pulp small B-cell lymphoma].","authors":"W J Zhang, J K Xu, C F Wang","doi":"10.3760/cma.j.cn112151-20250906-00598","DOIUrl":"10.3760/cma.j.cn112151-20250906-00598","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"495-499"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857396","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 and molecular features of meningioma: an analysis of 134 cases based on high-throughput sequencing].","authors":"M Gao, L M Wang, Y L Xiong, L H Zhao, Z L Hu, X W Zhang, L H Teng","doi":"10.3760/cma.j.cn112151-20250803-00530","DOIUrl":"10.3760/cma.j.cn112151-20250803-00530","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological and molecular features of meningioma, and to analyze the characteristic molecular changes in high-grade meningioma (WHO grades 2-3). <b>Methods:</b> A total of 139 meningioma specimens from 134 patients treated at Xuanwu Hospital, Capital Medical University from 2015 to 2020 were collected, including 49, 62 and 28 samples of WHO grades 1, 2 and 3 meningiomas, respectively. Clinical data and pathological diagnoses were reviewed. Next-generation sequencing (NGS) was conducted to analyze the associations of molecular biomarkers with clinicopathological features and prognosis. <b>Results:</b> Among the 134 patients, 59 patients (44.0%) were male, and 75 (56.0%) were female, age 57 (49, 66) years old. The most common genetic alteration was NF2 mutation (43.2%, 60/139). In non-NF2 mutated meningiomas, the hotspot genes of detectable mutations were AKT1 (13.7%, 19/139), TRAF7 (9.4%, 13/139), KLF4 (5.7%, 8/139), SMO (5.7%, 8/139), and PIK3CA (1.4%, 2/139). Twelve of the 13 cases TRAF7 alterations co-occurred with other genetic changes. Some molecular alterations were associated with histological subtypes. For instance, NF2 mutations were most frequently detected in psammomatous meningiomas (2/2) and fibrous meningiomas (8/9), while all secretory meningiomas harbored KLF4 mutations (6/6). Some molecular alterations were associated with tumor grade and prognosis. JAK3 mutations (4.3%, 6/139), TERT promoter mutations (3.6%, 5/139), and homozygous deletion of CDKN2A/B (4.3%, 6/139) were exclusively found in high-grade meningiomas. TERT promoter mutations and CDKN2A/B homozygous deletion (versus normal) were both independently associated with poorer prognosis (<i>P</i><0.001 for both). JAK3 mutation was also associated with shorter overall survivals (<i>P</i>=0.031). <b>Conclusions:</b> NF2 is the most frequently mutated gene in meningiomas. TERT promoter mutations and CDKN2A/B homozygous deletion occur exclusively in high-grade meningiomas, link to unfavorable prognosis, and can serve as independent diagnostic markers for WHO grade 3 meningioma. JAK3 mutation seems also to be associated with high-grade meningiomas and shorter survivals.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"449-455"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857130","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":"[Sarcoma with BCOR genetic alterations: a clinicopathological analysis of four cases].","authors":"R N Wu, X K Wu, X Liu, H M Yi","doi":"10.3760/cma.j.cn112151-20251113-00751","DOIUrl":"10.3760/cma.j.cn112151-20251113-00751","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"462-465"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857333","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":"[Update on the molecular classfication of rhabdomyosarcoma].","authors":"P P Zhu, M Zhao, J Wang","doi":"10.3760/cma.j.cn112151-20251107-00737","DOIUrl":"10.3760/cma.j.cn112151-20251107-00737","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"487-494"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857369","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 characteristics of lung adenocarcinoma with PIK3CA mutation].","authors":"H R Chen, Z Y Huang, Z R Ren, C Lu, Y Z Ding, Q Q Yu, L F Lu, S D Cang, Q Y Liu","doi":"10.3760/cma.j.cn112151-20250911-00609","DOIUrl":"10.3760/cma.j.cn112151-20250911-00609","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the mutation status of the PIK3CA gene and the clinicopathological characteristics in lung adenocarcinoma. <b>Methods:</b> Lung adenocarcinoma cases that underwent next-generation sequencing (NGS) for the PIK3CA gene at the Department of Pathology, the Third People's Hospital of Henan Province and the Henan Provincial People's Hospital from January 1, 2020 to December 31, 2024 were collected. Clinicopathological indicators were recorded for statistical analysis, and follow-up was conducted. <b>Results:</b> A total of 127 lung adenocarcinoma patients with PIK3CA mutations were detected. There was a slight female predominance (75/127, 59.1%), the majority were non-smokers (95/127, 74.8%), and age was 65.0(57.0, 71.0)years old. Most lung adenocarcinomas were moderately differentiated (56/127, 44.1%) or poorly differentiated (44/127, 34.6%), with clinical stage Ⅳ being the most common (60/127, 47.2%). Hotspot mutations in the PIK3CA gene were present in 77 cases (77/127, 60.6%), specifically manifesting as mutations in exon 9 (E9, p.E545K/Q, p.E542K) and exon 20 (E20, p.H1047R/L/Y). Compared with E9 mutations, E20 mutations were more frequently associated with lymph node metastasis, visceral pleural invasion, airspace dissemination, poorer differentiation, and higher staging, and had a worse prognosis. Multivariate Cox analysis showed that PIK3CA hotspot mutations did not significantly affect prognosis (<i>HR</i>=0.586,95%<i>CI</i>=0.343-1.002,<i>P</i>=0.051). Co-existing mutations in other genes were found in 105 cases (105/127, 82.7%), with 72 cases (72/105, 56.7%) harboring concomitant EGFR mutations. Of the 62 cases receiving targeted therapy, 11 developed drug resistance, primarily due to secondary EGFR exon 20 mutations (9/11). <b>Conclusions:</b> Lung adenocarcinomas with PIK3CA mutations exhibit distinct clinicopathological characteristics in terms of gender, age, smoking history, differentiation degree, and clinical stage. Acquired drug resistance in lung adenocarcinoma may be accompanied by PIK3CA mutations, but PIK3CA mutation is not the main mechanism of targeted therapy resistance in lung adenocarcinoma patients.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 5","pages":"456-461"},"PeriodicalIF":0.0,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857125","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 levels of CSPG4 and SFRP1 in esophageal basaloid squamous cell carcinoma and their value in differential diagnosis].","authors":"Y H Xiao, D X Jiang, Z X Yu, W Yuan, J Huang, Q Song, X L Zhang, J A K S Su, C Xu, Y Y Hou","doi":"10.3760/cma.j.cn112151-20250723-00498","DOIUrl":"10.3760/cma.j.cn112151-20250723-00498","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the diagnostic and prognostic value of CSPG4 and SFRP1 expression in esophageal basaloid squamous cell carcinoma (EBSCC). <b>Methods:</b> EBSCC cases in pathological diagnostic reports from Zhongshan Hospital, Fudan University from 2001 to 2023 were collected. Three senior pathologists independently reviewed the slides, and 81 cases of EBSCC and 55 conventional esophageal squamous cell carcinomas (ESCC) with consistent diagnoses were collected. Immunohistochemical staining for CSPG4 and SFRP1 was performed. The sensitivity and specificity of CSPG4 and SFRP1 expression in diagnosing EBSCC, as well as their correlation with prognosis, were analyzed. <b>Results:</b> Among the 81 EBSCC and 55 conventional ESCC cases, there were no significant differences in patient gender, age, or surgical resection time (<i>P</i>>0.05). The expression levels of CSPG4 and SFRP1 were significantly higher in EBSCC than in conventional ESCC (<i>P</i><0.001), with no significant differences across different invasive layers (<i>P</i>>0.05). The receiver operating characteristic (ROC) curve for CSPG4 had an area under the curve (AUC) value of 0.952, with an optimal H-score cutoff of 75, showing a sensitivity of 92.6% and a specificity of 89.1% for diagnosing EBSCC. For SFRP1, the ROC curve had an AUC value of 0.880, with an optimal H-score cutoff of 1.5, showing a sensitivity of 81.5% and a specificity of 94.5%. When combined, CSPG4 and SFRP1 achieved a sensitivity of 80.2% and a specificity of 100% for diagnosing EBSCC. Among the 79 EBSCC cases with follow-up data, 17.7% showed high expression of both CSPG4 and SFRP1, 17.7% showed high CSPG4 but low SFRP1 expression, 13.9% showed low CSPG4 but high SFRP1 expression, and 50.6% showed low expression of both molecules. Compared to patients with low expression of both CSPG4 and SFRP1, those with high CSPG4 and low SFRP1 expression had the worst prognosis (disease-free survival: <i>P</i>=0.190; overall survival: <i>P</i>=0.031), particularly in stage Ⅰ-Ⅱ patients (disease-free survival: <i>P</i>=0.031; overall survival: <i>P</i>=0.013). <b>Conclusions:</b> CSPG4 and SFRP1 are primarily expressed in EBSCC. The combined application of immunohistochemical staining for these two markers can serve as a molecular indicator for the differential diagnosis and prognostic prediction of EBSCC.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"353-360"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646815","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 characteristics and molecular genetic features of malignant epithelioid neoplasm with EWSR1/FUS-CREB fusions in thorax of two cases].","authors":"Y Y Zhang, P Liao, Q Zheng, J H Wu, Y Li, X Nie","doi":"10.3760/cma.j.cn112151-20250716-00477","DOIUrl":"10.3760/cma.j.cn112151-20250716-00477","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 4","pages":"361-364"},"PeriodicalIF":0.0,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147646824","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}