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World Journal of Gastroenterology 2020年第36期26卷 5520-5526页

作者： Yinan Hua Piyush Soni Douglas Larsen Riyam Zreik Bing Leng Debby Rampisela Department of Pathology Baylor Scott&White HealthTexas A&M University College of MedicineTempleTX 76508United States

BACKGROUND smarcb1/ini1-deficient pancreatic undifferentiated rhabdoid carcinoma is a very aggressive tumor that is rarely reported in the *** tumor has a predominant rhabdoid cell component and different patterns of growth have been *** SUMMARY A 59-year-old woman presented with diffuse abdominal pain,increasing in severity and accompanied by weight loss,nausea,and *** showed a pancreatic head *** needle aspiration demonstrated atypical epithelioid cells with a pseudopapillary growth pattern suggestive of solid pseudopapillary *** excised neoplasm showed monotonous epithelioid and focally spindle cells with pseudopapillary structures,rhabdoid features,and loss of smarcb1 protein expression with wild-type KRAS,consistent with a smarcb1/ini1-deficient undifferentiated rhabdoid *** patient’s condition deteriorated rapidly following surgery and she expired 3 mo post *** In this article,we report the first case of smarcb1/ini1-deficient undifferentiated pancreatic rhabdoid carcinoma mimicking solid pseudopapillary neoplasm.

关键词： Pancreatic undifferentiated rhabdoid carcinoma Solid pseudopapillary neoplasm smarcb1/ini1 KRAS Case report

Tumor Response to Temsirolimus for Epithelioid Angiomyolipoma and Novel Mutation of <i>smarcb1/ini1</i>Tumor Suppressor Gene

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Journal of Cancer Therapy 2014年第13期5卷 1215-1222页

作者： Jung Yong Hong Jeeyun Lee Kyoung-Mee Kim Sung Joo Kim Department of Internal Medicine Chung-Ang University College of Medicine Seoul South Korea Department of Medicine Division of Hematology-Oncology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea Department of Pathology Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea Department of Surgery Samsung Medical Center Sungkyunkwan University School of Medicine Seoul South Korea

Epithelioid angiomyolipoma (EAML) is a rare morphologic variant of classic angiomyolipoma (AML), showing potentially malignant phenotype. AML is a benign mesenchymal tumor, which shows frequent inactivating mutations of?TSC1 (encodes harmartin) or?TSC2 (encodes tuberin) genes. Disruption of harmatin-tuberin complex and subsequent inappropriate activation of mTOR pathway is a distinct feature of AML. Thus, mTOR pathway inhibitors have shown significant clinical response in AML. Compared to the great success of mTOR inhibitors in AML, there is no standard therapy for EAML yet. Here, we present a patient with EAML who responded well to mTOR inhibitor (temsirolimus) but suffered rapid disease progression after cessation of temsirolimus. In addition, we performed Cancer Hotspot Panel (Ion AmpliSeqTM) analysis to identify novel tumorigenic properties of EAML. Of note, Cancer Hotspot Panel analysis revealed novel missense mutation in?smarcb1 (c.1119-41G > A) tumor suppressor gene and subsequent immunohistochemistry analysis also revealed weak and partial losses ofsmarcb1/ini1 protein in nuclei of tumor cells. In this study, we suggest that mTOR inhibitors also can be effective against EAML. However, the long-term efficacy of mTOR inhibitors in EAML needs to be supported in further studies. Furthermore, we speculate that the newly found missense mutation ofsmarcb1/ini1 gene can be the possible novel tumorigenic properties of EAML and highlights the possibility of further novel targeted therapy beyond mTOR inhibitors in EAML.

关键词： Epithelioid Angiomyolipoma Temsirolimus smarcb1/ini1

儿童颅底smarcb1/ini1缺失性差分化脊索瘤5例临床病理学观察

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中华病理学杂志 2022年第1期51卷 33-38页

作者：段泽君姚坤马忠胡泽娟向磊齐雪岭首都医科大学三博脑科医院病理科北京100093

目的探讨儿童颅底smarcb1/ini1缺失性差分化脊索瘤(poorly differentiated chordoma,PDC)的临床病理特点及鉴别诊断。方法整理2017年3月至2021年3月首都医科大学三博脑科医院诊断的脊索瘤139例,其中5例诊断为smarcb1/ini1缺失性的PDC,... 详细信息

目的探讨儿童颅底smarcb1/ini1缺失性差分化脊索瘤(poorly differentiated chordoma,PDC)的临床病理特点及鉴别诊断。方法整理2017年3月至2021年3月首都医科大学三博脑科医院诊断的脊索瘤139例,其中5例诊断为smarcb1/ini1缺失性的PDC,收集此5例患者的临床影像学资料,进行HE和免疫组织化学染色、DNA甲基化测序检测,并复习相关文献。结果5例PDC均发生在中颅底斜坡,平均年龄6.4岁(3~16岁);3例女性,2例男性。形态学上,缺乏脊索瘤的典型形态学特征,表现为成片或巢片状分布的上皮样或梭形肿瘤细胞,核分裂象活跃,均见坏死,可见肿瘤浸润周围组织。免疫表型特征上,表达脊索瘤常见免疫标志物广谱细胞角蛋白(CKpan)、上皮细胞膜抗原(EMA)、波形蛋白及brachyury,同时smarcb1/ini1核表达缺失。2例S-100蛋白阳性,Ki-67阳性指数高(20%~50%),均存在p53过表达。需要与儿童颅底发生的smarcb1/ini1缺失性肿瘤或具有上皮样和梭形细胞形态学特征的肿瘤进行鉴别。其中3例的甲基化特征不同于任何儿童非典型畸胎样/横纹肌样肿瘤亚组,构成独立的DNA甲基化特征簇。本组5例患者临床预后均很差,总体生存时间2~17个月。结论PDC属于新认识的smarcb1/ini1缺失性的特殊类型脊索瘤,多见于儿童,常累及颅底;表现为上皮样或梭形细胞的形态特征,具有脊索瘤的典型免疫表型特征,同时存在smarcb1/ini1表达缺失,并具有独特的表观遗传特征。

关键词：脊索瘤儿童颅窝,后基因缺失细胞分化 smarcb1/ini1

smarcb1/ini1缺失性肿瘤的研究进展

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临床与实验病理学杂志 2023年第5期39卷 584-588页

作者：赵紫琴天津市天津医院病理科天津300211

smarcb1/ini1蛋白是ATP依赖性SWI/SNF染色质重塑复合物的核心亚单位蛋白之一。smarcb1/ini1基因失活导致ini1蛋白表达缺失,是软组织肿瘤中最常失活的亚单位。smarcb1/ini1基因缺失表达最早在恶性横纹肌样瘤(malignant rhabdoid tumor,M... 详细信息

smarcb1/ini1蛋白是ATP依赖性SWI/SNF染色质重塑复合物的核心亚单位蛋白之一。smarcb1/ini1基因失活导致ini1蛋白表达缺失,是软组织肿瘤中最常失活的亚单位。smarcb1/ini1基因缺失表达最早在恶性横纹肌样瘤(malignant rhabdoid tumor,MRT)、非典型畸胎样/横纹肌样瘤(atypical teratoid/rhabdoid tumor,AT/RT)中发现,随着免疫组化及分子病理的广泛应用,越来越多的MRT-AT/RT谱以外的smarcb1/ini1缺陷肿瘤被报道,将其定义为smarcb1/ini1缺失性肿瘤。研究证实,smarcb1/ini1异常表达包括三种模式:完全缺失、镶嵌表达和表达降低。该文现对smarcb1/ini1缺失性肿瘤的研究进展作一综述,以期为smarcb1/ini1缺失相关肿瘤的研究、诊断及治疗提供依据。

关键词：软组织肿瘤恶性横纹肌样瘤非典型畸胎样/横纹肌样瘤 smarcb1/ini1 文献综述

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头颈部低分化脊索瘤临床病理分析和预后评估

临床肿瘤学杂志 2024年第5期29卷 489-493页

作者：何文源赖续文曾伟鹏喻玲王卓才王蔚中国人民解放军南部战区总医院病理科广州510010

目的探讨低分化脊索瘤(PDC)的临床病理特点及鉴别诊断,并评估其预后。方法收集2006年1月至2022年6月解放军南部战区总医院6例头颈部PDC患者的临床和影像学资料,采用HE染色、免疫组织化学染色和荧光原位杂交(FISH)检测,探讨其临床病理特... 详细信息

目的探讨低分化脊索瘤(PDC)的临床病理特点及鉴别诊断,并评估其预后。方法收集2006年1月至2022年6月解放军南部战区总医院6例头颈部PDC患者的临床和影像学资料,采用HE染色、免疫组织化学染色和荧光原位杂交(FISH)检测,探讨其临床病理特征及预后。结果6例患者中,女性5例,男性1例;年龄4~37岁,中位年龄15岁;肿瘤位于颈椎4例,颅底2例。镜下上皮样或梭形肿瘤细胞呈巢团状或弥漫片状分布,巢团中央可见坏死,部分瘤细胞呈横纹肌样,细胞核呈囊泡状,核仁明显,核分裂象多少不等,间质淋巴细胞、浆细胞及中性粒细胞浸润。免疫表型:6例肿瘤细胞CK、EMA、Vimentin和Brachyury均弥漫阳性,smarcb1/ini1核表达均缺失,Ki-67增殖指数10%~50%不等。5例患者行肿瘤大部分切除术,1例仅放化疗。5例患者获随访,分别于首诊后2~17个月死亡,中位生存时间5个月。结论颈椎亦是PDC好发部位,常因缺乏经典脊索瘤形态特征而易于误诊,但免疫表型与经典脊索瘤相同,smarcb1/ini1核表达缺失是重要诊断线索。PDC易复发及转移,预后差。

关键词：脊索瘤低分化颈椎 smarcb1/ini1 预后

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上皮样神经鞘瘤1例

诊断病理学杂志 2019年第6期26卷 368-368,374页

作者：刘建兰成志强彭全洲王晓玫胡锦涛深圳市人民医院病理科

患者女性,32岁。发现左颈部肿物3年余。患者3年前无意中发现左颈部一肿物,无咳嗽、咳痰、发热、盗汗,未予诊治,肿物缓慢增大,为求进一步治疗来我院就诊。B超示左颈部皮下4 mm处见一3. 5 cm×1. 9 cm混合性回声团,边界清,椭圆形,有包膜... 详细信息

患者女性,32岁。发现左颈部肿物3年余。患者3年前无意中发现左颈部一肿物,无咳嗽、咳痰、发热、盗汗,未予诊治,肿物缓慢增大,为求进一步治疗来我院就诊。B超示左颈部皮下4 mm处见一3. 5 cm×1. 9 cm混合性回声团,边界清,椭圆形,有包膜。术中于左胸锁乳突肌后缘深面见一肿物,部分与颈丛神经粘连。

关键词：上皮样神经鞘瘤免疫组化 smarcb1/ini1