中华病理学杂志最新文献

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[Effects of sampling methods on evaluating post-treatment pathological response in resected non-small cell lung cancer specimens with diameter greater than 3 cm]. [取样方法对直径大于3cm的非小细胞肺癌切除标本治疗后病理反应评价的影响]。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20240816-00526
H F Liu, Y Huang, J H Guo, S L Li, J L Lin, S N Zhao, X F Xie, R Y Wang, J Kong, J J Li, L K Hou, C Y Wu
{"title":"[Effects of sampling methods on evaluating post-treatment pathological response in resected non-small cell lung cancer specimens with diameter greater than 3 cm].","authors":"H F Liu, Y Huang, J H Guo, S L Li, J L Lin, S N Zhao, X F Xie, R Y Wang, J Kong, J J Li, L K Hou, C Y Wu","doi":"10.3760/cma.j.cn112151-20240816-00526","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240816-00526","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the effects of sampling methods on pathological assessment of resected non-small cell lung cancer (NSCLC) specimen with tumor maximum diameter >3 cm after neoadjuvant therapy. <b>Methods:</b> NSCLC patients with a large tumor (diameter >3 cm) that were resected after neoadjuvant therapy from June 2020 to July 2023 were retrospectively collected in the Department of Pathology, Shanghai Pulmonary Hospital, Shanghai, China. Sampling methods of the tumor bed were performed in accordance with the international and Chinese experts recommendations for resection specimens following neoadjuvant therapy (recommended sampling method, RSM), and all remaining tumor bed lesions were completely sampled after recommended sampling (complete sampling method, CSM). The difference of pathological response assessment of residual viable tumor (RVT) between RSM and CSM was examined. <b>Results:</b> A total of 90 cases were identified and analyzed, including 39 cases of squamous cell carcinoma and 51 cases of adenocarcinoma, treated with neoadjuvant therapy including chemotherapy in 22 cases (24.4%), targeted therapy in 14 cases (15.6%), and chemoimmunotherapy in 54 cases (60.0%). There were 62 males and 28 females with an average age of (62.7±17.9) years. The average tumor maximum diameter was 4.3 cm (range, 3.1-8.0 cm). The average number of sampled blocks was 8 blocks (range, 5 to 16) and 15 blocks (range, 8 to 36) per case by RSM and CSM, respectively. According to the definition of major pathological response (MPR) in which RVT is ≤10%, the numbers of patients with MPR were 34 cases by RSM and 30 cases by CSM, respectively. Four cases showed inconsistent RVT between the two methods, including one case of squamous cell carcinoma and three cases of adenocarcinoma. The RVT of the four inconsistent cases was 7%, 7%, 5% and 9% (MPR by RSM), and 15%, 15%, 15% and 20% (non-MPR by CSM), respectively. The kappa values of MPR consistency evaluated by the two sampling methods were 0.893 for all cases, 0.906 for squamous cell carcinoma cases and 0.751 for adenocarcinoma cases. According to MPR cut-off of 65% for invasive primary adenocarcinoma, 24 cases and 20 cases achieved MPR by RSM and CSM, respectively. Of the four inconsistent cases, the RVT by RSM was 60% in three cases and 65% in one case (MPR), whereas the RVT by CSM was 70% in three cases and 75% in one case (non-MPR). The kappa value of the two sampling methods was 0.741. <b>Conclusions:</b> There is high consistency between RSM and CSM in the pathological assessment of post-treatment responses in resected NSCLC specimens with tumor maximum diameter larger than 3 cm. When the percentage of RVT cells is close to MPR, re-evaluation of the specimen is required and CSM may be necessary to accurately evaluate the degree of pathological remission, assist in clinical postoperative treatment, and predict patient prognosis.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"463-469"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051248","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}
引用次数: 0
[Adamantinoma-like Ewing sarcoma of duodenal ameoblastoma with EWSR1::ERG gene fusion: report of a case]. 【EWSR1::ERG基因融合十二指肠变异性母细胞瘤样金刚素瘤Ewing肉瘤1例报告】。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20241114-00758
C R Zhao, K Sun
{"title":"[Adamantinoma-like Ewing sarcoma of duodenal ameoblastoma with EWSR1::ERG gene fusion: report of a case].","authors":"C R Zhao, K Sun","doi":"10.3760/cma.j.cn112151-20241114-00758","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241114-00758","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"542-544"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003852","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}
引用次数: 0
[Pathological assessment and prognosis of SMARCA4-deletion non-small cell lung cancer with neoadjuvant therapy]. 【新辅助治疗下smarca4缺失非小细胞肺癌的病理评估及预后】。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20241105-00733
Y Tian, C Q Liu, Q L Zhang, L X Yan
{"title":"[Pathological assessment and prognosis of SMARCA4-deletion non-small cell lung cancer with neoadjuvant therapy].","authors":"Y Tian, C Q Liu, Q L Zhang, L X Yan","doi":"10.3760/cma.j.cn112151-20241105-00733","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241105-00733","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological features, treatment-effect assessment and prognosis of SMARCA4-deletion non-small cell lung cancer (NSCLC) that was treated with neoadjuvant therapy. <b>Methods:</b> Eleven consecutive cases of SMARCA4-deletion NSCLC treated with neoadjuvant therapy in Guangdong Provincial People's Hospital, Guangzhou, China from January 2007 to October 2024 were collected. Their clinicopathological features, pathological assessment of treatment effect, and prognosis were retrospectively analyzed. <b>Results:</b> All the 11 patients were male. Their median age at diagnosis was 56 (49,64) years. Nine patients were smokers (9/11). Ten patients received neoadjuvant chemoimmunotherapy, and one received neoadjuvant targeted therapy. Eleven biopsy samples showed SMARCA4 complete loss, including 7 cases of invasive non-mucinous adenocarcinoma, 1 case of invasive mucinous adenocarcinoma, 1 case of non-keratinizing squamous cell carcinoma, and 2 cases of NSCLC, not otherwise specified. The histological response to neoadjuvant therapy in resected specimens varied, including tumor necrosis, foam cell aggregation, cholesterol clefts, immune cell infiltrates, reactive granulomas, and stromal fibrosis. Three cases of the primary lesion achieved major pathological response (MPR), and 2 cases achieved complete pathological response (CPR). The MPR rate of neoadjuvant chemoimmunotherapy was 3/10 while its CPR ratio was 2/10. Of the 9 resected specimens that did not achieve CPR, 5 showed a post-treatment histological type different from the pre-treatment one. Eight tumors showed complete SMARCA4 loss, while 1 showed heterogeneous expression. Of the 11 biopsy specimens examined using next generation sequencing, 9 cases showed class 1 SMARCA4 mutations (including 7 nonsense mutations and 2 acquired nonsense mutations), and 2 cases showed wild-type SMARCA4. Taking immunohistochemistry as the gold standard, the sensitivity of next generation sequencing for the detection of SMARCA4-deletion NSCLC was 9/11. After follow-up of 6.9 to 46.6 months, five patients experienced postoperative recurrence, and 6 patients were disease free. The disease-free survival ranged from 0.7 to 27.5 months (median, 7.6 months). <b>Conclusions:</b> The surgical specimens of SMARCA4-deletion NSCLC with neoadjuvant therapy show varying degrees of treatment response. The tumor components sensitive to chemoimmunotherapy and targeted therapy are mostly adenocarcinoma and squamous cell carcinoma, while large cell carcinoma, spindle cell carcinoma and giant cell carcinoma are relatively less sensitive to treatment. Assessment of MPR and CPR suggests that some NSCLC patients with SMARCA4-deletion can benefit from neoadjuvant therapy.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"470-476"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988343","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}
引用次数: 0
[Primary ovarian mesonephric-like adenocarcinoma: a clinicopathological analysis of 17 cases]. 原发性卵巢间肾样腺癌17例临床病理分析
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20241113-00752
J Yuan, T T Chen, X C Chen, Y Ning, X Tao, W Y Gu
{"title":"[Primary ovarian mesonephric-like adenocarcinoma: a clinicopathological analysis of 17 cases].","authors":"J Yuan, T T Chen, X C Chen, Y Ning, X Tao, W Y Gu","doi":"10.3760/cma.j.cn112151-20241113-00752","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241113-00752","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological characteristics, diagnosis, origin, and prognosis of primary ovarian mesonephric-like adenocarcinoma. <b>Methods:</b> A total of 17 cases of primary ovarian mesonephric-like adenocarcinoma diagnosed at the Obstetrics and Gynecology Hospital of Fudan University and Jiaxing Maternal and Child Health Care Hospital between January 2018 and September 2024 were included in this study. Histopathological sections were retrospectively reviewed, and clinicopathological data were systematically analyzed. Immunohistochemical analysis, molecular profiling, and clinical follow-up were performed to further characterize the cases. <b>Results:</b> The patients' age was (57.1±9.3) years. Tumor involvement included 1 bilateral case, 9 left-sided cases, and 7 right-sided cases. Nine cases originated from endometrioid cysts, and 8 cases exhibited coexisting tumor components of other types. Gross examination revealed gray-yellow solid masses or solid components within cysts. Microscopically, the tumors displayed diverse architectural patterns, including papillary, glandular, cystic, tubular, and solid structures, with eosinophilic secretions within glandular lumens and mild to moderate nuclear atypia. Immunohistochemically, the tumors showed variable expression of TTF1, GATA3, CD10, and Calretinin. ER and PR were focally positive in only 2 cases, while others were negative. All cases demonstrated intact DNA mismatch repair proteins expression and wild-type p53 staining patterns. Molecular analysis performed in 10 cases identified pathogenic KRAS mutations in all tested samples. During a follow-up period of 1 to 75 months, 5 cases had recurrence, 1 patient remained alive with disease, and no disease-related death was reported. <b>Conclusions:</b> Ovarian mesonephric-like adenocarcinoma is an aggressive malignancy with a high potential for early recurrence and metastasis. Its frequent association with endometriosis and coexistence with other Müllerian tumors suggest a potential Müllerian origin. The tumor's diverse morphological spectrum and common admixture with other tumor types often pose diagnostic challenges, making it difficult to distinguish from other gynecological malignancies. Therefore, accurate diagnosis of ovarian mesonephric-like adenocarcinoma is crucial for appropriate clinical management and prognostication.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"494-499"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027609","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}
引用次数: 0
[Advances in gynecological pathology in China over the past ten years: retrospect and prospect]. 【近十年来中国妇科病理学进展:回顾与展望】。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20250216-00102
A J Liu
{"title":"[Advances in gynecological pathology in China over the past ten years: retrospect and prospect].","authors":"A J Liu","doi":"10.3760/cma.j.cn112151-20250216-00102","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20250216-00102","url":null,"abstract":"<p><p>In the past decade, great progress has been made in the field of gynecological pathology in China, especially in the field of pathology of female reproductive tract tumors. Gynecological pathologists have not only made a lot of research work in pathological diagnosis and its clinical application, but also issued several expert consensus and guidelines, and edited and translated a number of monographs. All above efforts have made a positive contribution to improving the level of gynecological pathology nationwide.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"435-440"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036899","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}
引用次数: 0
[Clinicopathological characteristics of high-grade succinate dehydrogenase-deficient renal cell carcinoma]. 【高级别琥珀酸脱氢酶缺陷肾细胞癌的临床病理特征】。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20240831-00584
T Tang, Y X Li, Y Liu, W J Yu, Y X Jiang, Y J Li, W Zhang
{"title":"[Clinicopathological characteristics of high-grade succinate dehydrogenase-deficient renal cell carcinoma].","authors":"T Tang, Y X Li, Y Liu, W J Yu, Y X Jiang, Y J Li, W Zhang","doi":"10.3760/cma.j.cn112151-20240831-00584","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240831-00584","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological characteristics and diagnosis of high-grade succinate dehydrogenase-deficient renal cell carcinoma (SDH-RCC). <b>Methods:</b> Three cases of high-grade SDH-RCC diagnosed by immunohistochemical staining and/or molecular testing were collected from Affiliated Hospital of Qingdao University and 971 Hospital of Navy of Chinese People's Liberation Army from January 2015 to December 2023. The clinicopathological characteristics and immunohistochemical features were summarized using light microscopy. Two cases were tested for gene mutations by next-generation sequencing. <b>Results:</b> Of the 3 cases, 2 were male and 1 was female. The ages were 49, 61, and 53 years, respectively. Gross examination revealed that all tumors were single nodules with diameters of 7.0, 4.5, and 5.2 cm, respectively, grayish white in color with irregular borders. Cases 1 and 2 exhibited solid cut sections, whereas case 3 had cystic and solid cut sections. Microscopically, all cases had high WHO/ISUP nuclear grade (3 or 4) and overt invasion. Case 1 exhibited a solid, sheet-like growth pattern with numerous scattered glandular ducts or acinar structures. Case 2 displayed a diffusely growth pattern reminiscent of sarcoma. Case 3 demonstrated intracystic papillary and nodular infiltrative growth patterns. Large clear cytoplasmic vacuoles could be observed in the focal areas of case 1 and case 3. Prominent peritumoral lymphocytes in stroma were noted in case 1. Case 1 was diagnosed with regional lymph node metastasis, and case 2 was diagnosed with renal vein thrombosis. Immunohistochemical staining revealed that SDHB and SDHA were deficiently expressed in 3 cases, while PAX8, FH, and INI-1 exhibited diffuse expression. CD10 (1/3), CA9 (1/3), and CK20 (1/3) were occasionally expressed. The Ki-67 proliferation index ranged from 10% to 50%. Two cases underwent next-generation sequencing and were both found to harbor pathogenic mutations in SDHA (case 2 had a frameshift mutation, and case 3 had a splice site mutation). All 3 cases were followed up for 11 to 112 months. Case 2 died 11 months post-operation, while case 1 and case 3 survived for 19 and 112 months, respectively, without any recurrence or metastasis. <b>Conclusions:</b> High-grade SDH-RCC is a rare subtype of SDH-RCC. The tumor exhibits various architectural patterns and is often misdiagnosed as other types of renal cell carcinoma. The presence of cytoplasmic vacuoles may be indicative for diagnosis. Compared to typical SDH-RCC, the high-grade subtype generally shows a larger tumor size, higher TNM stage, greater invasive potential, and poorer prognosis. For high-grade SDH-RCC, routine SDHB immunohistochemical staining may be necessary. The occurrence of high-grade SDH-RCC may be associated with mutations in SDHA.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"506-511"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039858","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}
引用次数: 0
[Plexiform myofibroblastoma: report of a case]. 丛状肌成纤维细胞瘤1例报告。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20250124-00064
R F Xu, P P Zhu, J Wang
{"title":"[Plexiform myofibroblastoma: report of a case].","authors":"R F Xu, P P Zhu, J Wang","doi":"10.3760/cma.j.cn112151-20250124-00064","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20250124-00064","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"536-538"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989107","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}
引用次数: 0
[Primary kidney GLI1-altered mesenchymal tumor: report of a case]. 原发性肾gli1改变间充质瘤1例报告。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20240921-00623
M W Xu, Z Z Gao, Z S Li, Z Wang, S P Guo
{"title":"[Primary kidney GLI1-altered mesenchymal tumor: report of a case].","authors":"M W Xu, Z Z Gao, Z S Li, Z Wang, S P Guo","doi":"10.3760/cma.j.cn112151-20240921-00623","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240921-00623","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"527-529"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044389","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}
引用次数: 0
[Characterization of PIK3CA/AKT1/PTEN gene mutations in hormone receptor- positive/HER2-negative breast cancer]. [激素受体阳性/ her2阴性乳腺癌中PIK3CA/AKT1/PTEN基因突变的特征]。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20240819-00552
M L Liu, S F Wu, Y Y Liu, K M Li, X Huang, X D Liu, L L Zeng, X Zeng
{"title":"[Characterization of PIK3CA/AKT1/PTEN gene mutations in hormone receptor- positive/HER2-negative breast cancer].","authors":"M L Liu, S F Wu, Y Y Liu, K M Li, X Huang, X D Liu, L L Zeng, X Zeng","doi":"10.3760/cma.j.cn112151-20240819-00552","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240819-00552","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the mutation of PIK3CA, AKT1 and PTEN genes in hormone receptor (HR)-positive and HER2-negative invasive breast cancer. <b>Methods:</b> A total of 44 formalin-fixed paraffin-embedded samples from HR-positive/HER2-negative female patients with breast cancer obtained between January 2020 and July 2024 in Peking Union Medical College Hospital were selected. The mutations of PIK3CA, AKT1 and PTEN genes were analyzed by next-generation sequencing (NGS), and the related clinicopathological characteristics were summarized. <b>Results:</b> In the cohort, 31 out of 44 cases (70.5%) exhibited alterations in the PIK3CA, AKT1 and PTEN genes. Of these, 83.9% (26/31) tumors harbored genetic abnormalities involving one gene, including 21 (47.7%, 21/44) PIK3CA, 2 (4.5%, 2/44) PTEN and 3 (6.8%, 3/44) AKT1 gene mutations. Mutations of both PIK3CA and PTEN genes were found in 16.1% (5/31) of specimens. Among the 26 cases with PIK3CA gene mutations, 13 variants were identified, including E542K, E545K, Q546K, H1047R, H1047L, G1049R, M1043I, C420R, P447_L455del, N345K, N345I, K711N and H1047L/V346G. In addition, 7 mutants of PTEN gene were determined (T319<sup>*</sup>, T321Qfs<sup>*</sup>23, Q245<sup>*</sup>, Q171H, L108P, Y68Ifs<sup>*</sup>6 and V343fs). For AKT1 gene mutation, only E17K was observed.Mutations of PIK3CA/AKT1/PTEN genes are more likely to occur over 40 year-old patients.In this cohort, the PIK3CA V346G mutation (co-existent PIK3CA H1047L) and the PTEN V343fs mutation were not found in previous publications. <b>Conclusion:</b> In addition to the predominance of common loci, PIK3CA and PTEN gene mutations also have rare loci mutations in the breast cancer, warranting further analysis with an expanded sample size.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"500-505"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052864","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}
引用次数: 0
[Clinicopathological features of early-stage lung adenocarcinomas with co-occurrence of MET exon 14 skipping mutation and gene amplification]. 【同时发生MET外显子14跳变和基因扩增的早期肺腺癌的临床病理特征】。
中华病理学杂志 Pub Date : 2025-05-08 DOI: 10.3760/cma.j.cn112151-20240828-00578
Y Y Liu, S F Wu, X D Liu, K M Li, M L Liu, L P Lu, X Zeng
{"title":"[Clinicopathological features of early-stage lung adenocarcinomas with co-occurrence of MET exon 14 skipping mutation and gene amplification].","authors":"Y Y Liu, S F Wu, X D Liu, K M Li, M L Liu, L P Lu, X Zeng","doi":"10.3760/cma.j.cn112151-20240828-00578","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240828-00578","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the abnormalities of mesenchymal-epithelial transition factor (MET) gene in early-stage lung adenocarcinomas and to provide genetic bases for related clinical studies. <b>Methods:</b> A total of 630 cases of formalin-fixed and paraffin-embedded lung adenocarcinoma specimens with ALK and EGFR double-negativities were collected at Peking Union Medical College Hospital, Beijing, China between July 2020 and April 2022. Forty-three stage Ⅰ-ⅢA tumors with MET exon 14 skipping mutation identified by reverse transcription droplet digital PCR (RT-ddPCR) were identified and then evaluated for MET amplification using fluorescence in situ hybridization (FISH). MET amplification was determined using the ratio of MET to chromosome 7 enumeration probe (CEP7) or the mean of MET gene copy number (GCN). <b>Results:</b> Among the 43 samples with MET exon 14 skipping mutation, MET amplification was detected in 9 cases (9/43, 20.93%), including 1 case of MET/CEP7 ≥2 and GCN ≥5 (1/9), 8 cases of GCN≥5 (8/9), as well as 10 cases with high level of CEP7 (7.00-9.72) which included 5 cases with MET amplification. There were no significant differences in clinicopathological features between the two subgroups of tumors which harbored MET exon 14 skipping mutation with MET amplification versus those without (<i>P</i>>0.05). <b>Conclusions:</b> Co-occurrence of MET exon 14 skipping mutation and MET amplification or high level of CEP7 is frequently observed in early-stage lung adenocarcinomas. The most common pattern of MET gene amplification is GCN ≥5.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"477-481"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003853","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}
引用次数: 0
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