中华病理学杂志最新文献

{"title":"[Clinicopathological significance of DICER1 mutation in follicular thyroid carcinoma].","authors":"X Q Li, Y L Wang, Z Zhang, J S Zhao, W M Kong, X Z Pan, L R Bao, K Z Yang, H Y Gu, J G Wang","doi":"10.3760/cma.j.cn112151-20240819-00555","DOIUrl":"10.3760/cma.j.cn112151-20240819-00555","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical and pathological significance of the DICER1 mutation in follicular thyroid carcinoma (FTC). <b>Methods:</b> Sixty-eight cases of primary FTC resected between 2009 and 2023 were retrieved from The Affiliated Hospital of Qingdao University, Qingdao, China. Sanger sequencing was performed to identify DICER1 and TERT promoter mutations in all cases. Cases with DICER1 or TERT promoter mutations were subject to additional examination of potential mutations in KRAS, HRAS, and NRAS. The clinical and pathological features of DICER1-mutant FTCs were then analyzed. The relationship between DICER1 mutations and TERT-promoter/RAS mutations was also assessed. <b>Results:</b> DICER1 mutations were detected in 16 of the 68 FTC cases (23.5%), with 11 near E1813 at exon 25, 6 near D1709 at exon 24, and 1 in the splice region of exon 25. Two cases harbored two (distinct) mutations. All patients with DICER1-mutant FTC were female. Compared with patients with DICER1-wild-type FTC, those with DICER1-mutant were much younger, and had a higher proportion of minimally invasive subtype. Nine FTCs with DICER1 mutations were subject to further sequencing on adjacent non-cancerous tissues or lymph node tissues, but no mutations were detected. TERT-promoter or RAS hotspot mutations were not identified in any of the DICER1-mutant cases. However, TERT-promoter mutation was found in 6 DICER1-wild-type cases (8.8%, 6/68), with 3 cases also having RAS hotspot mutations and exhibiting highly aggressive biological behaviors. <b>Conclusion:</b> DICER1 mutations may occur in FTCs and appear mutually exclusive with RAS and TERT-promoter mutations, warranting further study as RAS-like mutations.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"250-258"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543811","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 hereditary breast cancer and advances in germline testing].","authors":"A Q Li, X Shen, X C Fei, M Ruan, L Dong, C F Wang","doi":"10.3760/cma.j.cn112151-20240816-00525","DOIUrl":"10.3760/cma.j.cn112151-20240816-00525","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"294-297"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543805","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":"[Characteristic PIK3CA gene mutation in breast cancer].","authors":"J N Zhao, H R Zhang, Y P Liu","doi":"10.3760/cma.j.cn112151-20240817-00543","DOIUrl":"10.3760/cma.j.cn112151-20240817-00543","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the mutation spectrum of the PIK3CA gene in breast cancer, providing a new basis for the precise treatment of breast cancer with PIK3CA inhibitors. <b>Methods:</b> A retrospective analysis was conducted on 144 breast cancer patients who underwent biopsy before neoadjuvant therapy archived from 2015 to 2020 at the Fourth Hospital of Hebei Medical University. Next-generation sequencing (NGS) was utilized to detect the mutations of 520 genes closely related to the development of solid tumors and targeted therapies. The study compared the differences between reported mutation types and focused on analyzing the mutation status of the PIK3CA gene. The clinical and pathological characteristics, including age of onset, molecular subtypes, and Ki-67, were also analyzed. The correlation between PIK3CA mutations and clinicopathological characteristics was examined using Pearson×s chi-square test and Mann Whitney test. Logistic regression was employed to analyze factors influencing PIK3CA mutations. Kaplan-Meier survival analysis and Cox regression models were constructed using R programming. <b>Results:</b> Among the 144 breast cancer samples, 61 (42.3%, 61/144) exhibited PIK3CA gene mutations, of which 23 cases (53.5%, 23/43) were HER2-positive breast cancer, 28 cases (44.4%, 28/63) were luminal breast cancer, and 10 cases (27.8%, 10/36) were triple-negative breast cancer. Of the detected mutations, three hotspot mutations (H1047R, E545K, and E542K) accounted for 72.1% of the total PIK3CA mutations, with H1047R (52.4%), E545K (16.4%), and E542K (3.3%) most commonly detected. The remaining rare mutations accounted for 26.3%. Co-mutations involving PIK3CA and other genes were also observed in the cohort, occurring with TOP2A and FOXA1, while being mutually exclusive with GATA3 and BRCA2. PIK3CA mutations were significantly associated with HER2 status and were not significantly correlated with the patient's age, menopausal status, HR status, Ki-67 index, molecular typing, TNM stage or pCR status. Likewise, no significant correlation was found between different PIK3CA mutation status and overall survival. <b>Conclusions:</b> This cohort study shows the overall mutation rate of PIK3CA in breast cancer and the mutation frequencies across different molecular subtypes. The findings reveal a significant correlation between PIK3CA mutations and HER2 status, which provides a new basis for the precise treatment of breast cancer with PIK3CA inhibitors.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"243-249"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543789","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":"[Low-grade adenosquamous carcinoma of the breast arising from benign sclerosing lesions: a clinicopathological analysis].","authors":"R An, H X Li, H Y Zhu, H Y Ding","doi":"10.3760/cma.j.cn112151-20241127-00791","DOIUrl":"10.3760/cma.j.cn112151-20241127-00791","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological features, immunohistochemical characteristics, and differential diagnosis of low-grade adenosquamous carcinoma of the breast arising from benign sclerosing lesions. <b>Methods:</b> Twelve cases of low-grade adenosquamous carcinoma arising from benign sclerosing lesions of the breast were collected, which were diagnosed from January 2010 to December 2023 at the Seventh Medical Center of the Chinese People's Liberation Army General Hospital. Their clinical manifestations, histopathological morphology, and immunohistochemical characteristics were analyzed and related literatures were reviewed. <b>Results:</b> All the 12 patients were females with a median age of 42 years (21-60 years). Five of the 12 cases had coexisting complex sclerosing lesions, 5 with sclerosing adenosis, 1 with sclerosing intraductal papilloma, and 1 with ductal adenoma. Microscopically, low-grade adenosquamous carcinoma grew infiltratively in multinodular and sclerosing lesions. The carcinomatous component was characterized by small irregular glandular structures, tubular formations, solid nests, clusters, or a single tumor cell. The epithelium showed varying degrees of squamous differentiation. The carcinoma was surrounded by fibroadenomatoid and desmoplastic lesions. The invasive neoplastic component typically infiltrated normal breast structures, and might infiltrate nerves and adipose tissue. There were lymphocytic aggregates commonly seen at the periphery. By immunohistochemistry, the tumor cells of all 12 cases showed diffuse and strong immunopositivity for CK5/6; negative expression of ER, PR and HER2; and variable expression of myoepithelial markers such as SMA, calponin, SMMHC and others. There was varied staining pattern of tumor cells for p63. CK8/18 (or CK7) was variably positive or negative. The proliferative index measured by Ki-67 was low. <b>Conclusions:</b> Low-grade adenosquamous carcinoma of the breast is a rare variant, which is found to coexist with other benign sclerosing lesions and can be easily missed and/or misdiagnosed. Their invasive growth pattern, presence of sweat duct-like structures and immunophenotypic profile are key features for appropriate diagnosis.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"230-236"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542875","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":"[Advances in head and neck pathology in China over the past ten years: retrospect and prospect].","authors":"H G Liu, H W Gao","doi":"10.3760/cma.j.cn112151-20241017-00687","DOIUrl":"10.3760/cma.j.cn112151-20241017-00687","url":null,"abstract":"<p><p>Chinese head and neck pathology has been comprehensively improved in the past ten year. This paper focuses on the observation and research of sinonasal epithelial tumors, non-epithelial tumors, inflammatory diseases, NK/T cell lymphoma, nasopharyngeal carcinoma, oropharyngeal HPV-associated squamous cell carcinoma, laryngeal squamous cell carcinoma, ear neuroendocrine tumor, adenoid cystic carcinoma, endolymphatic sac tumor, and hyperplastic disease of Waldeyer's ring lymphoid tissue, etc. The difficult cases were reviewed. Hope to represent the whole picture of the progress of the subject. In the future, we will further strengthen the construction of discipline echelons, deepen the comprehensive and in-depth discussion and research of diseases, and make breakthroughs in the original understanding of diseases.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"224-229"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543781","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":"[Advances in constitutional mismatch repair deficiency syndrome associated tumors].","authors":"R F Wang, W B Guan, H R Han, S Q Zheng, M H Yan, L F Wang","doi":"10.3760/cma.j.cn112151-20240816-00530","DOIUrl":"10.3760/cma.j.cn112151-20240816-00530","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"310-315"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543780","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":"[Endocardial myocardial biopsy and ultrastructural characteristics in heart failure patients with reduced ejection fraction].","authors":"J Q Wang, D Chen, M H Zheng, W Fang, J F Shang, H T Zhou, G L Lian, S S Mei","doi":"10.3760/cma.j.cn112151-20240716-00461","DOIUrl":"10.3760/cma.j.cn112151-20240716-00461","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the endocardial myocardial biopsy and ultrastructural features of heart failure patients with reduced ejection fraction, to determine their histopathologic phenotype, and to explore the diagnostic utility of endomyocardial biopsy in such patients. <b>Methods:</b> A total of 35 patients with heart failure with reduced ejection fraction diagnosed at Beijing Anzhen Hospital and underwent endomyocardial biopsy were collected between January 2022 and December 2023. The clinical features, histopathological, and ultrastructural characteristics were analyzed and compared with 11 patients with heart failure with preserved ejection fraction. <b>Results:</b> The age ranged from 35-58 years, with median age of 51 years; there were 26 males and 9 females. Myocardial fibrosis and myocardial fiber disorders were the most common histopathologic changes [97.1% (34/35) and 74.3% (26/35), respectively]. Myocardial fibrosis was not statistically different between the heart failure with reduced ejection fraction group and the heart failure with preserved ejection fraction group [13.3% (5.7%-21.4%) vs. 13.2% (9.3%-34.2%), <i>P=</i>0.279]. Significant ultrastructural changes were dense mitochondrial proliferation, vacuolar degeneration, and disorganized arrangement of myocardial fibers with localized lysis and fracture. After endomyocardial biopsy, the etiology was identified in 11 patients (31.4%,11/35), with a prevalence of cardiac amyloidosis of 17.1% (6/35). <b>Conclusions:</b> Endomyocardial biopsy is useful for early diagnosis and precise treatment in patients presenting with heart failure with reduced ejection fraction. Histopathological and ultrastructural analyses can uncover potential treatments, and predict and improve prognosis by providing relevant information for understanding the pathogenesis and clinical evolution.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"259-265"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543820","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":"[Advances in breast cancer tumor-infiltrating lymphocytes evaluation and deep learning applications].","authors":"X Cai, P Sun","doi":"10.3760/cma.j.cn112151-20241226-00875","DOIUrl":"10.3760/cma.j.cn112151-20241226-00875","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"298-304"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543767","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":"[Association of tumor cells at the cardiac myxoma stalk invading into the elastic fiber layer between heart walls with tumor recurrence: a preliminary study].","authors":"J Q Xue, D Chen, J F Shang, S S Mei, Z Zhang","doi":"10.3760/cma.j.cn112151-20240717-00462","DOIUrl":"10.3760/cma.j.cn112151-20240717-00462","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the pathological features of recurrent cardiac myxoma to provide a reference basis for clinical treatment and postoperative follow-up. <b>Methods:</b> The pathological data of cardiac myxoma patients who underwent cardiac myxoma surgery in Beijing Anzhen Hospital, Beijing, China from 2002 to 2016 were retrospectively analyzed. According to the grouping criteria, the cases were divided into the recurrence group (<i>n</i>=6) and control group (<i>n</i>=73). <b>Results:</b> In the recurrence group, there were 3 females and 3 males with a median age of 47 years. In the control group, there were 49 females and 24 males, with a median age of 53 years. Cardiac myxoma usually occurred in the left atrium. In the recurrence group, 5 cases occurred in the left atrium and 1 case in the right atrium. In the control group, 68 cases occurred in the left atrium, 4 cases in the right atrium, and 1 case in bilateral atria. Among the 6 cases in the recurrence group, the recurrence time was 1-7 years, with average 4.8 years. In the univariate analysis of recurrent cardiac myxoma pathology, disruption of elastic fiber layer and tumor cells of the tumor stalk invading into the myocardium through the elastic fiber layer were statistically associated with recurrence of cardiac myxoma (<i>P</i><0.05). Logistic regression analyses showed that the invasion of tumor cells through the elastic fiber layer of the heart wall into the myocardium was an independent risk factor for recurrence (<i>Odds Ratio=</i>0.999, <i>P</i><0.05). <b>Conclusion:</b> During the pathologic diagnosis, assessing the relationship between tumor cells in the stalk of cardiac myxoma and elastic fiber layer can help estimate the recurrence risk of cardiac myxoma, and thus guide clinical treatment and postoperative follow-up.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 3","pages":"266-270"},"PeriodicalIF":0.0,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543787","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":"[Status of pathological diagnosis of eosinophilic gastroenteritis].","authors":"X Y Li, W X Zhou","doi":"10.3760/cma.j.cn112151-20240920-00618","DOIUrl":"10.3760/cma.j.cn112151-20240920-00618","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 2","pages":"198-202"},"PeriodicalIF":0.0,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042217","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}