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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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    从ISSVA分类浅谈脉管源性疾病的病理诊断问题

    刘秋雨孔令非于雅丽
    217-223页
    查看更多>>摘要：脉管源性疾病的诊断不只是肿瘤与非肿瘤性病变的区分，更多的是以强调其疾病的本质为出发点，即有无内皮细胞增殖，进一步区分为真性肿瘤和畸形。本文以临床广泛推崇的国际脉管异常研究学会（The International Society for the Study of Vascular Anomalies，ISSVA）分类为基础，针对脉管源性疾病的相关病理诊断问题展开论述。 The diagnosis of vascular diseases is not only about distinguishing neoplastic or non-neoplastic lesions, but also focusing more on emphasizing the essence of the disease, namely the presence or absence of endothelial cell proliferation, and further to distinguishing true hemangioma tumors or vascular malformation. This article is based on the International Society for the Study of Vascular Anomalies (ISSVA) classification, which is widely used in clinical practice, and discusses the related pathological diagnosis issues of vascular diseases.

    软组织肿瘤国际疾病分类法脉管畸形

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    第5版WHO儿童肿瘤分类遗传性肿瘤综合征解读（二）

    方园何乐健陈莲王世贤...
    224-229页
    查看更多>>摘要：WHO首次出版了儿童肿瘤分类，遗传性肿瘤综合征作为其独立章节被介绍，内容涵盖儿童常见各种肿瘤易感综合征的临床病理特征、分子遗传学改变以及诊断标准等。本文结合相关文献，对其中儿童好发的5种热点综合征（神经纤维瘤病1型、痣样基底细胞癌综合征、von Hippel-Lindau综合征、家族性腺瘤性息肉病和着色性干皮病）做简要介绍和解读，以使临床及病理医师对儿童肿瘤易感综合征有更多认识和了解。 WHO firstly published the classification of paediatric tumours, in which genetic tumour syndromes were introduced as a separate chapter, covering the clinicopathological features, molecular genetic alterations, and diagnostic criteria of various tumor susceptibility syndromes common in children. This article briefly introduces and interprets 5 hotspot genetic tumour syndromes (neurofibromatosis type 1, naevoid basal cell carcinoma syndrome, von Hippel-Lindau syndrome, familial adenomatous polyposis and xeroderma pigmentosum) based on relevant literature, in order to bring new perspectives and insights to pathologists and clinicians.

    世界卫生组织儿科肿瘤遗传综合征

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    浅表软组织普通淋巴管畸形临床病理及遗传学特征分析

    刘秋雨李春晓刘大看薛霜...
    230-236页
    查看更多>>摘要：目的 探讨发生于浅表软组织的单纯性普通淋巴管畸形（common lymphatic malformation，CLM）临床病理学特征、分型和遗传学特征，以及分型与上述特征间的相关性。 方法 回顾性收集河南省人民医院2019年8月至2022年8月手术切除CLM病例110例，分析临床及病理学信息，并行相关免疫组织化学染色及PIK3CA基因荧光定量PCR检测，随访患者。 结果 110例患者中男性53例，女性57例，65例（65/110，59.1%）为≤2岁时首次发现，常见于头颈部（41/110，37.3%），102例（102/110，92.7%）为单灶，83例（83/110，75.5%）为肤色肿块，69例（69/110，62.7%）边界不清，10例（10/110，9.1%）为弥漫性大面积重症表现。CLM的分型中，巨囊型52例（52/110，47.3%），微囊型23例（23/110，20.9%），混合型35例（35/110，31.8%）。巨囊型CLM大体上表现为柔软半透明肿块，切面可见大囊腔；镜下由大的不规则扩张管壁组成，管壁较厚，常有不规则平滑肌及淋巴细胞浸润。微囊型CLM大体上表现为皮肤表面疣状突起或半透明水泡，切面多呈细小蜂窝状结构；镜下由圆形或成角的扩张小淋巴管组成，管壁少或无平滑肌。混合型兼具巨囊型和微囊型的形态学表现。免疫组织化学染色显示淋巴管内皮细胞呈LYVE-1、D2-40、PROX1、CD31、VEGFR3阳性，CD34阴性；巨囊型及局灶混合型淋巴管壁呈平滑肌肌动蛋白阳性。13例CLM中8例存在PIK3CA基因点突变。所有患者获随访，24例（24/110，21.8%）术后复发，其多见于混合型，其次为微囊型。 结论 CLM是异常淋巴管扩张形成的先天性脉管畸形，存在PIK3CA基因突变；不同分型间临床病理学表现存在差异，鉴于微囊型和混合型较易复发，病理诊断应尽可能给予精准分型以指导疾病治疗和预后判断。 Objective To investigate the clinicopathological features, classification, and genetic characteristics of common lymphatic malformation (CLM) in superficial soft tissue. Methods A retrospective study of 110 patients with the diagnosis of CLM at the Henan Province People′s Hospital, China from August 2019 to August 2022 was performed. The clinicopathological features, relevant immunohistochemical (IHC) staining results, and fluorescence quantitative PCR of PIK3CA mutation were analyzed, and patients were followed up. Results Among the 110 CLM patients, there were 53 males and 57 females 65 cases (65/110, 59.1%) were first detected when the patients were≤2 years old. The most common location was the head and neck in 41 cases (41/110, 37.3%). Clinically, 102 cases (102/110, 92.7%) were solitary, 83 cases (83/110, 75.5%) were skin-colored, 69 cases (69/110, 62.7%) had indistinct borders, and 10 cases (10/110, 9.1%) had diffuse and severe macroscopic manifestations. There were 52 macrocystic type (52/110, 47.3%), 23 microcystic type (23/110, 20.9%), and 35 combined type (35/110, 31.8%). The macrocystic CLM presented as soft, translucent masses with large cystic cavities on the cut surface, and histologically they were composed of large, irregularly dilated channels that were thicker with irregular smooth muscle and lymphocytic infiltration. Microcystic CLM showed wartlike projections or translucent blisters on the skin, with small honeycomb structures on the cut surface, and histologically consisted of round or angular dilated small lymphatic vessels with little or no smooth muscle. The combined CLM had both macrocystic and microcystic morphologies. IHC staining showed that the lymphatic endothelial cells were positive for LYVE-1, D2-40, PROX1, CD31, and VEGFR3 but negative for CD34 in the macrocystic and combined CLM vessel walls were positive for SMA. Eight of 13 CLM had PIK3CA mutation. All patients were followed up, and 24 (24/110, 21.8%) had relapses, which more frequently occurred in combined type, followed by microcystic type. Conclusions CLM is a congenital vascular malformation composed of dilated, abnormal lymphatic channels, with PIK3CA mutation. There are significant differences in clinicopathological characteristics among the different types. Since microcystic and combined CLM are prone to recurrence, accurate pathological subtyping is necessary to guide treatment and to predict prognosis.

    淋巴管畸形淋巴管瘤基因

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    检测MDM2扩增辅助诊断低级别骨肉瘤的价值及判读标准探讨

    李兰张铭董荣芳苏永彬...
    237-242页
    查看更多>>摘要：目的 探讨应用荧光原位杂交（FISH）检测MDM2扩增辅助诊断低级别骨肉瘤（low-grade osteosarcoma，LGOS）的价值及判读标准。 方法 收集北京积水潭医院病理科2009年4月1日至2022年8月10日应用FISH检测MDM2扩增辅助诊断骨肉瘤的病例，以骨旁骨肉瘤（parosteal osteosarcoma，POS）30例、低级别中心性骨肉瘤（low-grade central osteosarcoma，LGCOS）14例为病例组，以其他骨病变58例（包括纤维结构不良28例，骨巨细胞瘤5例，普通型骨肉瘤4例，骨膜骨肉瘤2例，骨折后修复性改变2例，多形性未分化肉瘤2例，低度恶性肌纤维母细胞肉瘤2例，纤维结构不良恶变2例，平滑肌肉瘤1例，硬化性上皮样纤维肉瘤1例，恶性外周神经鞘瘤1例，骨的促结缔组织增生性纤维瘤1例，孤立性纤维性肿瘤1例，动脉瘤样骨囊肿1例，透明细胞软骨肉瘤1例，骨性纤维结构不良1例，梭形细胞肿瘤未分类3例）为对照组，分析应用FISH检测MDM2扩增对于辅助诊断LGOS的价值并结合文献探讨判读标准。 结果 组织学诊断为POS的病例30例，男性15例，女性15例；年龄10~59岁，平均年龄35岁，中位年龄30.5岁。除1例检测失败外，27例（27/29，91.3%）FISH检测MDM2扩增结果为阳性。组织学诊断为LGCOS的病例14例，男性4例，女性10例；年龄15~56岁，平均年龄37岁，中位年龄36岁。8例（8/14）FISH检测MDM2扩增结果为阳性。对照组58例，FISH检测MDM2扩增结果均为阴性。MDM2扩增率在POS组、LGCOS组与对照组相比差异均有统计学意义（均P<0.05）。FISH检测MDM2扩增诊断POS的灵敏度和特异度分别为93.1%和100.0%，诊断LGCOS的灵敏度和特异度分别为57.1%和100.0%，诊断LGOS（POS与LGCOS）的灵敏度和特异度为81.3%和100.0%。在MDM2扩增阳性病例中，MDM2扩增信号均呈簇状。9例（9/35，25.7%；6例POS和3例LGCOS）可见不同于多倍体的CEP12信号增多，表现为增加的小的、微弱的信号点或呈云絮状、团簇状的信号。 结论 FISH检测MDM2扩增对LGOS有较高的诊断价值，FISH检测MDM2扩增的判读标准目前尚不统一，结果判断时要关注信号特点，部分病例中可见CEP12信号增多。 Objective To investigate the diagnostic value of detecting MDM2 gene amplification by fluorescence in situ hybridization (FISH) in low-grade osteosarcoma (LGOS). Methods Thirty cases of parosteal osteosarcoma (POS) and 14 cases of low-grade central osteosarcoma (LGCOS) from April 2009 to August 2022 at Beijing Jishuitan Hospital, Capital Medical University were analyzed for the presence of MDM2 gene amplification by FISH. Fifty-eight additional cases were used as negative controls (including 28 cases of fibrous dysplasia, 5 cases of giant cell tumor, 4 cases of conventional osteosarcoma, 2 cases each of periosteal osteosarcoma, reparative changes after fracture, pleomorphic undifferentiated sarcoma, low grade myofibroblastic sarcoma, fibrous dysplasia with malignant transformation, one case each of leiomyosarcoma, sclerosing epithelioid fibrosarcoma, malignant peripheral nerve sheath tumor, desmoplastic fibroma of bone, solitary fibrous tumor, aneurysmal bone cyst, clear cell chondrosarcoma, osteofibrous dysplasia, and 3 cases of unclassified spindle cell tumor). Results Among the 30 patients with POS, 15 were male and 15 were female, ranging in age from 10 to 59 years (mean 35 years, median 30.5 years). Among the 14 patients with LGCOS, four were male and 10 were female, ranging in age from 15 to 56 years (mean 37 years, median 36 years). All except one case were successfully detected by FISH. MDM2 gene amplification was detected in 27 cases of POS (27/29,91.3%) and 8 cases of LGCOS (8/14). All the negative controls were negative for MDM2 gene amplification. The positive rate of MDM2 gene amplification was significantly different between the case group and the control group (P<0.05). The sensitivity and specificity of MDM2 gene amplification in diagnosing POS and LGCOS were 91.3% and 100.0% and 57.1% and 100.0%, respectively. The sensitivity and specificity of MDM2 gene amplification in diagnosing LGOS (including POS and LGCOS) were 81.3% and 100.0%, respectively. In cases where MDM2 gene was amplified, the MDM2 amplified signal was clustered. Nine cases showed increased CEP12 signal different from polyploidy which was displayed as small and weak signal points or cloud flocculent and cluster signals. Conclusions Detection of MDM2 gene amplification by FISH is a highly sensitive and specific marker for LGOS. The interpretation criteria for FISH detection of MDM2 amplification are currently not unified. The signal characteristics need more attention when interpreting.

    骨肿瘤骨肉瘤原位杂交,荧光基因扩增

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    单纯性骨囊肿临床影像病理与分子特征分析

    杨旭西盛少洁邹月芬朱岩...
    243-249页
    查看更多>>摘要：目的 探讨单纯性骨囊肿（simple bone cyst，SBC）的临床影像学、病理形态学、分子遗传学特点、诊断及鉴别诊断。 方法 收集南京医科大学第一附属医院病理学部2017—2022年诊断为SBC的病例14例，行荧光原位杂交（FISH），回顾性分析影像学、病理学及分子遗传学特征。 结果 14例SBC中，男性7例，女性7例，年龄7~45岁（中位年龄29岁）。临床表现以局限性疼痛最为常见，其中4例伴有病理性骨折，5例伴有既往创伤史。最大径3.4~13.5 cm（中位5.6 cm），累及肱骨（5例）、髂骨（5例）、股骨（4例）。影像学诊断有SBC、动脉瘤性骨囊肿、骨巨细胞瘤、骨巨细胞瘤合并动脉瘤性骨囊肿样区域，以及纤维结构不良。形态学上，低倍镜下囊壁由纤维结缔组织构成，可以见到纤维蛋白样沉积物，部分有骨样基质及编织骨的形成。高倍镜下，囊壁可见呈胖梭形、卵圆形病变细胞，散在的破骨样巨细胞，堆积的泡沫样组织细胞，含铁血黄素的沉积以及胆固醇裂隙，6例可见类似结节性筋膜炎样的形态。免疫表型上，囊壁内衬细胞可见平滑肌肌动蛋白、上皮细胞膜抗原、SATB2不同程度的表达。14例均行FISH检测，发现9例涉及FUS或ESRW1基因的重排，其中1例行二代测序发现FUS：：NFATC2融合。9例发生重排的SBC细胞密度略高，其中FUS：：NFATC2融合患者复发标本可见核分裂象。14例随访5~105个月（平均46个月），其中FUS：：NFATC2重排患者术后2次局部复发，第2次复发后行瘤段切除术34个月未复发，其余13例均无复发。 结论 SBC中有很大一部分存在EWSR1或FUS的重排，提示SBC可能是一个肿瘤性疾病。当影像学和形态学特征对于鉴别诊断SBC和动脉瘤性骨囊肿困难时，可结合FISH检测辅助鉴别。 Objective To investigate the radiologic, pathologic, and molecular features of simple bone cysts (SBC), and their differential diagnoses. Methods Fourteen cases of SBC were collected at the Department of Pathology, the First Affiliated Hospital of Nanjing Medical University from 2017 to 2022, and fluorescence in situ hybridization (FISH) was performed for retrospective analysis. Results There were 14 patients, including 7 females and 7 males, with age range of 7 to 45 (median 29) years. The most common complaint was pain, including 4 cases with pathological fracture and 5 with history of previous trauma. The tumor size ranged from 3.4 to 13.5 (median 5.6) cm. The lesion involved the femur (n=4), humerus (n=5) and iliac bone (n=5). Radiologic diagnoses included SBC, aneurysmal bone cyst, and giant cell tumor of the bone or its combination with aneurysmal bone cyst-like region and fibrous dysplasia. Histologically, the cyst walls of the lesions were composed of fibrous tissue, fibrin-like collagen deposits, bone-like matrix and occasional woven bone. The lesional cells were spindled to ovoid, with scattered osteoclast-like giant cells, foamy histiocytes, hemosiderin deposits and cholesterol clefts. In 6 cases there were nodular fasciitis-like areas. Immunohistochemically, the spindled to ovoid cells were positive for SMA, EMA and SATB2 in varying degrees. FISH detection was performed in all 14 cases and EWSR1/FUS rearrangement were found in 9 cases. One case of FUS::NFATC2 fusion was detected by next-generation sequencing. Nine cases of SBC with the rearrangement were more cellular, and there were more mitotic figures in the recurrent FUS::NFATC2 fusion tumor. Clinical follow-up was obtained in all 14 cases with the time ranging from 5 to 105 (mean 46) months. Amongst them, the tumor with FUS::NFATC2 rearrangement had local recurrence twice after the first local excision, but had no more recurrence or metastasis 34 months after the subsequent segmental resection. The other 13 cases had no recurrence. Conclusions EWSR1 or FUS rearrangement is most commonly identified in SBC, suggesting that SBC might be a neoplastic disease. In cases where the radiologic appearance and histomorphology are difficult to differentiate from aneurysmal bone cyst, FISH detection can aid in the definitive diagnosis.

    骨肿瘤骨囊肿原位杂交,荧光

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    唾液腺导管内癌27例临床病理学特征及分子遗传学分析

    孙祺孙晶晶王敏张雷...
    250-256页
    查看更多>>摘要：目的 探讨唾液腺导管内癌（intraductal carcinoma）的临床病理学特征、分子遗传学特点及鉴别诊断。 方法 收集2008年1月至2023年7月上海交通大学医学院附属第九人民医院口腔病理科25例、河南省人民医院病理科2例诊断为导管内癌的病例，回顾性分析其临床病理学特征，行荧光原位杂交及一代测序检测分子改变，随访患者并复习相关文献。 结果 27例导管内癌患者，男性15例，女性12例，年龄20.0~80.0岁（平均55.9岁）。临床上多表现为无痛性肿块，肿瘤最大径1.0~3.0 cm（平均2.0 cm）。所有患者均接受手术治疗，20例患者获得随访，其中1例因肺癌死亡，余均存活、无复发。组织学上，闰管型占63.0%（17/27），顶浆分泌型占25.9%（7/27），嗜酸细胞型占7.4%（2/27），混合型占3.7%（1/27）。闰管型S-100蛋白阳性，雄激素受体（AR）阴性，Ki-67阳性指数较低（1%~5%），9例检测到RET基因断裂，2例检测到BRAF V600E突变。顶浆分泌型S-100蛋白阴性，AR阳性，Ki-67阳性指数较高（10%~60%），1例检测到RET基因断裂。2例嗜酸细胞型与闰管型免疫表型相似，均检测到RET基因断裂。1例混合型表现为嗜酸细胞型与顶浆分泌型混合，检测到RET基因断裂阳性。 结论 导管内癌是一种少见的唾液腺低度恶性肿瘤，镜下形态结构多样，容易与形态相似的其他唾液腺肿瘤混淆，分子检测对鉴别诊断有帮助。 Objective To investigate the clinicopathological features, molecular genetic features, and differential diagnosis of intraductal carcinomas (IDC) of the salivary glands. Methods Twenty-five cases of salivary gland IDC diagnosed at the Department of Oral Pathology, Shanghai Ninth People′s Hospital and two cases from Department of Pathology, Henan Provincial People′s Hospital, Zhengzhou, China from January 2008 to July 2023 were collected. Their clinical and pathological features were analyzed retrospectively. Fluorescence in situ hybridization and Sanger sequencing were performed. The patients were followed up and related literatures were reviewed. Results There were 27 patients with IDC, including 15 males and 12 females, ranging in age from 20.0 to 80.0 years (mean 55.9 years). Clinically, the tumor often presented as a painless mass with a tumor diameter of 1.0-3.0 cm (mean 2.0 cm). All patients received surgical treatment. Twenty patients were followed up. One of them (1/20) died of lung cancer, while the rest survived without tumor recurrence. Histologically, IDC were classified as: intercalated (63.0%, 17/27), apocrine (25.9%, 7/27), oncocytic (7.4%, 2/27) and mixed (3.7%, 1/27) types. Intercalated tumors showed positive S-100 and negative androgen receptor (AR) immunoreactivity. Ki-67 proliferation index was low (about 1%-5%). Nine cases had the RET gene disruption, and 2 cases showed the BRAF V600E mutation. Apocrine tumors showed strong AR immunoreactivity but no S-100 immunoreactivity. Ki-67 proliferation index was high (about 10%-60%), and the RET gene rupture was detected in 1 case. Oncocytic tumors were similar to that of intercalated type in 2 cases, and RET gene disruption was detected in the both cases. Mixed tumors showed histologic features of oncocytic and apocrine patterns and harbored the RET gene disruption. Conclusions IDC is a rare low-grade malignant tumor of the salivary gland and easily confused with other salivary gland tumors with similar morphology. Molecular testing is helpful for its differential diagnosis.

    涎腺肿瘤分子生物学基因重排

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    肾母细胞瘤1p/16q杂合性缺失和1q获得与临床病理特征及预后的关系

    贾超姚兴凤张朦管晓星...
    257-263页
    查看更多>>摘要：目的 探讨肾母细胞瘤1p/16q杂合性缺失（loss of heterozygosity，LOH）、1q获得与临床病理特征及预后的关系。 方法 回顾性分析2019年9月至2022年8月北京儿童医院病理科接收的肾母细胞瘤样本共175例。经由2名病理医师明确组织学分型和淋巴结受累情况。查阅临床资料，对儿童性别、年龄、肿瘤部位、手术前化疗情况及临床分期进行汇总分析。采用病历查询和电话方式进行随访，了解患儿预后情况。荧光原位杂交法（fluorescence in situ hybridization，FISH）检测肿瘤1p/16q杂合性缺失、1q获得情况，并探究其异常与临床病理特征及预后的关系。 结果 175例样本中，男性86例（49.1%），女性89（50.9%）。平均年龄（3.5±2.9）岁，中位年龄为2.6岁。1p缺失26例（14.9%），16q缺失28例（16.0%），1p、16q共缺失10例（5.7%）；1q获得53例（30.3%）。1q获得与1p缺失（P<0.001）及16q缺失（P<0.01）显著相关。在不同年龄组患儿中，1q获得、1p缺失及16q缺失率差异均有统计学意义（P<0.01）。高危病理组织学类型16q缺失率（50.0%）显著高于中危型（13.6%，P<0.05）。临床分期晚期（Ⅲ、Ⅳ）患儿1q获得、1p缺失及16q缺失率均显著高于临床分期早期（Ⅰ、Ⅱ）患儿（P<0.01）。1q获得、1p缺失及16q缺失异常与性别、单双侧发病、是否化疗、淋巴结是否转移无显著相关性。1q获得、1p缺失肾母细胞瘤患儿的无进展生存时间（progress-free survival，PFS）较1q、1p正常患儿显著缩短（P<0.05），16q缺失患儿的无进展生存时间略短于16q正常患儿，但差异无统计学意义。在晚期肾母细胞瘤患儿中，伴随1q获得、1p缺失具有相对更高的复发转移死亡相对危险度。 结论 肾母细胞瘤1p/16q杂合性缺失、1q获得情况与年龄、高危病理组织学类型及临床分期相关。1q获得、1p缺失与肾母细胞瘤患儿预后显著相关。 Objective To investigate the relationship between 1p/16q loss of heterozygosity (LOH) and 1p gain in Wilms tumor and their clinicopathologic characteristics and prognosis. Methods A total of 175 Wilms tumor samples received from the Department of Pathology, Beijing Children′s Hospital from September 2019 to August 2022 were retrospectively analyzed. The histopathologic type and presence of lymph node involvement were evaluated by two pathologists. The clinical data including patients′gender, age, tumor location, preoperative chemotherapy, and tumor stage were summarized. Fluorescence in situ hybridization (FISH) was done to detect 1p/16q LOH and 1p gain and their correlation with the clinicopathological features and prognosis were analyzed. Results Among the 175 samples, 86 cases (49.1%) were male and 89 (50.9%) were female. The mean age was (3.5±2.9) years, and the median age was 2.6 years. There were 26 (14.9%) cases with 1p LOH, 28 (16.0%) cases with 16q LOH, 10 (5.7%) cases of LOH at both 1p and 16q, and 53 (30.3%) cases with 1q gain. 1q gain was significantly associated with 1p LOH (P<0.01) and 16q LOH (P<0.01). There were significant differences (P<0.01) between 1q gain, 1p LOH and 16q LOH among different age groups. The rate of 16q LOH in the high-risk histopathological subtype (50.0%) was significantly higher than that in the intermediate-risk subtype (13.6%,P<0.05). The frequency of 1q gain, 1p LOH, and 16q LOH in children with advanced clinical stages (Ⅲ and Ⅳ) was significantly higher than that in children with early clinical stages (Ⅰ and Ⅱ). 1q gain, 1p LOH, and 16q LOH showed no significant correlation with gender, unilateral or bilateral disease, chemotherapy, or lymph node metastasis. The progression-free survival (PFS) time for patients with 1q gain and 1p LOH was significantly shorter than those without these aberrations (P<0.05). Additionally, the PFS time of patients with 16q LOH was slightly shorter than those with normal 16q, although the difference was not statistically significant. Patients with stage Ⅲ to Ⅳ disease exhibiting 1q gain or 1p LOH had a significantly higher relative risk of recurrence, metastasis, and mortality. Conclusions 1p/16q LOH and 1q gain are associated with age, high-risk histological type, and clinical stage in Wilms tumor. 1q gain and 1p LOH are significantly correlated with the prognosis of Wilms tumor.

    基因,肾母细胞瘤杂合子缺失病理学,临床预后

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    基因检测在甲状腺结节诊断中分层应用模式的研究

    管文燕郑金榆聂岭吴鸿雁...
    264-268页
    查看更多>>摘要：目的 探讨单基因BRAF V600E检测与多基因检测作为甲状腺结节诊断分子标志物的价值及分层应用的模式。 方法 收集南京大学医学院附属鼓楼医院2020年12月至2022年7月1 117例甲状腺结节切除术患者，均行术前穿刺样本基因检测和细胞病理检查。以术后组织病理结果为“金标准”，比较单基因BRAF V600E检测和多基因检测的诊断性能，并结合甲状腺细胞病理学Bethesda报告系统（BSRTC）分类，分析基因检测在甲状腺结节诊断中的应用模式。 结果 1 117例甲状腺结节切除术患者，男性285例，女性832例，中位年龄46岁（24~76岁）。经术后组织病理学证实为甲状腺癌1 040例，良性结节77例。多基因检测的灵敏度、诊断符合率显著高于单基因检测（87.0%∶80.8%，P<0.01）、（87.9%∶82.1%，P<0.01）。多基因检测以检出BRAF V600E突变为主，其次是CCDC6-RET（E1-E12）融合突变、ETV6-NTRK3融合突变、KRAS突变。对于BSRTCⅠ~Ⅴ类结节，多基因检测相较于单基因检测具有更高的灵敏度（81.9%∶72.8%，P<0.01）、野生型恶性风险较低（47.6%∶57.7%，P=0.069）。其中，BSRTCⅠ类结节，两者灵敏度其差异无统计学意义（P>0.05）；BSRTCⅢ类结节，多基因检测灵敏度更高，差异有统计学意义（86.3%∶74.0%，P<0.01）。 结论 基因检测可作为甲状腺结节良恶性诊断的有效辅助工具，且多基因的诊断性能更优。本文提出一种优化的基因检测分层应用模式：初次细针穿刺活检，推荐同时进行基因检测；对于初次细针穿刺活检选择单基因但未检测突变的BSRTCⅢ类结节，重复细针穿刺活检推荐进行多基因检测。 Objective To investigate the value of BRAF V600E and multigene detection and stratified application for the diagnosis of thyroid nodules. Methods A total of 1 117 patients with thyroid nodules resection at Nanjing Gulou Hospital from December 2020 to July 2022 were enrolled in the study. Fine needle aspiration (FNA) and core biopsy samplings were performed for cytopathologic examination and genetic testings the findings were combined with BSRTC classification. The diagnostic performance of BRAF V600E and multigene detection were compared. Results Among the 1, 117 patients who underwent thyroid nodules resection, 285 were male and 832 were female, with a median age of 46 years (range: 24-76 years). Postoperative histopathologic examination confirmed 1 040 cases of thyroid cancer and 77 cases of benign nodules. The sensitivity (87.0% vs. 80.8%, P<0.01) and diagnostic accuracy (87.9% vs. 82.1%,P<0.01) of multigene detection were significantly higher than those of BRAF V600E detection. The result of multigene detection showed that BRAF V600E mutation was the most common finding, followed by CCDC6-RET (E1-E12) fusion, ETV6-NTRK3 fusion, and KRAS mutation. Multigene detection had a higher sensitivity (81.9% vs. 72.8%,P<0.01) and lower cancer risk in wild-type (47.6% vs. 57.7%,P=0.069) than BRAF V600E detection in BSRTCⅠ-Ⅴ lesions. Compared with BRAF V600E detection, multigene had no significant difference of sensitivity in BSRTC Ⅰ lesions, but significantly higher sensitivity (86.3% vs 74.0%, P<0.01) in BSRTC Ⅲ lesions. Conclusions Genetic detection can be used as an effective tool for the diagnosis of thyroid nodules. A stratified application of molecular markers in the diagnosis of thyroid nodules is proposed. Combined with FNA, single gene or multigene detection both can effectively assist in the diagnosis of thyroid nodules. Moreover, multigene detection is superior to single gene detection. For BSRTC Ⅲ lesion with wild-type BRAF, multigene detection can be considered with a repeated FNA.

    基因甲状腺结节分子诊断技术

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    SWI/SNF复合体缺失胃肠道肿瘤36例临床病理学分析

    赵雪莲孟丽丽章琼燕张小垒...
    269-275页
    查看更多>>摘要：目的 探讨胃肠道SWI/SNF复合体缺失表达相关性肿瘤的临床病理学特征并进行预后分析。 方法 收集复旦大学附属中山医院病理科2021年8月至2023年5月确诊的具有SWI/SNF复合体缺失表达的胃肠道肿瘤病例，复习HE切片，分析免疫组织化学结果，记录临床病理学信息，并复习相关文献。 结果 共计检索出胃肠道肿瘤SWI/SNF复合体缺失表达的病例36例，其中男性28例（77.8%），女性8例（22.2%），患者平均发病年龄70岁（范围48~85岁）。临床分期Ⅰ期3例（8.3%），Ⅱ期12例（33.3%），Ⅲ期19例（52.8%），Ⅳ期2例（5.6%）。ARID1A完全或部分缺失表达20例（55.6%）；SMARCA2完全或部分缺失表达24例（66.7%）；SMARCA4完全或部分缺失表达4例（11.1%）；同时具有ARID1A与SMARCA2完全或部分缺失表达11例（30.6%）。伴有错配修复蛋白缺失表达12例（33.3%），均为MLH1/PMS2缺失表达，错配修复蛋白的缺失表达与ARID1A的缺失表达显著相关（P<0.01），伴有错配修复缺陷的患者与临床分期早、较少出现淋巴结转移显著相关（P<0.05）。 结论 胃肠道SWI/SNF复合物缺失与肿瘤发生去分化相关，并且常伴有错配修复蛋白缺陷，相比于错配修复蛋白完整的病例，伴有错配修复蛋白缺陷的病例临床分期较早、淋巴结转移风险低。 Objective To investigate the clinicopathological characteristics of gastrointestinal tumors with SWI/SNF complex deficiency and to perform a prognostic analysis of the patients. Methods Gastrointestinal tumor cases with SWI/SNF complex deficiency expression diagnosed at the Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai, China from August 2021 to May 2023 were collected. Hematoxylin and eosin (HE) stained slides were reviewed, and immunohistochemical results were analyzed. Clinical and pathological information was recorded, and relevant literature was reviewed. Results A total of 36 cases of gastrointestinal tumor with loss of SWI/SNF complex expression were identified, including 28 males (77.8%) and 8 females (22.2%). The average age at diagnosis was 70 years (range 48-85 years). Clinical staging showed 3 cases in stage Ⅰ (8.3%), 12 cases in stage Ⅱ (33.3%), 19 cases in stage Ⅲ (52.8%), and 2 cases in stage Ⅳ (5.6%). Complete or partial loss of ARID1A expression was observed in 20 cases (55.6%) complete or partial loss of SMARCA2 expression was observed in 24 cases (66.7%). SMARCA4 exhibited complete loss of expression in 4 cases (11.1%). Eleven cases (30.6%) showed concurrent complete or partial losses of both ARID1A and SMARCA2 expression. Twelve cases (33.3%) had mismatch repair protein deficiency, all of which were characterized by MLH1/PMS2 absence. Mismatch repair protein deficiency was associated with loss of ARID1A expression (P<0.01). Patients with mismatch repair protein deficiency were also associated with earlier clinical stage and a lower risk of lymph node metastasis compared to the ones with intact mismatch repair proteins (P<0.05). Conclusions SWI/SNF complex deficiency in gastrointestinal tumors is associated with dedifferentiation and often accompanied by mismatch repair protein deficiency. Compared to the cases with intact mismatch repair proteins, the cases with defective mismatch repair protein have an earlier clinical stage and a lower risk of lymph node metastasis.

    胃肠肿瘤DNA错配修复SWI/SNF复合体

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    伴导管分化的食管癌17例临床病理及分子特征分析

    蒋文娟敖爽崔阳阳卢璐...
    276-281页
    查看更多>>摘要：目的 探讨伴导管分化的食管癌临床病理学特征及分子遗传学特征，为其诊治积累经验。 方法 收集宁波市临床病理诊断中心2011年6月至2022年12月确诊的伴导管分化的食管癌17例，整理临床及病理诊断信息，通过HE切片观察其组织学特征，选择肿瘤组织区域获取DNA，采用二代测序技术检测并分析肿瘤标本中的基因突变情况。 结果 17例病例，男性16例，女性1例；患者年龄54~77岁，中位年龄66岁。其中9例以伴导管分化的癌为主，肿瘤表面鳞状上皮均伴有高级别上皮内瘤变，肿瘤与异型鳞状上皮有移行，局灶伴有不同程度的鳞状细胞癌成分（<10%）；另外8例肿瘤主体为不同分化程度的鳞状细胞癌或基底样鳞状细胞癌或肉瘤样癌，局灶区域为伴导管分化的癌（<10%）；伴导管分化区域的肿瘤细胞主要呈小管状排列，小管呈双层结构，即管腔内层细胞和外层细胞。免疫组织化学结果显示肿瘤性小管外层细胞表达p63、p40、细胞角蛋白（CK）5/6、CK34βE12，内层细胞表达CK7。与文献报道的食管鳞状细胞癌相比较，本组病例中MYC（P=0.002）、TP63（P=0.002）、CDKN1C（P=0.002）和NFE2L2（P=0.045）等基因突变发生频率更低；信号通路层面，NOTCH信号通路（P=0.041）突变发生频率更高，而NRF2通路（P=0.013）和PI3K通路（P=0.009）突变相对于食管鳞状细胞癌发生频率更低。 结论 伴导管分化的食管癌是一种形态学特殊的食管癌，分子改变与普通的食管鳞状细胞癌也存在明显差异。 Objective To investigate the clinicopathological features and molecular genetic characteristics of esophageal carcinoma with ductal differentiation, and to summarize the experiences in its diagnosis and treatment. Methods A total of 17 cases of esophageal carcinoma with ductal differentiation diagnosed in Ningbo Clinical Pathological Diagnosis Center, Ningbo, China from June 2011 to December 2022 were collected. The clinical information and pathological diagnosis was reviewed. The tumor histological features and immunohistochemical results were analyzed. The next-generation sequencing was performed to detect and analyze the gene mutations in tumor samples. Results The 17 patients included in this study were 54-77 years old, with a median age of 66 years. There were 16 males and 1 female. Among them, 9 cases were mainly carcinoma with ductal differentiation. The squamous epithelium on the tumor′s surface was accompanied by high-grade intraepithelial neoplasia. The tumor and atypical squamous epithelium were transitional, and the focus was accompanied by various proportions of squamous cell carcinoma component (less than 10%). The other 8 cases were mostly squamous cell carcinoma, basaloid squamous cell carcinoma or sarcomatoid carcinoma with various degrees of tumor specific differentiation and focal area of carcinoma with ductal differentiation (less than 10%). The tumor cells in the area with ductal differentiation were mainly arranged in small tubes, while the tubes showed a double-layer structure, including the inner cells and outer cells of the lumen. Immunohistochemical results showed that the outer cells of the tumorous tubules expressed p63, p40, CK5/6 and CK34βE12, while the inner cells expressed CK7. Compared with esophageal squamous cell carcinoma reported in the literature, the frequency of gene mutations such as MYC (P=0.002), TP63 (P=0.002), CDKN1C (P=0.002) and NFE2L2 (P=0.045) was significantly lower in this group of cases. At the signaling pathway level, the mutation frequency of NOTCH signaling pathway (P=0.041) was significantly higher, while the mutation frequencies of NRF2 pathway (P=0.013) and PI3K pathway (P=0.009) were significantly lower than that of esophageal squamous cell carcinoma. Conclusion Esophageal carcinoma with ductal differentiation is a type of esophageal carcinoma with unique morphology, and its molecular changes are also significantly different from those of conventional esophageal squamous cell carcinoma.

    食管肿瘤DNA突变分析免疫组织化学

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