中华病理学杂志最新文献

{"title":"[Clinicopathological and molecular characteristics of renal cell carcinomas with TFEB gene amplification].","authors":"X R Li, X L Liu, Z Wang, Z H Guo, Y X Jiang, Y J Li, W Zhang, W J Yu","doi":"10.3760/cma.j.cn112151-20241209-00835","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241209-00835","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological characteristics, molecular features, differential diagnosis and prognosis of renal cell carcinoma (RCC) with TFEB gene amplification. <b>Methods:</b> A total of 113 cases of unclassified RCCs and RCCs with TFEB positive expression were collected from the Affiliated Hospital of Qingdao University and Navy 971 Hospital from January 2010 to December 2024. Eight cases of RCCs with TFEB amplification were identified using tissue microarrays, immunohistochemistry, and fluorescence in situ hybridization (FISH) techniques. The clinicopathological data and prognosis of the 8 cases were summarized, and relevant literature was reviewed. <b>Results:</b> Among the 8 cases, there were 5 males and 3 females. The average age was 63.4 (54, 77) year and the median age was 63.5 (59.0, 65.5) year. Seven cases were detected through physical examination, and 1 case presented with initial symptoms of metastasis to bones and lungs. The cohort included 1 biopsy specimen and 7 surgical resection specimens. The tumor diameters ranged from 2.5 to 15.0 cm. The cut surfaces of 5 cases were grayish-yellow or grayish-red, and 2 cases exhibited a colorful appearance, among which 3 cases involved renal sinus and 1 case showed invasion of the perirenal fat tissue. Microscopically, 4 cases were composed of clear cells arranged in solid sheets or acinar structures, along with varying numbers of eosinophilic cells. Two cases exhibited the morphology of high-grade eosinophilic RCC, and 1 case presented biphasic morphology with diffuse polygonal eosinophilic tumor cells and dense small cell components. The remaining 1 case exhibited the morphology of clear cell RCC. According to the WHO/ISUP nuclear grading system, 6 cases were Grade 3 and 2 cases were Grade 2. Multifocal necrosis was observed in 4 cases. In 4 surgical specimens, the tumor tissue invaded the renal parenchyma, with 2 cases showing nodular infiltration to surrounding tissues and 1 case with intravascular tumor thrombus. Immunohistochemical results showed varying degrees of TFEB nuclear positivity in 6 cases (6/8). Melanocytic markers such as Melan A (5/8) and HMB45 (3/8) were expressed at varying degrees. Cathepsin K (6/8), GPNMB (6/8), P504s (7/8) and CD10 (7/8) were positively expressed in most cases. FISH results revealed high-copy amplification of TFEB gene in 4 cases (partially showing clustered amplification) and low-copy amplification in 4 cases. During the follow-up period of 3 to 64 months of the 8 cases, 3 cases metastasized and 2 cases died of disease (both with high-copy TFEB gene amplification). <b>Conclusions:</b> RCC with TFEB gene amplification is rare and exhibits diverse morphological features. A common morphological characteristic of this type of tumor is a mixture of sheet-like clear cells and high nuclear grade eosinophilic cells. Combined immunohistochemical staining for TFEB, melanocytic markers, and GPNMB is helpful for the diagnosis o","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"512-517"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989446","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":"[Characteristics of non-small cell lung carcinoma with trophoblastic differentiation in males: a clinicopathological analysis of 16 cases].","authors":"S N Zhao, C Y Wu, L K Hou, H K Xie, W Wu, W Zhang, L P Zhang","doi":"10.3760/cma.j.cn112151-20241023-00696","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241023-00696","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical pathological features, immunophenotypes, diagnosis, and differential diagnosis of non-small cell lung carcinoma (NSCLC) with trophoblastic differentiation in males, and to improve the understanding of this rare disease. <b>Methods:</b> The clinical and pathological features of 16 NSCLC with trophoblastic differentiation in males diagnosed in Shanghai Pulmonary Hospital from January 2017 to December 2023 were retrospectively analyzed. Relevant literature was reviewed. <b>Results:</b> All 16 patients were male, with an onset median age of 66.5 (56.8, 68.8) years. They had no known personal history of cancer. Among the 8 resected NSCLC with trophoblastic differentiation, 3 showed concurrent lung adenocarcinoma, and 1 showed concurrent lung squamous cell carcinoma. Among the 10 patients who underwent serum β human chorionic gonadotropin (β-HCG) testing after the surgery or biopsy, 7 had significantly increased β-HCG. On gross examination, the tumors were hemorrhagic and necrotic, resembling a hematoma, with a medium texture, clear boundaries and no capsules. At low magnification, tumor cells were arranged in a nested or solid pattern. Those cells often showed massive bleeding, necrosis, and vascular infiltration. They were composed of two types of cells, namely cytotrophoblast and syncytiotrophoblast cells. At high magnification, the tumor cells showed large nuclei and hyperchromatia. They also had rich purple blue to bichromatic cytoplasm, eosinophilic nucleoli, and sometimes bizarre nuclei. The syncytiotrophoblast cells expressed β-HCG, CKpan, GATA3, CD10, and SALL4. Fourteen patients were followed up for 1-37 months. Two of them died, while three showed distant metastasis. <b>Conclusions:</b> NSCLC with trophoblastic differentiation in males is a rare and highly malignant tumor, poorly understood with difficulty in diagnosis. It requires comprehensive histological analysis in combination with clinical and imaging studies. Properly diagnosing this disease relies on recognition of its histopathological characteristics, including large areas of bleeding and necrosis, large and peculiar syncytial trophoblast cells, and varying degrees of β-HCG expression. It seems that β-HCG expression is very valuable for diagnosing this rare tumor.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"482-487"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039855","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 PIK3CA gene mutation by fluorescence PCR and its application in molecular diagnosis of macrodactyly].","authors":"M M Tian, Z Y Wang, T T Zhang, D L Gao, J H Wu, Y Ding","doi":"10.3760/cma.j.cn112151-20240813-00512","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240813-00512","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"524-526"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039471","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 practice guideline for molecular pathology in colorectal cancer (2025 version)].","authors":"","doi":"10.3760/cma.j.cn112151-20241206-00827","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241206-00827","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"448-462"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022542","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":"[Cytopathological features of thyroid tumors with DICER1 mutation].","authors":"L Wu, Q Jiao, J Tang, J Z Jin, X L Su, Z Y Liu","doi":"10.3760/cma.j.cn112151-20241125-00783","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241125-00783","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the cytopathological features of thyroid tumor with DICER1 mutation. <b>Methods:</b> A retrospective study on the preoperative cell smear was conducted on thyroid tumors with DICER1 gene mutations detected by Sanger sequencing in the Department of Pathology Shanghai Sixth People's Hospital affiliated to Shanghai Jiaotong University School of Medicine from May 2022 to November 2024. <b>Results:</b> Totally 163 cases with histological features indicating DICER1 mutation related thyroid tumor underwent Sanger sequencing. Fifteen cases were confirmed to harbor DICER1 mutation (15/163,9.2%). Fourteen of 15 patients were female, and only 1 was male; average age 42(31,47) years. Eight cases presented with D1709 hotspot mutation (8/15) and 7 cases with the E1813 hotspot mutation (7/15) and there was no statistical significant difference between mutation rate of different hotspot (<i>F</i>=0.620，<i>P</i>=0.438). All specimens were stained with hematoxylin-eosin staining. A moderate number of cells were observed for all cases, predominantly with macrofollicular pattern and rare small papillae. The cell nuclei were mainly uniform, small, round and dark, slightly enlarged or medium-sized. Several cases could also present RAS-like nuclear features: 3 cases showed visible nuclear grooves. According to the expert consensus on the cytopathological diagnosis of thyroid fine needle aspiration (version 2023),the cytopathological diagnostic categories were: Ⅱ, 6 cases; Ⅲ, 2 cases; Ⅳ, 6 cases; and Ⅴ, 1 case. Postoperative histological diagnoses included follicular thyroid carcinoma in 2 cases, high-grade differentiated thyroid carcinoma in 1 case, follicular thyroid adenoma in 3 cases, follicular thyroid tumor of undetermined malignant potential in 4 case, and thyroid follicular nodular disease in 5 cases. <b>Conclusions:</b> The morphological features of DICER1-mutated thyroid tumors are predominant macrofollicles, with uniformly small round and dark nuclei. It is difficult to identify typically diagnostic atrophic follicles on cell smear, leading to a preoperative diagnosis of benign non-neoplastic or indeterminate category. Therefore, it is necessary to carefully observe the macro-follicles and small round dark nuclear features, which is necessary to suggest a genetic test of DICER1 gene and to confirm the diagnosis before surgery.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"518-523"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040282","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":"[Calcified chondroid mesenchymal neoplasm of the hand: report of a case].","authors":"H X Yang, L H Gong, J Liu, L Jiang, S X Wang","doi":"10.3760/cma.j.cn112151-20241128-00794","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241128-00794","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"533-536"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054276","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 pathological evaluation of non-small-cell lung carcinoma after neoadjuvant therapy].","authors":"Y X Wen, W T Gan, Z H Zhang","doi":"10.3760/cma.j.cn112151-20240904-00591","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240904-00591","url":null,"abstract":"","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"545-550"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048313","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 pulmonary pathology in China over the past ten years: retrospect and prospect].","authors":"S S Feng, S Zhang","doi":"10.3760/cma.j.cn112151-20241024-00697","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241024-00697","url":null,"abstract":"<p><p>Over the past decade, China has made remarkable achievements in the updating of molecular characteristics and diagnostic criteria of lung cancer, pathological characteristics of COVID-19, classification scheme of interstitial lung disease, application of artificial intelligence in pulmonary pathological diagnosis, and clinical application of new biomarkers such as liquid biopsy. The <i>Chinese Journal of Pathology</i> has witnessed a revolution in this field. On the occasion of the 70th anniversary of the journal, this article reviews the development of pulmonary pathology over the past decade and looks forward to the future trend.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"425-434"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017755","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 primary thoracic synovial sarcoma: a study of 42 cases].","authors":"J Han, X Z Gao, Q Du, K Chen, H Y Zhao, J M Zhang, M J Sun, H Li, S C Wang, S L Li","doi":"10.3760/cma.j.cn112151-20240902-00586","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20240902-00586","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinical and pathological characteristics of primary thoracic synovial sarcoma (PTSS). <b>Methods:</b> Forty-two PTSS cases diagnosed at the Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China from October 2011 to April 2024 were analyzed. All cases were retrospectively studied using hematoxylin-eosin staining and immunohistochemistry. Their clinicopathological features were also reviewed. SS18 rearrangement was assessed in 28 cases using fluorescence in situ hybridization (FISH). Next generation sequencing (NGS) was performed on 8 cases. <b>Results:</b> Among the 42 cases, there were 23 biopsies and 19 surgically-removed specimens. One case was a specimen resected after neoadjuvant chemotherapy. There were 22 males and 20 females, with an age ranging from 6 to 68 years. Twenty-nine cases occured in the lung, 6 in mediastinum, 4 in pericardium, 1 in visceral pleura, and 1 in right atrium. One case did not show any unequivocal primary site. Computed tomography showed the tumors were manifested as a cystic mass, a solid mass, or thickening of the pleura and pericardium. Thirty-two cases had respiratory symptoms, while 19 had pleural effusion. One case had a history of radiotherapy for papillary thyroid carcinoma. Nineteen patients were treated with surgery, while 19 were treated with chemotherapy without surgery. Four patients were diagnosed and discharged, without specific treatment on the record. Morphologically, 1 case was biphasic type, 39 cases were monophasic type, and 2 cases were poorly differentiated type. In addition to the typical morphology of synovial sarcoma, tumors also showed pulmonary bullous changes, stromal collagen hyalinization, hemangiopericytoma-like vasculature, stromal edematous myxoid changes, and microcystic structure. Immunohistochemically, all cases were diffusely positive for TRPS1 (22/22), TLE1 (21/22), CD99 (26/26), SS18-SSX (25/25) and INI1 (12/12), including 3 cases with decreased expression of INI1. Twenty-one cases were focally positive for EMA (21/30), 4 cases for SMA (4/23), 2 cases for S-100 (2/28), and 2 cases (2/35) for CKpan. Twenty-eight cases (28/28) had SS18 rearrangement displaying a split signal on FISH analysis. Eight cases were found to have mutations in SMC1A, NOTCH2, CDK12, SPRY4, BRCA1, STK11, NF2, and PDGFRα genes using NGS. Eighteen of the 29 patients survived and 16 showed disease progression. <b>Conclusions:</b> PTSS is more commonly found in the lungs than other sites and has non-classical morphological features of various types, which need to be differentiated from other tumors. TRPS1 is highly expressed in PTSS and has certain diagnostic values. The diagnosis of PTSS also requires combination of patient's medical history with thorough imaging studies.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"488-493"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144027468","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":"[Pathological diagnosis of interstitial lung disease by small biopsy].","authors":"H K Xie, C Y Wu","doi":"10.3760/cma.j.cn112151-20241011-00671","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20241011-00671","url":null,"abstract":"<p><p>The pathological diagnosis of interstitial lung disease (ILD) is challenging, especially with the increasing application and popularization of small biopsy techniques, particularly transbronchial cryobiopsy. As a result, the clinical demand for pathologists to handle small biopsy specimens of ILD in daily practice has been growing. Given the small size of these biopsy specimens and the insufficient diagnostic experience of pathologists in this area, the current pathological diagnosis is struggling to meet clinical needs. Based on our hospital's practical experience in diagnosing ILD from small biopsies, this article summarizes the key steps from initial learning actual to diagnostic procedures, aiming to lower the diagnostic threshold and improve the confirmation rate.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"54 5","pages":"441-447"},"PeriodicalIF":0.0,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036904","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}