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中华病理学杂志
中华病理学杂志

郑杰

月刊

0529-5807

cjpa@cma.org.cn

010-85158243

100710

北京市东城区东四西大街42号

中华病理学杂志/Journal Chinese Journal of PathologyCSCD北大核心CSTPCD
查看更多>>1955年4月创刊，中华医学会主办。本刊是基础性和高科技的国家级重点学术期刊、核心期刊。以广大病理医师、临床医师和相关研究人员为主要读者和服务对象，全面反映我国人体和实验病理学领域中领先的科研成果和临床病理诊断经验、相关的基础理论研究和世界前沿科技信息，是我国病理学工作者的首选期刊。本刊图文并茂，栏目丰富，富有特色，栏目设置：述评、专家论坛、论著、研究简报、讲座、综述、技术交流、新技术与病理诊断、读片讨论、专题讨论、学术动态、病例报告、消息、读者?作者?编者等栏目。
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    肺神经内分泌肿瘤病理诊断和分子病理进展

    吴江华朱艳丽王海月刘艳辉...
    109-115页
    查看更多>>摘要：2021版WHO肺肿瘤分类中肺神经内分泌肿瘤的病理分型和诊断标准较之前无显著变化。但近年来的分子病理研究表明，肺小细胞癌和大细胞神经内分泌癌均是具有神经内分泌特征的高度异质性肿瘤，可以通过基因组或转录组的关键特征进行分子分型，对肿瘤亚型诊断以及指导患者治疗有重要参考价值。此外，“肺神经内分泌瘤G3”和“组织学转化”等新兴概念如何从病理角度进行解读以及INSM1和POU2F3等新型神经内分泌标志物应用等也需要了解和认知。本文结合2021版WHO分类和新近相关分子病理进展，对肺神经内分泌肿瘤诊断变化和分子分型进行评述。 The pathological classification and diagnostic criteria for lung neuroendocrine neoplasms (NENs) in the 2021 World Health Organization (WHO) lung tumor classification are similar to the prior classifications. However, the advances on the molecular studies of lung NENs have shown that both small cell lung carcinoma and large cell neuroendocrine carcinoma are highly heterogeneous tumors with neuroendocrine characteristics and can be subclassified based on the features of genomics or transcriptomics, which are valuable in the diagnosis of lung NENs subtypes and patient treatment. In addition, it is necessary to interpret emerging concepts such as "lung neuroendocrine tumor G3" and "histological transformation" from pathological perspectives, as well as to know the novel neuroendocrine biomarkers such as INSM1 and POU2F3. This article summarized the diagnostic changes and the advances of molecular pathology of lung NENs based on the latest WHO classification and molecular research.

    肺肿瘤神经内分泌瘤癌,神经内分泌分子诊断技术

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    重视数字病理整体效益 加快数字化病理科建设

    姚建国步宏王世贤
    116-120页
    查看更多>>摘要：国外全数字化病理科的成功运行，标志着全数字病理流程已进入全面实施阶段。国内数字病理起步晚、进展慢，至今尚未有真正意义的全数字病理科出现。业界对数字病理的认识还不够全面深入，对数字病理流程的时间效率和成本效益还存有疑虑。因此，作者借鉴国际上的成功经验和实践感受对全数字化病理的流程、整体优势和成本效益等进行了全面的解析，以期促进我国的数字化病理科建设和发展。 The successful operation of the complete digital pathology(CDP) in foreign countries indicates that the full digital pathology process has entered the full implementation stage. Digital pathology in China started late and progressed slowly, so far there has not been a truly meaningful CDP. The pathologist′s understanding of digital pathology is not comprehensive enough, and there are still doubts about the time efficiency and cost effectiveness of digital pathology processes. Therefore,a comprehensive analysis of the process, overall advantages and cost-effectiveness of CDP was made by drawing on international successful experience and hands-on practice experience, in order to promote the construction and development of the CDP in our country.

    病理科,医院病理学,临床数字病理

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    非小细胞肺癌PD-L1表达临床检测中国专家共识（2023版）

    林冬梅应建明陆舜周彩存...
    121-129页
    查看更多>>摘要：近年来，随着针对程序性死亡受体1（programmed death 1，PD-1）及程序性死亡配体1（programmed death ligand 1，PD-L1）的免疫检查点抑制剂在中国获批的非小细胞肺癌适应证逐步增多，尤其是辅助免疫治疗及新辅助免疫治疗在临床实践中的不断应用，PD-L1免疫组织化学检测适用人群也随之有所变化。另外，国产PD-L1检测试剂也获批作为伴随诊断。因此，本共识在整合2020版国内PD-L1检测共识基础上，纳入近3年有关临床诊治进展内容，为适应并满足临床应用现状和需求，通过共识会议最终形成8条更新意见，旨在更好地指导非小细胞肺癌PD-1/PD-L1免疫检查点抑制剂临床应用中对PD-L1免疫组织化学表达检测的规范使用。随着后续更多研究与临床实践经验和数据的进一步积累，将会陆续进行相关内容的更新和完善。
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    成人肺先天性囊性腺瘤样畸形及其伴发肺癌间的临床病理学和基因特征分析

    梁琳武春燕张莉萍侯立坤...
    130-135页
    查看更多>>摘要：目的 探讨成人肺先天性囊性腺瘤样畸形（congenital cystic adenomatoid malformation，CCAM）及其伴发肺癌间临床病理学特征的异同并探索其基因特征性改变。 方法 收集同济大学附属上海市肺科医院病理科2015年6月至2023年5月诊断的13例成人肺CCAM病例，分析其临床病理特点，对其病理分型、组织学特点以及与肺癌发生的相关性进行讨论，并对这13例病例的良性及癌变区域分别进行二代测序。 结果 13例成人肺CCAM的病理分型均为1型，男性4例，女性9例，年龄18~65岁，平均年龄41岁，其中6例伴发肺癌且均为黏液腺癌。发生癌变的病例囊壁内可见黏液腺上皮增生，周围可见黏液腺癌。二代测序结果显示，13例病例中仅2例未检测到基因突变，在7例具有KRAS基因第2号外显子突变的病例中6例伴发黏液腺癌，且同一病例中无论是癌变区域还是良性区域均具有相同位点的KRAS基因突变。 结论 成人肺CCAM是一种先天性疾病，其中成人患者最常见的病理分型为1型，且常可伴发黏液腺癌，基因突变较为常见，其中KRAS基因突变最为常见且与癌变高度相关，其发生在黏液腺上皮增生/黏液腺癌之前，可能是驱动癌变的重要因素。 Objective To investigate the clinicopathological features and genetic characteristics of congenital cystic adenomatoid malformation (CCAM) of lung and CCAM associated lung cancer in adults. Methods A total of 13 cases of CCAM of lung in adults, diagnosed from June 2015 to May 2023, were collected from the Department of Pathology, Shanghai Pulmonary Hospital, Tongji University School of Medicine, China. Their histopathological features were correlated with probable development into lung cancer. Next-generation sequencing was performed on the benign and malignant areas of all cases. Results The pathological classification of all cases were of CCAM of lung type 1. There were 4 male and 9 female cases, age ranged from 18 to 65 years, with a mean age of 41 years. Six cases were accompanied by lung cancer, all of them were mucinous adenocarcinoma. Next-generation sequencing showed no gene mutation in 2 of the 13 cases KRAS mutations in exon 2 were detected in 7 cases, in which there were 6 cases complicated with lung mucinous adenocarcinoma and no matter in the malignant or benign regions, the same case exhibited the same mutation sites in KRAS gene. Conclusions CCAM of the lung is a congenital disease, and in adults, type 1 is most commonly found in the pathological classification, and it is often accompanied by cancer. Gene mutations are frequently detected in CCAM of the lung, KRAS being the most recurrent mutation which may play an important role in the carcinogenesis.

    肺疾病腺癌,黏液DNA突变分析基因,ras先天性囊性腺瘤样畸形

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    SMARCA4缺失性肺腺癌42例临床病理学分析

    韩静高献争许跃刘恩杰...
    136-142页
    查看更多>>摘要：目的 探讨SMARCA4缺失性肺腺癌临床病理学特征及基因突变情况。 方法 收集郑州大学第一附属医院病理科2021年1月至2023年4月诊断为肺腺癌且伴有SMARCA4缺失病例42例，回顾性分析HE切片、免疫组织化学染色，总结临床病理特征，并随访患者生存情况。对部分病例进行二代测序。 结果 42例SMARCA4缺失性肺腺癌，穿刺标本35例，手术标本7例。男性38例，女性4例，男女比例为9.5∶1.0。年龄42~78岁，平均年龄62岁。吸烟者33例，平均吸烟时长37年。有呼吸系统症状25例（59.5%）。TNM分期Ⅰ期4例（9.5%），Ⅱ期2例（4.7%），Ⅲ期18例（42.9%），Ⅳ期18例（42.9%）。肿瘤组织均为非黏液腺癌，无贴壁模式，大部分为低分化腺癌，组织形态多样，可见横纹肌样形态细胞、瘤巨细胞及坏死。肿瘤细胞胞质大部分嗜酸性，胞质内有嗜酸性小球，间质可见炎性细胞浸润及胆固醇结晶。免疫组织化学：29例（69.0%，29/42）表达甲状腺转录因子1（TTF1），10例（40.0%，10/25）表达Napsin A，20例（100.0%，20/20）INI1未缺失；40例（95.2%，40/42）肿瘤细胞BRG1完全缺失，2例（4.8%，2/42）为BRG1部分缺失；PD-L1（22C3）59.2%（16/27）阳性。二代测序检测发现表皮生长因子受体、ROS1、MET、RET及KRAS突变，6例（6/8）SMARCA4突变，7例（7/15）p53、4例（4/8）STK11及1例（1/8）KEAP1突变。驱动基因改变多见于女性患者（P<0.05）。随访1~25个月，4例死亡，20例进展。 结论 SMARCA4缺失性肺腺癌缺乏特征性的组织形态，大部分表达TTF1，少数病例有驱动基因的改变，有必要对肺腺癌常规进行BRG1免疫组织化学检测，筛选出此类病例，以便采用更精准的治疗。 Objective To investigate the clinicopathological characteristics and genetic mutations of SMARCA4-deficient lung adenocarcinoma. Methods From January 2021 to April 2023 in the First Affiliated Hospital of Zhengzhou University, 42 cases of SMARCA4-deficienct lung adenocarcinoma were diagnosed and now analyzed. All cases were retrospectively studied using hematoxylin-eosin staining and immunohistochemistry. The clinicopathological features were reviewed. Next-generation sequencing (NGS) was performed to investigate the mutations of related genes. Results Among the 42 cases, there were 35 biopsy and 7 surgical specimens. There were 38 males and 4 females. The male to female ratio was 9.5∶1.0, with an age range from 42 to 78 years. Thirty-three patients were smokers. Overall, 4 cases (9.5%), 2 cases (4.7%), 18 cases (42.9%) and 18 cases (42.9%) were at stages Ⅰ, Ⅱ, Ⅲ, and Ⅳ, respectively. Microscopically, all the cases were non-mucinous adenocarcinoma, without lepidic pattern. The morphology was diverse. Rhabdomyoid cells, tumor giant cells and tumor necrosis were present. Most of the tumor cells had eosinophilic cytoplasm and occasionally clear cytoplasm. Defined cell borders and variable cytoplasmic hyaline secretory globules could be found. Inflammatory cells infiltrated the tumor stroma. Immunohistochemistry showed 29 cases (69.0%, 29/42) expressed TTF1, 10 cases (40.0%, 10/25) expressed Napsin A, and 20 cases (100.0%, 20/20) expressed INI1. Forty cases (95.2%, 40/42) showed BRG1 loss in all tumor cells, while 2 cases (4.8%, 2/42) had partial BRG1 loss. PD-L1 (22C3) was positive in 59.2% of the cases (16/27). NGS revealed mutations in EGFR, ROS1, MET, RET and KRAS. Six cases (6/8) showed SMARCA4 mutation, while some cases were accompanied by mutations of TP53 (7/15), STK11 (4/8), and KEAP1 (1/8). Driver gene mutations were more common in women (P<0.05). Patients were followed up for 1-25 months. Four patients died and 20 patients′ diseases progressed. Conclusions SMARCA4-deficient lung adenocarcinoma lacks characteristic morphology. Most of them express TTF1 and harbor driver gene mutations. It is necessary to identify this subset of lung adenocarcinoma by carrying out BRG1 stain routinely on lung adenocarcinoma. These patients can then be identified and benefit from targeted therapies.

    肺肿瘤腺癌DNA突变分析预后SMARCA4缺失

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    浆膜腔积液中SMARCA4缺失胸部未分化肿瘤的细胞病理学特点

    王维娜刘雪婷梁月勉常秀青...
    143-148页
    查看更多>>摘要：目的 探讨浆膜腔积液中SMARCA4缺失胸部未分化肿瘤的细胞病理学特点，及浆膜腔积液细胞学结合免疫组织化学在该肿瘤的诊断价值。 方法 收集河北大学附属医院2018年1月至2023年7月以浆膜腔积液细胞学为首次诊断依据的SMARCA4缺失胸部未分化肿瘤11例的临床及病理学资料，分析浆膜腔积液细胞形态、免疫组织化学特征，并分析患者相应的原发或转移病灶的组织学标本病理特征，对部分病例进行二代测序基因检测。 结果 患者均为男性，年龄54~77岁，中位年龄64岁，9例有长期吸烟史。多伴咳嗽、发憋、胸痛症状，均伴胸腔或心包积液。影像学提示原发部位肺部9例，纵隔1例，肺及胸壁均累及1例。其中3例有外院肺肿瘤手术史，1例有对侧肺腺癌手术史。浆膜腔积液肿瘤细胞大且异型性明显，核质比增大，核大圆形，核仁明显，部分核形不规则，胞质嗜酸性。免疫组织化学SMARCA4/BRG1均失表达，广谱细胞角蛋白、细胞角蛋白7均阴性，SMARCB1/INI1均阳性；7例CD34阳性，4例突触素弱阳性，2例SALL4弱阳性。组织学标本瘤细胞黏附性差，不规则片状或巢状排列，横纹肌样，核分裂象多见，伴肿瘤性坏死。部分肿瘤细胞呈合体细胞样，部分细胞胞质空亮。免疫组织化学表达与浆膜腔积液细胞一致，6例行PD-L1（22C3）检测均阴性。二代测序6例均有SMARCA4移码突变及TP53突变，部分病例检测到STK11、CDKN2A、MET突变及ERBB2扩增，BRCA2部分外显子缺失。随访时间2~24个月，患者均发生不同程度区域淋巴结转移，或肝、肾、肾上腺、颅脑、骨转移，4例死亡，4例经手术根治性切除或射频消融的病例生存时间均超过13个月。 结论 SMARCA4缺失胸部未分化肿瘤恶性程度高，患者预后差，形态有横纹肌样特征。浆膜腔积液细胞诊断困难，选取针对性的免疫组织化学指标可协助诊断。工作中应提高对此病的警惕性，避免漏诊及误诊，以达到早诊断、合理治疗的目的。 Objective To investigate the clinicopathological characteristics of SMARCA4-deficient thoracic undifferentiated tumors, and the diagnostic value of the cells in serous effusion. Methods Eleven cases of SMARCA4-deficient tumor were collected from the Affiliated Hospital of Hebei University, China from January 2018 to July 2023, which were diagnosed using cell block of serous effusion. The clinical, histopathological, immunohistochemical and molecular genetic features were reviewed, along with related literature. Results All the 11 patients were males with ages ranging from 54 to 77 years (median 64 years). Nine patients were smokers and two had an unknown smoking history. Most of them complained of cough and dyspnea with pleural effusion. The primary tumor sites included lung (9 cases), thoracic wall (1 case), and mediastinum (1 case), while 3 patients had a history of lung surgery. Histologically, tumor cells were large and pleomorphic, with increased nuclear-cytoplasmic ratio. They also showed round nuclei, conspicuous nucleoli, and basophilic cytoplasm in serous effusion. Immunohistochemically, tumor cells in all cases were negative for SMARCA4/BRG1, CKpan and CK7, but positive for SMARCB1/INI1. Some of the cases were positive for CD34 (7/11), synaptophysin (4/11) and SALL4 (2/11). Histologically, monotonous tumor cells formed solid sheets or anastomosing islands with poor cell adhesion and rhabdoid morphology. Brisk mitotic figures were accompanied by large areas of necrosis. Some cases focally exhibited syncytia, and some had bright cytoplasm and vesicular chromatin. The immunohistochemical profiles in the tumor tissues were consistent with those of cytology. Six cases were negative for PD-L1 (22c3). Among the 6 cases analyzed by targeted next generation sequencing, concurrent SMARCA4 and TP53 mutations were detected in all 6 cases. Some of the 6 tumors showed mutations of STK11, CDKN2A, and MET, and amplification of ERBB2, exon deletion of BRCA2, etc. Follow-up information was available in all cases and ranged from 2 to 24 months. The patients showed metastases to various sites, including lymph node, liver, kidney, adrenal gland, brain, bone and other sites. Four patients died of the tumor. The survival time of 4 patients who underwent radical resection or radiofrequency ablation was more than 13 months. Conclusions SMARCA4-deficient thoracic sarcoma is a rare but highly aggressive tumor with dismal prognosis and rhabdomyoid features. It is difficult to diagnose this disease using only serous effusion samples. This tumor thus warrants careful consideration. Accurate diagnosis can greatly improve early diagnosis and treatment of these tumors.

    胸部肿瘤细胞诊断学胸腔积液预后SMARCA4缺失

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    MYB/NFIB基因融合与头颈腺样囊性癌分级和预后相关性及检测方法一致性研究

    朱玥璐李研穆嘉莉刘文超...
    149-154页
    查看更多>>摘要：目的 探讨头颈腺样囊性癌（ACC）的MYB/NFIB基因融合与病理分级、预后等临床病理指标的关系，并评估荧光原位杂交（FISH）检测与MYB及NFIB免疫组织化学的一致性。 方法 收集2014年4月至2020年1月中国医学科学院 北京协和医学院肿瘤医院诊断的48例头颈ACC病例和15例非ACC涎腺肿瘤，进行MYB/NFIB基因融合FISH检测；将头颈ACC依据病理分级标准划分为Ⅰ~Ⅱ级、Ⅲ级和高级别转化；对FISH检测结果和其他临床病理指标进行预后和相关性分析。对48例头颈ACC和15例非ACC涎腺肿瘤进行MYB和NFIB免疫组织化学检测，对FISH和免疫组织化学诊断ACC的优劣性进行比较。 结果 FISH检测MYB/NFIB融合阳性的ACC占整体ACC的41.7%（20/48）。FISH检测融合阳性率与ACC的病理分级相关（P=0.036），级别越高融合阳性率越低。无进展生存期（PFS）分析中，肿瘤分级越高，预后越差（P=0.024），而FISH检测融合基因状态与PFS无相关性（P=0.536）。15例非ACC涎腺肿瘤病例MYB/NFIB融合基因FISH检测均呈阴性。FISH检测融合基因和MYB免疫组织化学高表达诊断ACC的特异度均为100%，但灵敏度均为41.7%，联合应用FISH检测和MYB免疫组织化学方法诊断ACC的灵敏度可提升至66.7%。 结论 MYB/NFIB融合基因在Ⅲ级和高级别转化ACC中FISH检出率更低，并且与预后无关；FISH检测和MYB免疫组织化学联合使用可提高诊断ACC的灵敏度。 Objective To explore the correlation between MYB/NFIB gene fusion and clinicopathological features such as tumor grade and prognosis of head and neck adenoid cystic carcinoma (ACC), and to assess the concordant rate of fluorescent in situ hybridization (FISH) with MYB and NFIB immunohistochemistry. Methods FISH detection of MYB/NFIB gene fusion was performed on 48 head and neck ACC cases and 15 non-ACC salivary gland tumors at National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China during April 2014 and January 2020. ACC cases were divided into grade Ⅰ-Ⅱ, grade Ⅲ and high-grade transformation, according to pathological grading criteria. Prognosis, FISH results and other clinicopathological characteristics were analyzed. MYB and NFIB immunohistochemistry was performed on the 48 ACC and 15 non-ACC cases. The diagnostic accuracy of FISH and immunohistochemistry was compared. Results FISH detected MYB/NFIB gene fusion in 41.7% (20/48) of the ACC. Its positive rate was inversely correlated with higher pathological grades (P=0.036). The higher histological grade was linked to worse progression-free survival (P=0.024), whereas there was no correlation between the status of gene fusion detected by FISH and progression-free survival (P=0.536). FISH didnot detect MYB/NFIB gene fusion in 15 non-ACC salivary gland tumors The specificity of diagnosing ACC is 100% for both FISH detection of gene fusion and immunohistochemical detection of MYB expression. However, the sensitivity for both methods was only about 41.7%, respectively. By combining FISH and MYB immunohistochemistry, the sensitivity for diagnosing ACC was increased to 66.7%. Conclusions MYB/NFIB gene fusion has a lower detection rate in grade Ⅲ ACC and high-grade transformation ACC. Meanwhile gene fusion status is not correlated with prognosis. The sensitivity for diagnosing ACC can be improved by combining FISH and MYB immunohistochemistry.

    癌,腺样囊性基因融合原位杂交,荧光免疫组织化学MYB/NFIB

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    延胡索酸水合酶缺陷型肾细胞癌中PD-L1表达及其临床病理免疫特征

    陈施班超然张昕婷陈余朋...
    155-161页
    查看更多>>摘要：目的 探讨延胡索酸水合酶（FH）缺陷型肾细胞癌的细胞程序性死亡配体1（PD-L1）的表达情况、临床病理特征、免疫组织化学表达及分子特征，探寻免疫治疗在FH缺陷型肾细胞癌中的应用前景。 方法 对福建医科大学附属第一医院2020年1月至2022年10月收集的6例FH缺陷型肾细胞癌的PD-L1表达情况、临床资料、组织学形态、免疫表型、二代测序基因检测进行总结并随访预后。 结果 患者均为男性，年龄37~72岁，平均年龄45.7岁。4例高级别FH缺陷型肾细胞癌病例均可见2种或2种以上的结构混杂存在，以乳头状结构最常见，还可见到腺管状、腺泡状、筛状、巢团状、囊性变、实性结构混杂存在，癌细胞WHO/国际泌尿病理协会（ISUP）核分级为3~4级。2例低级别FH缺陷型肾细胞癌病例表现为巢团状、腺管状排列，嗜酸性、絮状胞质及小的胞质内空泡。6例2-琥珀酸半胱氨酸（2SC）均为强阳性，5例FH表达丢失、GATA3阳性，4例高级别病例肿瘤浸润的CD4、CD8阳性的T淋巴细胞平均值分别是180.3/mm2、130.5/mm2，PD-L1联合阳性评分（CPS）分别是20、50、5、30，Ki-67阳性指数分别为20%、20%、10%、30%；2例低级别病例肿瘤浸润的CD4、CD8阳性的T淋巴细胞平均值分别是123.0/mm2、100.5/mm2，PD-L1 CPS评分均为1，Ki-67阳性指数均为3%。高通量测序3例检测到FH基因体系突变，2例检测到FH基因胚系突变，1例未测出FH基因突变。 结论 FH缺陷型肾细胞癌以高级别形态常见，低级别形态少见。FH和2SC是诊断FH缺陷型肾细胞癌特征性的免疫组织化学标志物，GATA3阳性对诊断具有提示作用。高级别FH缺陷型肾细胞癌肿瘤浸润的CD4、CD8阳性的T淋巴细胞增加，PD-L1高表达，抗PD-L1免疫治疗将可作为患者的治疗选择。 Objective To investigate the expression of programmed cell death ligand 1 (PD-L1), clinicopathologic features, immunohistochemical expression and molecular characteristics in fumarate hydratase (FH)-deficient renal cell carcinoma and to explore the potential application of immunotherapy in the patients. Methods There were six patients with FH-deficient renal cell carcinoma treated at the First Affiliated Hospital of Fujian Medical University between January 2020 and October 2022. The clinical data, histological morphology, immunophenotype, PD-L1 expression and next-generation sequencing results were tabulated and analyzed. Results There were 6 patients, all male, age ranged from 37 to 72 years (mean 45.7 years). Four cases were high-grade (WHO/ISUP grade3-4) with 2 or more histologic patterns, including papillary (most common), glandular, tubular, vesicular, ethmoid, nest-like, cystic and solid structures. Two cases were low-grade which showed nest-like, glandular, or tubular arrangement with eosinophilic flocculent cytoplasm and small intracellular vacuoles. Immunohistochemical analysis revealed strong expression of 2SC in all 6 cases, negative expression of FH in 5 cases, and positive expression of GATA3 in 5 cases. In high-grade cases, the mean values of CD4 and CD8 positive T-lymphocytes in advanced tumor invasion were 180.3/mm2 and 130.5/mm2, respectively. PD-L1 combined positive scores (CPS) were 20, 50, 5 and 30, respectively. The Ki-67 proliferative index were 20%, 20%, 10% and 30%, respectively. In low-grade cases, the mean values of CD4 and CD8 positive T-lymphocytes were 123.0/mm2 and 100.5/mm2, respectively. The PD-L1 CPS score was 1, and the Ki-67 proliferation index was 3%. High-throughput sequencing showed FH gene somatic mutation in 3 cases, FH gene germline mutation in 2 cases, and FH gene mutation was not detected in one case. Conclusion FH-deficient renal cell carcinoma is more commonly high-grade than low grade. FH and 2SC are immunohistochemical markers used in the diagnosis of FH-deficient renal cell carcinoma, and GATA3 positivity is supportive of the diagnosis. The tumor infiltration of high-grade FH-deficient renal cell carcinoma shows an increase in CD4 and CD8 positive T-lymphocytes, and high expression of PD-L1 thus, anti-PD-L1 immunotherapy can be used as a treatment option.

    延胡索酸水合酶癌,肾细胞GATA3转录因子程序性死亡配体1

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    性发育异常患者性腺分化临床病理学分析

    金华刘振华丁怡鑫李琳...
    162-167页
    查看更多>>摘要：目的 探讨性发育异常患者性腺的病理形态学特点及其鉴别诊断。 方法 收集解放军总医院第七医学中心2007年4月至2021年7月临床诊断为两性畸形且在本院病理科有性腺活检的病例，复阅全部活检病理切片，从中筛选出性腺病理形态学异常的病例。分析其临床和影像学资料及核型等，补充免疫组织化学检查并复习相关文献。 结果 镜下观察筛选出卵睾型性发育异常7例，病理特征是同一个体同时有卵巢和睾丸分化；患者年龄均小于15岁，社会性别男女比例为2∶5；临床表现均为外生殖器外观异常；B超检查发现女性患儿均有睾丸样物，男性患儿均有隐睾；46，XX核型最多。筛选出未分化性腺组织及条索状性腺各1例。未分化性腺组织生殖细胞既不在曲细精管中也不在卵泡中，而是随机分布在卵巢型间质背景中，有时伴有未成熟的性索。条索状性腺类似于无生殖细胞的未分化性腺组织。免疫组织化学FOXL2在粒层细胞阳性表达，支持细胞阴性；SOX9表达与之相反；OCT4在卵母细胞弱阳性/阴性表达，在未分化性腺组织中生殖细胞核阳性表达。 结论 性腺活检需明确4种分化模式：卵巢分化、睾丸分化、未分化性腺组织及条索状性腺。SOX9阳性提示睾丸分化，FOXL2阳性证实卵巢分化，同一组织内两者都有表达则是卵睾分化。鉴别出未分化性腺组织非常重要，因未分化性腺组织将来发展为性腺母细胞瘤概率高。 Objective To investigate pathological features and differential diagnosis in the gonads with disorder of sex development. Methods Thirty-six cases of clinically diagnosed hermaphroditism with gonadal biopsy in the Department of Pathology, the Seventh Medical Center of People′s Liberation Army General Hospital from April 2007 to July 2021, were collected. All biopsy pathological sections were reviewed, and the gonadal cases with abnormal pathological morphology were screened out. The clinical and imaging data and karyotype of these cases were reviewed. Additional immunohistochemical staining was performed and relevant literature was reviewed. Results Seven cases of ovotesticular disorder of sex development (OTDSD) were identified, which were characterized by the presence of testicular and ovarian differentiation in the same individual. All patients were under 15 years old and presented with abnormal appearance of external genitalia, and the ratio of male to female was 2∶5. Ultrasonography showed testicular structure in all female patients and cryptorchidism in all male patients. The most common karyotype was 46, XX. One case with undifferentiated gonadal tissue (UGT) and one case with streak gonads were screened out. UGT germ cells were neither in seminiferous tubules nor in follicles, but randomly distributed in an ovarial-type interstitial background, sometimes accompanied by immature sex cords. Streak gonads resembled UGT without germ cells. FOXL2 was positive in granulosa cells, but negative in Sertoli cells. SOX9 expression was opposite. OCT4 was weakly positively/negatively expressed in oocytes and positively expressed in the germ nuclei of UGT. Conclusions Four differentiation patterns need to be identified in the gonadal biopsy: ovarian differentiation, testicular differentiation, undifferentiated gonadal tissue and streak gonad. The positive expression of SOX9 indicates testicular differentiation, while the positive expression of FOXL2 confirms ovarian differentiation, and the expression of both markers in the same tissue indicates ovotestis differentiation. It is very important to identify UGT, because that has a high probability of developing into gonadoblastoma in the future.

    染色体免疫组织化学卵睾型性发育异常

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    具有黏液样变的高分化/去分化脂肪肉瘤34例临床病理及分子遗传学特征分析

    薛霜刘秋雨缑向楠赵跃武...
    168-173页
    查看更多>>摘要：目的 探讨具有黏液样变的高分化/去分化脂肪肉瘤临床病理及分子遗传学特征，并与具有相似形态的黏液纤维肉瘤相鉴别。 方法 收集河南省人民医院及解放军总医院第一医学中心2015年1月至2023年3月确诊黏液样变脂肪肉瘤29例、黏液纤维肉瘤5例，采用免疫组织化学、荧光原位杂交（FISH）检测相关指标情况，并复习文献。 结果 34例患者中男性24例，女性10例，年龄41~73岁；发病部位包括腹膜后（17例）、腹腔（9例）、下肢（5例）、阴囊（1例）、上肢（1例）和腋下（1例）。高分化脂肪肉瘤以脂肪瘤样型多见（12例）；去分化脂肪肉瘤的去分化成分包括低级别（13例）和高级别（2例）形态，呈低至高级别黏液纤维肉瘤样、隆突性皮肤纤维肉瘤样、低级别纤维肉瘤结构。29例脂肪肉瘤均具有不同比例的黏液样形态，16例伴多少不等肿瘤性坏死。黏液样形态表现为黏液样脂肪肉瘤样，呈分叶状生长，特征性的纤细、分支状毛细血管网，类似于鸡爪样形态，富含黏液的间质和肺水肿样形态，肿瘤细胞呈梭形及卵圆形，伴多少不等多空泡状脂肪母细胞。FISH法检测MDM2基因显示成簇扩增（29/29），DDIT3分离探针均未发生断裂，但显示成簇扩增（24/29）；黏液纤维肉瘤中1例存在DDIT3分离探针簇状扩增（1/5），无基因断裂，且MDM2基因无扩增。 结论 具有黏液样变的高分化/去分化脂肪肉瘤以腹膜后和腹腔最为多见，大多呈DDIT3分离探针扩增，但该扩增现象并非脂肪肉瘤特异性表现。对于穿刺标本或极少数发生在四肢的肿瘤，当组织学具有黏液间质、黏液样脂肪肉瘤样形态时，应避免误诊为黏液样脂肪肉瘤或其他具有黏液样形态的非脂肪源性肿瘤。 Objective To investigate the clinicopathological and molecular genetic characteristics of well-differentiated/dedifferentiated liposarcoma (WDLPS/DDLPS) with myxoid-like morphology, and to distinguish them from myxofibrosarcoma (MFS) with similar morphology. Methods Twenty-nine cases of myxoid-like liposarcoma and 5 cases of MFS were collected from Henan Provincial People′s Hospital, Zhengzhou, China and the First Medical Center of PLA General Hospital, Beijing, China from January 2015 to March 2023. Relevant markers were detected using immunohistochemistry and fluorescence in situ hybridization (FISH). The literature was also reviewed. Results There were 24 males and 10 females, with ages ranging from 41 to 73 years. The tumor sites included retroperitoneum (n=17), abdomen (n=9), lower limbs (n=5), scrotum (n=1), upper limb (n=1) and axilla (n=1). WDLPS was commonly seen as lipomatoid type (12 cases), while the dedifferentiated components of DDLPS included low-grade (13 cases) and high-grade (2 cases) morphology, with low-high grade myxofibrosarcoma, dermatofibrosarcoma protuberans, and low-grade fibrosarcoma structures. Twenty-nine liposarcomas had various proportions of myxoid-like morphology, while 16 showed various degrees of tumor necrosis. The myxoid-like component showed myxoid pleomorphic liposarcoma (MLPS)-like morphology, lobulated growth, characteristic slender, ramified capillary network,"chicken claw-like"morphology, mucus-rich stroma and lung edema-like morphology. Tumor cells were spindle and oval, with many variable vacuolar lipoblasts. MDM2 gene amplification was detected using FISH and present in all tested cases (29/29). DDIT3 break-apart mutation was not detected, but its cluster amplification was present (24/29). Among the MFS cases, one showed cluster amplification (1/5), but no cases showed break-apart or amplification of MDM2 gene. Conclusions WDLPS/DDLPS with myxoid-like morphology is most commonly seen in the retroperitoneum and abdominal cavity and mostly harbors DDIT3 break-apart probe amplification, while this amplification is not specific to liposarcoma. For core biopsy specimens or very rare tumors in the limbs, when histology has mucinous stroma and MLPS-like morphology, misdiagnosis of MLPS or other non-lipomatous neoplasms with myxoid morphology should be avoided.

    软组织肿瘤脂肪肉瘤,黏液样基因扩增

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