恶性蝾螈瘤MR影像分析（附1例报道）

目的：探讨恶性蝾螈瘤（MTT）的MRI表现和临床病理特点,提高临床对MTT的认识.方法：手术切除辅以放疗治疗右前臂MTT 1例.结合文献复习,分析MTT的MRI表现及病理特征.结果：MTT的MRI表现为T1WI稍低信号、T2WI高信号的软组织肿块,肿瘤信号不均、T2WI上高信号肿块影内环形或线样低信号分隔影或许是MTT的特征性MRI表现之一.MTT的恶性度高,其治疗以手术切除为主,疗效及预后不佳,易在短期内复发及转移.结论：深入了解MTT的MRI表现,对MTT的早期诊断、早期治疗具有重要价值.     

恶性外周神经鞘瘤52例临床病理分析

目的观察恶性外周神经鞘瘤的临床病理学特征、诊断及鉴别诊断。方法回顾性分析52例恶性外周神经鞘瘤的临床病理学及免疫表型特征并复习相关文献。结果 52例患者中,男女发病率为1∶1,年龄4~71岁,头颈部18例(35%),四肢12例(23%),躯干9例(17%),深部组织8例(15%),椎管内4例(8%),生殖道1例(2%)。镜下肿瘤组织呈束状或漩涡状排列,瘤细胞短纺锤形、卵圆形、梭形,核分裂象易见。免疫表型:瘤细胞局灶表达S-100蛋白,Ki-67增殖指数10%~70%。结论恶性外周神经鞘瘤罕见,侵袭性高,预后差,其组织形态复杂多样,需与滑膜肉瘤、纤维肉瘤、血管外皮瘤、富于细胞性神经鞘瘤、纤维型脑膜瘤以及平滑肌肉瘤等鉴别。     

肾外恶性横纹肌样瘤临床病理分析

目的：探讨恶性横纹肌样瘤的临床病理表现。方法：用光镜、免疫组化及特染等方法观察其病理组织学特点。结果：该例具有典型巢团状浸润生长的多边形横纹肌样瘤细胞,胞浆丰富嗜酸性,胞浆内可见或多或少胞浆空泡及包涵体,泡状核、核仁明显。瘤细胞排列有假腺泡状,放射状,副节瘤样及淋巴瘤样等多形性改变。结论：该肿瘤瘤细胞呈免疫多表型,其神经性、上皮性、肌性混合多项阳性。     

儿童恶性横纹肌样瘤9例临床病理分析

目的探讨儿童恶性横纹肌样瘤(malignant rhabdoid tumor, MRT)的临床病理学特征。方法回顾性分析9例儿童MRT的临床病理学特征、免疫表型、诊断及鉴别诊断、治疗及预后,并复习相关文献。结果 9例MRT中男性7例,女性2例,患儿年龄1个月～9岁。镜检:肿瘤细胞排列成不相黏附的巢状或实性片状。瘤细胞体积大,呈圆形或卵圆形,胞质丰富,嗜伊红色,内含PAS阳性的球形毛玻璃样包涵体,类似横纹肌细胞。核偏位,染色质呈空泡状,可见明显核仁,核分裂象常见。免疫表型:瘤细胞CK(AE1/AE3)、EMA、vimentin和Syn均阳性,MyoD1、desmin和INI-1均阴性。Ki-67增殖指数30%～70%,平均56.3%。结论 MRT是一种罕见的好发于婴幼儿的高度恶性肉瘤,具有相对独特的病理学形态特点,并伴有INI-1基因表达缺失。病理诊断需与近端型上皮样肉瘤、滑膜肉瘤、肾髓质癌等相鉴别。MRT对放、化疗反应不敏感,尤其是发生于肾内者,预后极差,病死率高。     

伴血管肉瘤的恶性外周神经鞘瘤1例并文献复习

目的探讨伴血管肉瘤的恶性外周神经鞘瘤(malignant peripheral nerve sheath tumor, MPNST)的临床病理学特征。方法回顾性分析1例伴血管肉瘤的MPNST的临床病理学及免疫表型特征,并复习相关文献。结果患者男性,54岁,临床表现为右小腿渐进性肿胀伴疼痛5年;镜下肿瘤由增生活跃的异型梭形细胞构成,内散在多灶裂隙状或迷路状腔隙结构,内衬细胞核大深染,核仁明显,核分裂象易见;免疫表型:梭形细胞表达S-100、SOX10、vimentin、CD99、BCL-2等;腔隙内衬细胞表达CD34、CD31、ERG;符合伴血管肉瘤的MPNST。患者术后1年双肺多发转移。结论 MPNST可伴随出现一些异源性成分,伴血管肉瘤成分极罕见。伴血管肉瘤的MPNST好发于中青年男性,约半数病例有神经纤维瘤病基础,转移或复发常见,转移成分以血管肉瘤为主,预后差。     

肺原发性恶性外周神经鞘瘤的临床病理分析

目的 探讨肺脏原发性恶性外周神经鞘瘤(MPNST)的临床病理学特征及诊断、鉴别诊断要点。方法 对2例肺MPNST进行临床病理学分析及免疫组织化学与超微结构研究。结果 2例光镜下均显示MPNST的形态特点，免疫组织化学显示S-100蛋白、MBP、Vim、NSE肿瘤细胞呈阳性表达，电镜观察1例可见特征性Luse小体。结论 肺原发性MPNST极为罕见，临床诊断较困难。根据其光镜病理形态特征，S-100蛋白、MBP免疫组织化学检测和(或)电镜检查可确诊。结合文献，该肿瘤早期无明显临床症状，一般发现时已属晚期，预后差。病理学上应与肺脏平滑肌肉瘤、纤维肉瘤、单相型滑膜肉瘤、肉瘤样癌鉴别。     

软组织恶性混合瘤/肌上皮癌1例并文献复习

目的 探讨软组织恶性混合瘤/肌上皮癌(malignant mixed tumor/myopeithelia carcinoma,MMTMC)的临床病理特征、免疫表型、鉴别诊断及预后.方法 对1例原发于大腿的软组织MMTMC进行HE和免疫组化染色,并复习相关文献.结果 患者男性,75岁,3个月前发现右大腿后部占位,进行性...     

中枢神经系统非典型畸胎瘤样/横纹肌样瘤10例临床病理分析

目的 探讨中枢神经系统非典型畸胎瘤样/横纹肌样瘤(atypical teratoid/rhabdoid tumor,AT/RT)的临床病理学特征、诊断、鉴别诊断及预后.方法 回顾性分析2016年～2019年中南大学湘雅医院诊治的10例AT/RT的临床、影像学及病理学特征,并对其进行随访及相关文献复习.结果 10例患者发...     

41例横纹肌肉瘤的临床病理及电镜与免疫组化研究

我室1958年～1986年病理外检所遇到的横纹肌肉瘤41例,男性25例,女性16例,男:女为1.6∶1。发病高峰年龄为10岁以前组(占41.5%),并对10例诊断横纹肌肉瘤及9例疑似本病者做了肌红蛋白免疫组织化学(ABC法)染色观察,2例做了电镜观察。以上方法对判断横纹肌肉瘤具有特异性,根据我们的经验并结合文献复习对横纹肌肉瘤组织学分类补充了未分化和高分化二个亚型。     

子宫恶性苗勒管混合瘤4例临床病理分析

目的探讨子宫恶性苗勒管混合瘤(malignant mixed Mullerian tumor,MMMT)的临床病理学特征、免疫表型、诊断及鉴别诊断。方法采用免疫组化EnVision法对4例MMMT进行检测并复习相关文献。结果肿瘤呈息肉状生长,由上皮和间质两种成分构成,2例上皮成分为子宫内膜样腺癌,1例为浆液性癌,1例为黏液腺癌,4例间质成分均为横纹肌肉瘤。免疫表型:上皮成分CKpan(4/4)、vimentin(2/4)和Pax-8(3/4)均阳性,间质成分CKpan(2/4)、vimentin(4/4)、desmin(4/4)、MyoD1(1/4)、CD10(1/4)、p16(3/4)和p53(3/4)均阳性,Pax-8、SMA、S-100和CD68均阴性。结论子宫MMMT是一种少见的高度恶性上皮和间质混合性肿瘤,具有独特的临床病理学特征,预后差。     

Fine‐needle aspiration cytology of epithelioid malignant peripheral nerve sheath tumor: A case report and review of the literature

The epithelioid variant of malignant peripheral nerve sheath tumor (eMPNST) is an extremely rare soft tissue neoplasm comprising less than 5% of all MPNSTs. It is distinguished cytomorphologically from a conventional MPNST by the presence of polymorphous round epithelioid cells arranged in loose clusters with or without spindled tumor cells. These features pose a diagnostic challenge because the differential diagnosis involves a variety of mesenchymal and non‐mesenchymal tumors including epithelioid sarcoma, sclerosing epithelioid fibrosarcoma, malignant rhabdoid tumor, chordoma, metastatic carcinomas, and melanoma. Thus, it may become imperative to perform immunochemical stains on cell blocks of FNA aspirates to arrive at definitive diagnosis. Reports describing the cytologic features of eMPNST are rare. Herein, we report a case of eMPNST with focus on cytomorphologic and cytoimmunochemical features and differential diagnosis. Diagn. Cytopathol. 2016;44:226–231. © 2015 Wiley Periodicals, Inc.     

Liposarcomatous differentiation in malignant peripheral nerve sheath tumor: A case report

A 63-year-old man was admitted at the emergency department in an acute confusional state, and a computerized tomography scan (CT) revealed hydrocephalus. Despite the rapid introduction of a ventriculo-peritoneal shunt, the patient died soon thereafter. At the post-mortem examination, a large solid mass was found to be firmly attached to a nerve root at the L1–L2 level. Microscopically, the tumor showed the classical features of a malignant peripheral nerve sheath tumor (MPNST) with rhabdomyoblastic differentiation. In addition, there were randomly distributed lobules of well-differentiated adipose tissue with unequivocal atypical nuclei. The diagnosis of MPNST with rhabdomyoblastic and lipoblastic differentiation was made. We are not aware of previously reported lipoblastic differentiation in MPNST. Herein, we present details of the case.     

Malignant transformation of neurofibromatosis-1 into low-grade malignant peripheral nerve sheath tumor: a case report

Malignant Peripheral Nerve Sheath Tumor (MPNST) is a malignant mesenchymal tumor. The majority of MPNSTs are found in patients with neurofibromatosis type 1 (NF-1) who have a high-grade sarcoma. At the moment, there are just a few instances of low-grade MPNST caused by NF-1. We present a case of malignant transformation of NF-1 into low-grade MPNST in a patient with a long history of the disease. Multiple protruding masses with ulceration on the right shoulder and chest wall were discovered during physical examination. Complete tumor excision was done, followed by hematoxylin-eosin and immunohistochemical staining. A portion of the tumor had higher cellularity, hyperchromatic cell nuclei, and mitoses were seen in only five out of ten high-power fields. S-100 and vimentin were positive, whereas cytokeratin, desmin, SMA, and CD34 were negative. Ki-67 (MIB1) labeling index hot-spotting was around 25%. This was thought to be NF-1 malignant transformation into low-grade MPNST. Overall, knowing the clinical and pathologic characteristics of the disease, plus growing knowledge or experience with the condition, may improve preoperative diagnostic accuracy and extending survival time.     

Fine-needle aspiration cytology and core biopsy of malignant peripheral nerve sheath tumor of the uterus: a case report

Malignant peripheral nerve sheath tumor (MPNST) is an uncommon mesenchymal neoplasm of neural origin. MPNST arising in the uterus is extremely rare. Its histologic appearance on this anatomical location has been only rarely reported. A 62-yr-old woman with a previous history of partial hysterectomy presented with a large pelvic mass in the uterine stump. Fine-needle aspiration (FNA) and core biopsy were obtained under ultrasonographic guidance, and the diagnosis of MPNST was established. The cytologic and histologic findings were consistent with a spindle-cell neoplasm suggestive of MPNST. The tumor cells were focally positive for S-100 protein immunostain, thus providing further support for the neoplasm's nerve sheath differentiation. The patient had no history of von Recklinghausen's disease. Resection of the mass confirmed the diagnosis of MPNST. To our knowledge, the FNA cytology of MPNST in this unusual location has not been previously reported. FNA cytology, along with core biopsy and immunochemistry, is a reliable tool in the diagnosis of MPNST.     

上皮样恶性周围性神经鞘瘤临床病理分析

目的 探讨上皮样恶性周围性神经鞘瘤(epithelioid malignant peripheral nerye sheath tumor,EMPNST)的临床病理特征及鉴别诊断.方法 收集9例EMPNST的临床病理资料,行光镜和EnVision法免疫组化观察,并复习文献.结果 9例EMPNST,女性4例;年龄20～67岁,中位年龄37.5岁;病变主要位于四肢,上肢3例,下肢4例,右季肋部和咽隐窝各1例;>5 cm 7例,其中1例>10 cm;<5 cm 2例,平均6.2 cm,无包膜.深在型8例,浅在型1例,组织学,纯上皮样型5例,其中2例见节细胞样或横纹肌样瘤样区域,4例混合型伴有梭形细胞区.免疫表型S-100蛋白及NSE 9例均呈阳性反应,纯上皮样型5例S-100蛋白呈强阳性,4例混合型呈灶性阳性,8例PGP 9.5阳性,7例MBP阳性,5例EMA灶性或弱阳性,4例vimentin阳性,3例CD57灶性阳性,而HMB-45、desmin、CD34、CK阴性.结论 EMPNST是恶性周围性神经鞘瘤的一种少见亚型,形态学上缺乏特征性,易与其他软组织上皮样肿瘤混淆.S-100蛋白及PGP9.5阳性是诊断EMPNST有价值的指标,但缺乏特异性,因此诊断时必须结合临床、组织形态和免疫表型的结果,综合判断以免引起误诊.     

Cytohistologic correlations of 24 malignant peripheral nerve sheath tumor (MPNST) in 17 patients: the Institut Curie experience

Cytomorphological patterns of malignant peripheral nerve sheath tumor (MPNST) are insufficiently documented in the literature. Cytological and histological specimens in 24 tumors in 17 patients were correlated. The review of the original cytology reports showed that four (16.6%) tumors were correctly diagnosed, eight (33.3%) were diagnosed as sarcoma not otherwise specified, four (16.7%) as fibrosarcoma, three (12.5%) as synovial sarcoma, three (12.5%) as leiomyosarcoma, and one (4.2%) case each as malignant fibrous histiocytoma and rhabdomyosarcoma. At the review tumors were histologically reclassified as well-differentiated MPNST in 11 (45.9%) cases, anaplastic MPNST in 11 (45.9%) cases, and epithelioid MPNST and malignant Triton tumor in one (4.2%) case each. Cytologically, well-differentiated MPNST were composed of polymorphous oval to round cells, small spindle-shaped cells with wavy and comma-like naked nuclei, and a fibrillary, delicate stroma. Anaplastic MPNST, moreover, were composed of anaplastic giant and polymorphous cells. The malignant Triton tumor was composed of oval to round rhabdomyoblastic cells with eccentric nuclei and the epithelioid MPNST of polymorphous and round, epithelial-like cells. The cytological diagnosis of MPNST may be difficult, especially in anaplastic tumors. The correlation between the cytological features and the clinical information--origin of the tumor from a nerve trunk, a preexisting neurofibroma, patients with known history of neurofibromatosis 1--could be indicative of an MPNST diagnosis.     

心包内及后纵隔恶性神经鞘瘤1例报告并文献复习

目的:提高对心包内恶性神经鞘瘤的临床认识.方法:对我院治疗的1例心包内及后纵隔恶性神经鞘瘤合并心包填塞患的临床病理资料进行报告,并分析国内外文献报道的6例心包内恶性神经鞘瘤的临床资料.结果:心包内恶性神经鞘瘤以心包填塞为主要症状,心脏彩超及胸部CT检查是临床上诊断心包内肿瘤的主要手段,确诊依靠组织病理学及免疫组化检查,手术切除肿瘤能缓解心包填塞症状.结论:心包内恶性神经鞘瘤临床罕见,预后较差,手术切除肿瘤是其有效的治疗方法之一.     

Peripheral nerve sheath tumors: an update and review of diagnostic challenges

Peripheral nerve sheath tumors (PNSTs) are one of the more common soft tissue neoplasms encountered in the daily surgical pathology practice, most of which have classic histologic features. There are, however, some common diagnostic challenges encountered by surgical pathologists and neuropathologists, as well as controversies regarding classification and grading of PNSTs. As molecular studies advance and novel targeted therapies are developed, it has become imperative that we become familiar with the diagnostic criteria for these common neoplasms and their potential mimics.     

Glomus tumor of uncertain malignant potential of the lung: a case report and review of literature

Glomus tumor is an uncommon tumor usually presenting in the dermis. Rarely, it occurred in visceral organs including stomach, liver and long. The majority of glomus tumors were benign. Herein, we present a case of glomus tumor located in the left lobe of the lung in a 49 year-old Chinese male. An irregular mass measuring 3 cm was detected by imaging examination because of his suffering from cough, dyspnea and chest pain. Histologically, the tumor is composed predominantly of sheets of ovoid to round cells with clear border, pale cytoplasm and fine granular chromatin. The mitotic count was less than 5 per 50 HPF. The tumor focally invaded the surrounding normal bronchial and alveolar tissue. Immunohistochemical staining showed that the cells were diffusely positive for SMA, caldesmon, and vimentin. The Ki-67 proliferation index was approximately 20%. Based on morphologic features and the immunohistochemical profile, the tumor was consistent with glomus tumor of uncertain malignant potential.