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[Multifocal EBV-associated smooth muscle tumors: a clinicopathological analysis of seven cases]. 多灶性ebv相关平滑肌肿瘤:7例临床病理分析
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20251129-00785
L Y Fu, S Y Xi, L Q Ou, J L Hu, W M Hu

Objective: To investigate the clinicopathological and prognostic features, immunophenotypic characteristics, and key points of differential diagnosis of multifocal EBV-associated smooth muscle tumors (EBV-SMT). Methods: The clinicopathological data of 7 cases of EBV-SMT diagnosed in Sun Yat-sen University Cancer Center from June 2020 to March 2025 were retrospectively analyzed. Immunohistochemical staining, Epstein-Barr virus-encoded small RNAs (EBERs) in situ hybridization, and next-generation sequencing were performed, and the relevant literature was reviewed. Results: All 7 patients were children or young adults, with a median age of 7 (2, 33) years. Five patients were immunocompromised due to congenital immune deficiency, autoimmune disease or post-transplant treatment. All the 7 cases presented with multifocal lesions, involving the brain, liver, lungs and adrenal glands. Histologically, 3 cases exhibited a classic spindle cell leiomyoma-like morphology, while the other 4 showed a more primitive round cell morphology resembling smooth muscle cells. All cases expressed smooth muscle markers, such as SMA, calponin, HHF35, h-caldesmon, and desmin, among others. The proliferation index of Ki-67 ranged from 1% to 30%. All cases were diffusely and strongly positive for EBERs by in situ hybridization. Next-generation sequencing identified an ITK gene deletion in one case (case 2). During a follow-up period of 1 to 44 months after diagnosis, 2 patients died, while the remaining 5 survived. Conclusions: EBV-associated smooth muscle tumors are more likely to occur in children or young adults with immune deficiency, often manifesting as multifocal lesions in different organs. Accurate diagnosis relies on a comprehensive assessment incorporating clinical history, histopathological features, and findings of immunohistochemistry and EBERs in situ hybridization.

目的:探讨多灶性ebv相关平滑肌肿瘤(EBV-SMT)的临床病理及预后特点、免疫表型特征及鉴别诊断要点。方法:回顾性分析中山大学肿瘤中心2020年6月至2025年3月诊断的7例EBV-SMT的临床病理资料。进行免疫组化染色、eb病毒编码小rna (EBERs)原位杂交、新一代测序,并对相关文献进行复习。结果:7例患者均为儿童或青壮年,中位年龄为7(2,33)岁。5例患者由于先天性免疫缺陷、自身免疫性疾病或移植后治疗导致免疫功能低下。7例均表现为多灶性病变,累及脑、肝、肺和肾上腺。组织学上,3例表现为典型的梭形细胞样平滑肌瘤形态,4例表现为较为原始的类似平滑肌细胞的圆形细胞形态。所有病例均表达平滑肌标志物,如SMA、钙钙蛋白、HHF35、h-caldesmon和desmin等。Ki-67的增殖指数为1% ~ 30%。所有病例经原位杂交均呈弥漫性强阳性。新一代测序发现一例ITK基因缺失(病例2)。在诊断后1 ~ 44个月的随访中,2例死亡,5例存活。结论:ebv相关的平滑肌肿瘤更容易发生在免疫缺陷的儿童或青壮年,通常表现为不同器官的多灶性病变。准确的诊断依赖于综合临床病史、组织病理学特征、免疫组织化学和EBERs原位杂交结果的综合评估。
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引用次数: 0
[Juvenile granulosa cell tumor with IDH1 gene somatic mutation: report of a case]. 少年颗粒细胞瘤伴IDH1基因体细胞突变1例报告。
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20251102-00726
J Gao, Q L Yao, X Y Zhou, R Bi
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引用次数: 0
[Homologous recombination repair gene variants in hormone-sensitive prostate cancer]. [激素敏感性前列腺癌的同源重组修复基因变异]。
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20250930-00658
H J Liu, Y Yan, H Y He

Objective: To investigate the characteristics of germline/somatic homologous recombination repair (HRR) gene variants in patients with hormone-sensitive prostate cancer (HSPC) and to analyze their associations with clinicopathological features. Methods: A retrospective study was conducted on 108 clinicopathologically high-risk HSPC patients diagnosed at the Peking University Third Hospital, Beijing, China from 2019 to 2022. Next generation sequencing (NGS) was used to simultaneously detect germline and somatic gene variants (32-98 genes, including at least 19 HRR-related genes). The HRR gene variation profiles were characterized. Their correlations with clinicopathological characteristics were analyzed. Results: Genetic mutations were found in 23 patients, the age ranged from 36 to 83, with an age of 66(56,68)years. Germline HRR gene variants were detected in 4 (3.7%, 4/108) of the 108 patients, with BRCA2 being most common (1.9%, 2/108), followed by PALB2(0.9%)/RAD51D(0.9%). Somatic HRR gene variants were identified in 14 patients (13.0%, 14/108), involving 17 variants (affecting BRCA1/BRCA2/ATM/CDK12/FANCA). CDK12 was the most frequently mutated gene. Among these 14 patients, 3 had two different variants (either in different genes or two distinct variants in the same gene). In addition to the most common point-mutations and small insertions/deletions, copy number loss of BRCA1 was detected in 1 case. Non-HRR-related gene variants were identified in 5 patients. Among them, 3(2.8%) had TP53 variants (1 case had mixed acinar and ductal adenocarcinoma) and 2 had PTEN and KRAS mutations. Compared with the patients without gene variations, the ones with somatic HRR gene variations were younger, presented with higher serum total prostate-specific antigen (PSA) levels and more advanced tumor stage (all P<0.05). No significant correlations were observed between somatic HRR gene variants and free PSA levels or grade groups (P>0.05). Conclusions: HSPC exhibits high genetic heterogeneity. BRCA2 is the most common gene with germline variations, while CDK12 is the most frequently mutated gene in somatic HRR variants. This study suggests that HRR gene testing in patients with high-risk HSPC would help identify those with more aggressive clinical features and guide prognostication and potential targeted therapeutic strategies.

目的:探讨激素敏感性前列腺癌(HSPC)患者种系/体细胞同源重组修复(HRR)基因变异的特点,并分析其与临床病理特征的关系。方法:对2019 - 2022年北京大学第三医院诊断的108例HSPC临床病理高危患者进行回顾性研究。下一代测序(NGS)同时检测种系和体细胞基因变异(32-98个基因,包括至少19个hrr相关基因)。对HRR基因变异谱进行了分析。分析其与临床病理特征的相关性。结果:23例患者发生基因突变,年龄36 ~ 83岁,其中年龄66(56,68)岁。108例患者中有4例(3.7%,4/108)检测到种系HRR基因变异,其中BRCA2最常见(1.9%,2/108),其次是PALB2(0.9%)/RAD51D(0.9%)。在14例(13.0%,14/108)患者中鉴定出体细胞HRR基因变异,涉及17种变异(影响BRCA1/BRCA2/ATM/CDK12/FANCA)。CDK12是最常见的突变基因。在这14例患者中,3例患者有两种不同的变异(要么是不同的基因,要么是同一基因的两种不同的变异)。除了最常见的点突变和小的插入/缺失外,1例中检测到BRCA1拷贝数丢失。在5例患者中发现非hrr相关基因变异。其中TP53突变3例(2.8%)(腺泡和导管腺癌混合1例),PTEN和KRAS突变2例。与无基因变异的患者相比,有体细胞HRR基因变异的患者年龄更轻,血清总前列腺特异性抗原(PSA)水平更高,肿瘤分期更晚(p < 0.05)。结论:HSPC具有较高的遗传异质性。BRCA2是生殖系变异中最常见的基因,而CDK12是体细胞HRR变异中最常见的突变基因。本研究表明,在高危HSPC患者中进行HRR基因检测将有助于识别那些具有更强侵袭性临床特征的患者,并指导预后和潜在的靶向治疗策略。
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引用次数: 0
[Massive perivillous fibrin deposition in twin placentas: a clinicopathological analysis of eleven cases]. 双胎胎盘大量绒毛周围纤维蛋白沉积:11例临床病理分析。
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20250409-00254
Y Zhao, W Y Gu, L L Zhang, T Yu, X Tao

Objective: To investigate the clinical and pathological characteristics of massive perivillous fibrin deposition (MPFD) in twin placentas. Methods: A retrospective analysis was performed on 11 cases of MPFD in twin pregnancies diagnosed at the Obstetrics and Gynecology Hospital Affiliated to Fudan University between January 2018 and December 2024. Maternal and fetal clinical features, as well as placental pathological findings, were summarized. Results: MPFD cases accounted for 2.8% (11/390) of all twin placentas submitted for pathological examination during the study period. Clinical analysis revealed that 6/11 cases were conceived via in vitro fertilization-embryo transfer; 10/11 women had a history of spontaneous abortion, with 3/11 meeting the criteria for adverse obstetric history (≥3 spontaneous abortions or perinatal deaths). Prenatal abnormalities in fetuses primarily included intrauterine growth restriction, intrauterine distress, and intrauterine death. Placental pathological examination showed generally low placental weight, advanced maturation in most cases, and more than 25% of villi surrounded by abundant amorphous eosinophilic fibrinoid material, leading to complete obstruction of the intervillous spaces. In one case of recurrent MPFD, only one placenta in a dichorionic diamniotic twin pregnancy was affected, with the corresponding fetus exhibiting intrauterine growth restriction. The rate of adverse obstetric outcomes was 10/11, including miscarriage (3/11), single or twin intrauterine death (3/11), and preterm birth (5/11). Follow-up for over 4-72 months indicated that one case was lost to follow-up, while the remaining mothers recovered well and live-born infants demonstrated normal development. Conclusions: MPFD can occur in twin pregnancies and may manifest as discordant involvement between co-twins, primarily presenting as adverse pregnancy outcomes such as fetal growth restriction. MPFD has a tendency for recurrence, and clinicians should remain vigilant for its consequence in high-risk twin pregnancies. Placental pathological examination plays a critical role in confirming diagnosis and guiding subsequent pregnancy management.

目的:探讨双胎胎盘大量绒毛周围纤维蛋白沉积(MPFD)的临床和病理特点。方法:回顾性分析2018年1月至2024年12月在复旦大学附属妇产科医院诊断的11例双胎MPFD。总结了母胎临床特点及胎盘病理表现。结果:MPFD病例占研究期间所有提交病理检查的双胎胎盘的2.8%(11/390)。临床分析:6/11例为体外受精-胚胎移植妊娠;10/11妇女有自然流产史,3/11符合不良产科史标准(≥3次自然流产或围产期死亡)。胎儿产前异常主要包括宫内生长受限、宫内窘迫和宫内死亡。胎盘病理检查显示,胎盘重量普遍较低,多数成熟较早,超过25%的绒毛被大量无定形的嗜酸性纤维蛋白物质包围,绒毛间隙完全阻塞。在一例复发性MPFD中,双绒毛膜双羊膜双胎妊娠中只有一个胎盘受到影响,相应的胎儿表现出宫内生长受限。产科不良结局发生率为10/11,包括流产(3/11)、单胎或双胎宫内死亡(3/11)和早产(5/11)。随访4-72个月,1例失访,其余母亲恢复良好,活产婴儿发育正常。结论:MPFD可发生在双胎妊娠中,并可能表现为双胞胎之间的不一致受累,主要表现为不良妊娠结局,如胎儿生长受限。MPFD有复发的倾向,临床医生应警惕其在高危双胎妊娠中的后果。胎盘病理检查对确诊和指导后续妊娠处理具有重要作用。
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引用次数: 0
[Sertoli-leydig cell tumor of the ovary with rare DICER1 mutation locus: report of a case]. [罕见DICER1突变位点的卵巢上皮细胞瘤1例报告]。
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20251129-00788
C Xu, Y Xu, G Chen, C Wang
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引用次数: 0
[YWHAE-rearranged clear cell sarcoma of kidney: a clinicopathological analysis of seven cases]. 【肾ywhae重排透明细胞肉瘤7例临床病理分析】。
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20251027-00710
Z W Xing, X L Wang, L Chen

Objective: To investigate the clinicopathological features and molecular genetic alterations of the YWHAE-rearranged clear cell sarcoma of the kidney (CCSK), and to improve the diagnostic and differential diagnostic accuracy of the subtype of renal clear cell sarcoma. Methods: A retrospective analysis was performed on 7 cases of YWHAE-rearranged CCSK diagnosed and treated at the Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China and the Children's Hospital of Fudan University, Shanghai, China between January 2018 and October 2023.Their clinicopathological characteristics were analyzed using HE staining, immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Patient survival was assessed based on follow-up data. Results: Of the 7 patients with YWHAE-rearranged CCSK, 4 were male and 3 were female, aged 1.0-7.0 years, with an age of 2.0 (1.6, 6.0) years. The primary symptom was predominantly an abdominal mass (6 cases), with 1 case presented with abdominal pain and vomiting. All tumors were unilateral (left side in 3 cases, and right side in 4 cases). Preoperative imaging suspected Wilms tumor in all cases. Histologically, the classic type (4/7) and spindle cell type (2/7) were predominant while one case showed a mixed classic and epithelioid pattern. Vascular invasion was present in 3 cases, and lymph node metastasis was identified in 1 case. IHC results showed diffuse positivity for cyclin D1, bcl-2, and SATB2 in all cases, with varying expression of BCOR. FISH with break-apart probes analyses confirmed YWHAE (17p13) gene fusions in all cases. NGS performed in 2 cases revealed the presence of YWHAE::NUTM2 fusions, accompanied by mutations in FBXW7 or CREBBP gene. There were 5 Stage-Ⅲ cases and 2 Stage-Ⅳ cases. Postoperative follow-up ranged from 20 to 69 months and showed 3 patients with metastasis or recurrence. One of them also developed chronic renal failure. Conclusions: YWHAE-rearranged CCSK exhibits morphological heterogeneity and aggressive behaviors. Definitive diagnosis relies on molecular testing (such as FISH or NGS), which is crucial for differential diagnosis and prognostic evaluation. This subtype of CCSK is commonly associated with advanced clinical stage and early metastasis/recurrence, highlighting the necessity for improving risk stratification and clinical management.

目的:探讨肾ywhae重排透明细胞肉瘤(CCSK)的临床病理特征及分子遗传学改变,提高肾透明细胞肉瘤亚型的诊断和鉴别诊断准确性。方法:回顾性分析2018年1月至2023年10月在上海交通大学医学院上海儿童医院和复旦大学附属儿童医院诊治的7例ywhae -重排CCSK。采用HE染色、免疫组织化学(IHC)、荧光原位杂交(FISH)和下一代测序(NGS)分析其临床病理特征。根据随访数据评估患者生存。结果:7例ywhae重排CCSK患者中,男性4例,女性3例,年龄1.0 ~ 7.0岁,其中年龄2.0(1.6、6.0)岁。主要症状为腹部肿块(6例),其中1例表现为腹痛和呕吐。所有肿瘤均为单侧(左侧3例,右侧4例)。术前影像学均怀疑肾母细胞瘤。组织学上以经典型(4/7)和梭形细胞型(2/7)为主,1例表现为经典型和上皮样型混合。3例有血管侵犯,1例有淋巴结转移。免疫组化结果显示,所有病例细胞周期蛋白D1、bcl-2和SATB2弥漫性阳性,BCOR表达不同。FISH分离探针分析证实所有病例中存在YWHAE (17p13)基因融合。2例NGS显示存在YWHAE::NUTM2融合,并伴有FBXW7或CREBBP基因突变。Ⅲ期5例,Ⅳ期2例。术后随访20 ~ 69个月,3例出现转移或复发。其中一人还患上了慢性肾衰竭。结论:ywhae重排CCSK具有形态异质性和攻击行为。最终诊断依赖于分子检测(如FISH或NGS),这对于鉴别诊断和预后评估至关重要。该亚型CCSK通常与晚期临床阶段和早期转移/复发相关,强调了改善风险分层和临床管理的必要性。
{"title":"[YWHAE-rearranged clear cell sarcoma of kidney: a clinicopathological analysis of seven cases].","authors":"Z W Xing, X L Wang, L Chen","doi":"10.3760/cma.j.cn112151-20251027-00710","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20251027-00710","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological features and molecular genetic alterations of the YWHAE-rearranged clear cell sarcoma of the kidney (CCSK), and to improve the diagnostic and differential diagnostic accuracy of the subtype of renal clear cell sarcoma. <b>Methods:</b> A retrospective analysis was performed on 7 cases of YWHAE-rearranged CCSK diagnosed and treated at the Shanghai Children's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China and the Children's Hospital of Fudan University, Shanghai, China between January 2018 and October 2023.Their clinicopathological characteristics were analyzed using HE staining, immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Patient survival was assessed based on follow-up data. <b>Results:</b> Of the 7 patients with YWHAE-rearranged CCSK, 4 were male and 3 were female, aged 1.0-7.0 years, with an age of 2.0 (1.6, 6.0) years. The primary symptom was predominantly an abdominal mass (6 cases), with 1 case presented with abdominal pain and vomiting. All tumors were unilateral (left side in 3 cases, and right side in 4 cases). Preoperative imaging suspected Wilms tumor in all cases. Histologically, the classic type (4/7) and spindle cell type (2/7) were predominant while one case showed a mixed classic and epithelioid pattern. Vascular invasion was present in 3 cases, and lymph node metastasis was identified in 1 case. IHC results showed diffuse positivity for cyclin D1, bcl-2, and SATB2 in all cases, with varying expression of BCOR. FISH with break-apart probes analyses confirmed YWHAE (17p13) gene fusions in all cases. NGS performed in 2 cases revealed the presence of YWHAE::NUTM2 fusions, accompanied by mutations in FBXW7 or CREBBP gene. There were 5 Stage-Ⅲ cases and 2 Stage-Ⅳ cases. Postoperative follow-up ranged from 20 to 69 months and showed 3 patients with metastasis or recurrence. One of them also developed chronic renal failure. <b>Conclusions:</b> YWHAE-rearranged CCSK exhibits morphological heterogeneity and aggressive behaviors. Definitive diagnosis relies on molecular testing (such as FISH or NGS), which is crucial for differential diagnosis and prognostic evaluation. This subtype of CCSK is commonly associated with advanced clinical stage and early metastasis/recurrence, highlighting the necessity for improving risk stratification and clinical management.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 2","pages":"140-146"},"PeriodicalIF":0.0,"publicationDate":"2026-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146126636","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 and molecular characteristics of extraskeletal myxoid chondrosarcoma: an analysis of sixteen cases]. 16例骨外黏液样软骨肉瘤的临床病理及分子特征分析
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20251129-00787
X F Qin, L Li, R F Dong, K K Pan, M Zhang, L Zhao, T W Zhang, Y Ding

Objective: To investigate the clinicopathological features, molecular characteristics and differential diagnosis of extraskeletal myxoid chondrosarcoma (EMC). Methods: A total of 16 cases of EMC diagnosed from January 2016 to February 2025 were collected from Luoyang Orthopedic-Traumatological Hospital of Henan Province (Henan Provincial Orthopedic Hospital, 3 cases) and Beijing Jishuitan Hospital, Capital Medical University (13 cases) for clinicopathological, immunohistochemical, fluorescence in situ hybridization (FISH) and next generation sequencing analyses and follow-up. Results: There were 11 males and 5 females, with a median age of 51(30, 73) years. The tumor sites included extremities (n=12), trunk (n=3), and sacrum (n=1). Histologically, EMC showed two distinct subtypes. Fourteen cases (14/16) were classic subtype with pale-blue myxoid or chondromyxoid matrix. The cells characteristically interconnected with one another to form cords, small clusters, and complex trabecular or cribriform patterns. The tumor cells were round, ovoid, short spindle or star-shaped; some may be rhabdoid with eosinophilic cytoplasm and eccentrically placed nuclei. Two cases were cellular subtype, demonstrating solid sheets of epithelioid cells with minimal intervening myxoid matrix, large vesicular nuclei, prominent nucleoli, and brisk mitotic activity. Immunohistochemistry showed that the cells diffusely or partially expressed vimentin, CD117, Syn, INSM-1, CD34, SMA and NSE, but were negative for pan-keratin (AE1/AE3), S-100, calponin, desmin and brachyury. INI1 expression was not deleted. The proliferation index of Ki-67 ranged from 2% to 15% in the classic subtype and 5% in the cellular subtype. NR4A3 gene rearrangement was detected by FISH in 15 cases (15/16), and EWSR1::NR4A3 fusion was confirmed by next-generation sequencing in 4 cases. Follow-up data were available in 14 patients (1-104 months), of whom 7 (7/14) developed local recurrence and 2 (2/14) developed distant metastases. Conclusions: EMC is a rare mesenchymal malignancy that arises not only in soft tissues but also in bone. The predominant histological subtype is classical EMC, with a minority presenting as cell-rich EMC. FISH detection of NR4A3 gene rearrangements provides a crucial value for the diagnosis. It needs to be differentiated from myoepithelial tumors, chordomas and myxoid liposarcomas.

目的:探讨骨外黏液样软骨肉瘤(EMC)的临床病理特征、分子特征及鉴别诊断。方法:收集2016年1月- 2025年2月在河南省洛阳市骨科创伤医院(河南省骨科医院3例)和首都医科大学北京积水潭医院(首都医科大学附属北京积水潭医院13例)诊断的EMC患者16例,进行临床病理、免疫组织化学、荧光原位杂交(FISH)和下一代测序分析及随访。结果:男性11例,女性5例,中位年龄51(30,73)岁。肿瘤部位包括四肢(n=12)、躯干(n=3)和骶骨(n=1)。组织学上,EMC表现为两个不同的亚型。14例(14/16)为典型亚型,伴淡蓝色粘液样或软骨粘液样基质。细胞相互连接形成索状、小簇状和复杂的小梁状或筛网状。肿瘤细胞呈圆形、卵球形、短梭形或星形;有些可呈横纹肌样,细胞质嗜酸性,细胞核位置偏置。2例为细胞亚型,表现为固体上皮样细胞片,中间有少量黏液基质,泡状核大,核仁突出,有丝分裂活跃。免疫组化结果显示,vimentin、CD117、Syn、INSM-1、CD34、SMA、NSE呈弥散或部分表达,泛角蛋白(AE1/AE3)、S-100、calponin、desmin、brachyury呈阴性表达。INI1表达未被删除。经典亚型Ki-67的增殖指数为2% ~ 15%,细胞亚型为5%。15例(15/16)经FISH检测NR4A3基因重排,4例经新一代测序证实EWSR1::NR4A3融合。随访14例(1-104个月),其中7例(7/14)局部复发,2例(2/14)远处转移。结论:EMC是一种罕见的间充质恶性肿瘤,不仅发生于软组织,也可发生于骨。主要的组织学亚型是典型的EMC,少数表现为细胞丰富的EMC。FISH检测NR4A3基因重排对诊断具有重要价值。需与肌上皮性肿瘤、脊索瘤及黏液样脂肪肉瘤鉴别。
{"title":"[Clinicopathological and molecular characteristics of extraskeletal myxoid chondrosarcoma: an analysis of sixteen cases].","authors":"X F Qin, L Li, R F Dong, K K Pan, M Zhang, L Zhao, T W Zhang, Y Ding","doi":"10.3760/cma.j.cn112151-20251129-00787","DOIUrl":"https://doi.org/10.3760/cma.j.cn112151-20251129-00787","url":null,"abstract":"<p><p><b>Objective:</b> To investigate the clinicopathological features, molecular characteristics and differential diagnosis of extraskeletal myxoid chondrosarcoma (EMC). <b>Methods:</b> A total of 16 cases of EMC diagnosed from January 2016 to February 2025 were collected from Luoyang Orthopedic-Traumatological Hospital of Henan Province (Henan Provincial Orthopedic Hospital, 3 cases) and Beijing Jishuitan Hospital, Capital Medical University (13 cases) for clinicopathological, immunohistochemical, fluorescence in situ hybridization (FISH) and next generation sequencing analyses and follow-up. <b>Results:</b> There were 11 males and 5 females, with a median age of 51(30, 73) years. The tumor sites included extremities (<i>n</i>=12), trunk (<i>n</i>=3), and sacrum (<i>n</i>=1). Histologically, EMC showed two distinct subtypes. Fourteen cases (14/16) were classic subtype with pale-blue myxoid or chondromyxoid matrix. The cells characteristically interconnected with one another to form cords, small clusters, and complex trabecular or cribriform patterns. The tumor cells were round, ovoid, short spindle or star-shaped; some may be rhabdoid with eosinophilic cytoplasm and eccentrically placed nuclei. Two cases were cellular subtype, demonstrating solid sheets of epithelioid cells with minimal intervening myxoid matrix, large vesicular nuclei, prominent nucleoli, and brisk mitotic activity. Immunohistochemistry showed that the cells diffusely or partially expressed vimentin, CD117, Syn, INSM-1, CD34, SMA and NSE, but were negative for pan-keratin (AE1/AE3), S-100, calponin, desmin and brachyury. INI1 expression was not deleted. The proliferation index of Ki-67 ranged from 2% to 15% in the classic subtype and 5% in the cellular subtype. NR4A3 gene rearrangement was detected by FISH in 15 cases (15/16), and EWSR1::NR4A3 fusion was confirmed by next-generation sequencing in 4 cases. Follow-up data were available in 14 patients (1-104 months), of whom 7 (7/14) developed local recurrence and 2 (2/14) developed distant metastases. <b>Conclusions:</b> EMC is a rare mesenchymal malignancy that arises not only in soft tissues but also in bone. The predominant histological subtype is classical EMC, with a minority presenting as cell-rich EMC. FISH detection of NR4A3 gene rearrangements provides a crucial value for the diagnosis. It needs to be differentiated from myoepithelial tumors, chordomas and myxoid liposarcomas.</p>","PeriodicalId":35997,"journal":{"name":"中华病理学杂志","volume":"55 2","pages":"160-166"},"PeriodicalIF":0.0,"publicationDate":"2026-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146126817","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 evaluation and research progress of renal cell carcinoma with tumor thrombus]. 【肾细胞癌合并肿瘤血栓的病理评价及研究进展】。
Q3 Medicine Pub Date : 2026-02-08 DOI: 10.3760/cma.j.cn112151-20250928-00651
X J Wang, H Y He

Renal cell carcinoma with tumor thrombus is a subtype of urinary system malignancy with high clinical challenges. In recent years, with the development of pathological techniques and growing insights into molecular mechanism research, significant progress has been made in the fields of molecular regulation of tumor thrombus formation, precise pathological assessment, and optimization of staging systems. This article focuses on the pathological features of renal cell carcinoma with tumor thrombus, systematically sorts out the application differences of the clinical staging and grading system of tumor thrombus, explores the impact of pathological assessment on clinical staging, treatment strategy selection and patient prognosis, and analyzes the formation mechanism of tumor thrombus from the perspectives of relevant molecular and cellular ecology.

肾细胞癌伴肿瘤血栓是泌尿系统恶性肿瘤的一种亚型,具有很高的临床挑战性。近年来,随着病理技术的发展和分子机制研究的深入,在肿瘤血栓形成的分子调控、精准病理评估、分期系统优化等方面取得了重大进展。本文针对肾细胞癌合并肿瘤血栓的病理特点,系统梳理肿瘤血栓临床分期及分级体系的应用差异,探讨病理评估对临床分期、治疗策略选择及患者预后的影响,并从相关分子和细胞生态学角度分析肿瘤血栓的形成机制。
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引用次数: 0
[Polymorphous low-grade neuroepithelial tumor of the young: a molecular pathological study]. [青少年多形性低级别神经上皮肿瘤:分子病理学研究]。
Q3 Medicine Pub Date : 2026-01-08 DOI: 10.3760/cma.j.cn112151-20250729-00517
Q Qin, L A Guo, T Luo, D D Wang, L Chen, L H Teng, D H Lu, X H Yao, Y S Piao

Objective: To investigate the clinical, radiologic, pathological and molecular genetic features of polymorphous low-grade neuroepithelial tumor of the young (PLNTY). Methods: A retrospective analysis was performed on fourteen PLNTY cases, diagnosed at the Department of Pathology, Xuanwu Hospital, Capital Medical University, from August 2018 to December 2024. The clinical, radiologic, prognostic, histopathological, molecular genetic features, and DNA methylation clustering were analyzed. Results: Among the 14 patients (10 males, 4 females), the age range was 8-34 years, with a median age of 21 (14, 29) years. The patient's major, initial clinical symptom was epilepsy (13/14). Among 9 MRI exanimated cases, 4 showed cystic-solid abnormal signals, and 5 appeared as solid masses. Most were hypointense on T1 and hyperintense on T2. Five cases had enhancement, with no obvious diffusion restriction on DWI. Among 5 CT examined cases, 4 showed high density, and 1 showed low density. The characteristic histopathologic features of the tumor cells were oligodendroglioma-like, spindle, pleomorphic and associated with foci of calcifications. GFAP and Olig2 were expressed in tumor cells in all 14 cases (14/14). Neuronal markers (NeuN, NF) were negative in 13/13 cases. CD34 showed diffuse strong positivity in all cases (14/14). BRAF V600E was positive in 8/11 cases. Thirteen cases (13/13) harbored mitogen-activated protein kinase (MAPK) pathway alterations, including BRAF (10/13) and FGFR2/3 (3/13) gene mutations. In 7 PLNTY cases, t-SNE cluster analysis of DNA methylation profiles showed clustering with ganglioglioma, PLNTY, and pilocytic astrocytoma. Until November 2025, 13 patients have been seizure-free postoperatively, and all 14 patients showed no tumor progression or recurrence. Conclusions: PLNTY usually occurs in adolescents and is associated with epilepsy. Its diagnosis necessitates a combination of clinical, histopathological, and molecular genetic alterations. In molecular level, PLNTY exhibits alterations in the MAPK pathway; while its DNA methylation profile demonstrates diversity. Most patients achieved seizure-free outcomes postoperatively, indicating a favorable prognosis.

目的:探讨青少年多形性低级别神经上皮肿瘤(PLNTY)的临床、影像学、病理及分子遗传学特征。方法:回顾性分析2018年8月至2024年12月首都医科大学宣武医院病理科诊断的14例PLNTY病例。分析临床、放射学、预后、组织病理学、分子遗传特征和DNA甲基化聚类。结果:14例患者(男10例,女4例),年龄8 ~ 34岁,中位年龄21(14、29)岁。患者的主要首发临床症状为癫痫(13/14)。9例MRI检查中,4例表现为囊实性异常信号,5例表现为实性肿块。多数T1呈低信号,T2呈高信号。5例增强,DWI无明显扩散限制。5例CT检查中,高密度4例,低密度1例。肿瘤细胞的组织学特征为少突胶质细胞样,梭形,多形性,并伴有钙化灶。14例肿瘤细胞中均表达GFAP和Olig2(14/14)。神经元标志物NeuN、NF阴性13/13例。CD34在所有病例中呈弥漫性强阳性(14/14)。8/11例BRAF V600E阳性。13例(13/13)有丝裂原活化蛋白激酶(MAPK)通路改变,包括BRAF(10/13)和FGFR2/3(3/13)基因突变。在7例PLNTY病例中,DNA甲基化谱的t-SNE聚类分析显示与神经节胶质瘤、PLNTY和毛细胞星形细胞瘤聚类。截至2025年11月,13例患者术后无癫痫发作,14例患者均无肿瘤进展或复发。结论:PLNTY通常发生在青少年,并与癫痫有关。其诊断需要结合临床,组织病理学和分子遗传改变。在分子水平上,PLNTY表现出MAPK通路的改变;而其DNA甲基化谱显示出多样性。大多数患者术后无癫痫发作,预后良好。
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引用次数: 0
[Cardiac granular cell tumor: report of a case]. 【心脏颗粒细胞瘤1例报告】。
Q3 Medicine Pub Date : 2026-01-08 DOI: 10.3760/cma.j.cn112151-20250722-00497
Y Guo, J Zhao, W Xing, C C Ai
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中华病理学杂志
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