骶骨富于细胞神经鞘瘤8例临床病理分析

目的探讨骶骨富于细胞神经鞘瘤的临床病理特点及与骶骨经典型神经鞘瘤的异同。方法回顾性分析8例发生于骶骨的富于细胞神经鞘瘤的临床资料、影像学、病理学特征、免疫表型、鉴别诊断及预后。结果 8例中女性5例,男性3例,平均年龄46.4岁。临床上以骶尾部疼痛为主,影像学上表现为骶骨或骶骨及骶前肿块。镜下见富于细胞神经鞘瘤由梭形细胞组成,呈条束状、交织状排列,无明显栅栏状排列和"verocay小体"结构,未见明显束状区和网状区,伴有骨质破坏。免疫表型:瘤细胞S-100蛋白和vimentin均弥漫强阳性,Ki-67增殖指数3%~10%。8例中有4例为复发病例,平均复发时间6.5年。结论骶骨富于细胞神经鞘瘤是一种少见肿瘤,由于其形态学和生长方式与骶骨经典型神经鞘瘤有一定的差异,故病理诊断时应将该肿瘤给予注明,以供临床随访、治疗。     

富于细胞性神经鞘瘤2例临床病理分析

目的 探讨富于细胞性神经鞘瘤临床病理学特点及其诊断与鉴别诊断.方法 对2例富于细胞性神经鞘瘤进行临床资料分析、组织学形态和免疫表型观察.结果 富于细胞性神经鞘瘤好发于腹膜后,临床上表现为缓慢生长的无痛性肿块.大体肿瘤呈圆形、椭圆形,包膜完整,切面实性,灰白、灰黄色.镜下肿瘤具有完整的包膜,在包膜外或包膜下可见淋巴细胞聚集灶,形成袖套样结构.免疫组化肿瘤细胞S-100、GFAP和CD57均弥漫强阳性,不表达CK(AE1/AE3)、desmin、SMA、CD34、CD117和DOG1.结论 富于细胞性神经鞘瘤是一种少见的假肉瘤性病变,大体表现、组织学特点是其诊断及鉴别诊断的主要依据,免疫组化标记有助于诊断和鉴别诊断.     

富于细胞性神经鞘瘤30例临床病理分析

目的探讨富于细胞性神经鞘瘤(cellular schwannoma, CS)的临床病理学特点、免疫表型及鉴别诊断。方法回顾性分析2014～2020年北京积水潭医院诊治的30例CS的临床及影像学特点、病理学特征及免疫表型等,并复习相关文献。结果 30例CS中,女性22例,男性8例,年龄12～65岁,平均44.6岁。发生部位分别为椎管内、肢体及腹腔,其中2例为多发病变。术前病程14天～30年,大多表现为缓慢生长的肿块,可伴感觉障碍,最大径1～20.5 cm,平均5.8 cm。镜下大部分肿瘤边界清楚,厚薄不等的纤维性包膜中可见淋巴细胞浸润,丰富的梭形细胞呈束状、编织状或漩涡状排列,与经典型神经鞘瘤Atoni A区类似,细胞有轻度异型性,可见核分裂象(0～8个/10 HPF),间质内血管壁玻璃样变性。免疫表型:30例S-100、SOX10及H3K27me3均弥漫阳性,12例GFAP阳性(12/30,40%),2例CD34小灶阳性(2/30,6.7%),Ki-67增殖指数1%～20%。28例患者获得随访,随访时间5～62个月,4例局部复发。结论 CS是一种罕见的良性神经源性肿瘤,免疫组化有助于与恶性外周神经鞘瘤及滑膜肉瘤鉴别。多数患者预后良好,复发与病变部位和手术切缘是否阳性直接相关。     

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。     

丛状神经鞘瘤2例临床病理分析

目的探讨丛状神经鞘瘤的临床病理学特征、诊断及鉴别诊断。方法观察2例丛状神经鞘瘤的临床表现、组织学形态及免疫表型并复习相关文献。结果 2例患者中,男女各1例,年龄分别为16岁和31岁,肿瘤均位于躯干皮肤。镜下见肿瘤在皮下呈多结节状分布,结节内瘤组织以细胞致密区(Antoni A)为主,相对缺乏细胞疏松区(Antoni B)。瘤细胞长梭形或波浪状,呈栅栏状、漩涡状排列,可见verocay小体。免疫表型:肿瘤细胞S-100及vimentin均弥漫阳性,GFAP部分阳性,EMA、CD57及Ki-67均阴性。结论丛状神经鞘瘤是一种较少见的良性周围神经鞘膜瘤,需与丛状神经纤维瘤、丛状纤维组织细胞瘤、丛状恶性外周神经鞘膜瘤等相鉴别。     

胃肠道节细胞神经瘤6例临床病理分析

目的探讨胃肠道节细胞神经瘤的临床病理学特征,以提高对其的认识水平。方法回顾性分析6例胃肠道节细胞神经瘤的临床病理学特征和免疫表型,并复习相关文献。结果 6例患者中男性4例,女性2例,年龄43～72岁,平均55岁。肿瘤均位于结直肠,其中息肉样节细胞神经瘤4例,伴PTEN错构瘤综合征(PTEN hamartoma tumor syndrome, PHTS)的节细胞神经瘤性息肉病1例,伴神经纤维瘤病1型、神经内分泌瘤(neuroendocrine neoplasm, NET)和多发胃肠道间质瘤(gastrointestinal stromal tumors, GIST)的弥漫性节细胞神经瘤病1例。镜下见肿瘤由增生的Schwann细胞和散布其中的簇状、巢状排列的神经节细胞构成。Schwann细胞表达CD56、SOX-10、S-100蛋白,部分表达NSE、Syn、GFAP、NF,神经节细胞表达NSE、CD56、Syn、Calretinin、NeuN、S-100蛋白。结论节细胞神经瘤是胃肠道罕见的良性神经源性肿瘤,包含3个亚型:息肉样节细胞神经瘤、节细胞神经瘤性息肉病和弥漫性节细胞神经瘤病。各亚型具有独特的临床病理学特征,治疗应根据临床分型采取不同的处理方法,患者预后良好。     

微囊性/网状神经鞘瘤的临床病理特点

目的 探讨微囊性/网状神经鞘瘤的形态学和免疫表型特点及鉴别诊断.方法 收集1例发生在颈椎的微囊性/网状神经鞘瘤,根据HE切片和免疫组织化学染色观察形态学及免疫表型特点,并复习相关文献.免疫组织化学采用EnVision两步法.结果 患者男,35岁,因颈部不适就诊,影像学检查见颈5椎体破坏,肿块周围有硬化带,考虑良性病变.手术中见椎体破坏,肿瘤无包膜,结节状,质软,大小约3.5 cm×3.0 cm×1.8 cm.镜下观察,肿瘤无明确包膜,结节状分布,细胞学明确呈两种形态,一种类似于普通神经鞘瘤,但局灶细胞显示明显多形性,似神经鞘瘤伴退变,另一区域呈上皮样细胞,呈网状或蕾丝花边样排列,间质伴显著黏液变性.免疫组织化学示两种区域细胞表达一致,强阳性表达波形蛋白、S-100蛋白、胶质纤维酸性蛋白和神经元特异性烯纯化酶,散在表达CD68、CD10和Ki-67,不表达细胞角蛋白、上皮细胞膜抗原、神经微丝、癌胚抗原、平滑肌肌动蛋白、雌孕激素受体和p53.结论 微囊性/网状神经鞘瘤是神经鞘瘤的一种特殊形态学变型,临床罕见,发生在骨内更为罕见,熟悉其组织学特点和免疫表型有助于与脊索瘤和其他黏液性肿瘤或肉瘤鉴别.     

良、恶性外周神经鞘膜肿瘤新类型和少见亚型的病理诊断

外周神经肿瘤的类型和亚型繁多 ,组织形态多变 ,造成病理诊断、鉴别诊断的困难 ,尤其是恶性外周神经鞘膜瘤的诊断更为困难。本文就近年来有关良、恶性外周神经鞘膜肿瘤的新类型和少见亚型进行了文献复习 ,并简介如下 ,仅供同仁们参考。1　神经鞘瘤及亚型 (ｎｅｕｒｉｌｅｍｏｍａｏｒｓｃｈｗａｎｎｏｍａａｎｄｔｈｅｉｒｖａｒｉａｎｔｓ)神经鞘瘤是最常见的一种良性外周神经鞘膜肿瘤。一般不伴有神经纤维瘤病。罕见恶变 ,有报道发生血管肉瘤者。神经鞘瘤的亚型颇多〔1〕,下面仅就其中的几种重点介绍。1.1　细胞性神经鞘瘤 (ｃｅｌｌｕｌ…     

椎管内富于细胞性神经鞘瘤30例临床病理分析

目的探讨椎管内富于细胞性神经鞘瘤的临床病理学特征、免疫表型、诊断及鉴别诊断。方法回顾性分析中国科学技术大学附属第一医院2015～2019年诊断的,30例椎管内富于细胞性神经鞘瘤的临床和病理资料,并复习相关文献。结果 30例中女性21例,男性9例,年龄20～70岁,平均52岁。发病部位:腰椎14例,胸椎2例,颈椎2例,10例同时累及胸椎和腰椎,1例同时累及颈椎和胸椎,1例同时累及腰椎和骶椎。组织学特征:肿瘤细胞丰富密集,呈交织束状排列,缺乏或仅有小灶性Antoni B区。瘤细胞胞质丰富红染,境界不清,核呈梭形,核仁多不明显,少数细胞有轻～中度异型性,核分裂象可见(1～7个/10 HPF)。部分病例见厚壁血管伴玻璃样变性,可见血管周围淋巴套形成。常伴出血、囊性变及含铁血黄素沉积。免疫表型:30例SOX-10均阳性,28例S-100阳性;14例H3K27me3弥漫阳性,16例部分缺失(均小于50%)。26例患者获得随访,随访时间3～55个月,均未见复发和转移。结论椎管内富于细胞性神经鞘瘤相对少见,其细胞丰富,有一定异型性,核分裂象易见,易被误诊为恶性外周神经鞘膜瘤等多种恶性肿瘤,组织学结合免疫组化标记有助于其诊断及鉴别诊断。     

原发性肺内神经鞘瘤2例临床病理特征分析

目的 探讨原发性肺内神经鞘瘤的临床病理学特征。方法 回顾性分析2例原发性肺内神经鞘瘤的临床表现、组织学形态及免疫表型,并复习相关文献。结果 2例均为中老年患者,男、女性各1例,男性患者因体检发现肺部阴影就诊;女性患者因发现肺张力性病变就诊,病变分别位于左肺上叶和左肺下叶,最大径分别为2.2 cm和1.8 cm。镜下见瘤细胞与周围肺组织分界清楚,其内瘤细胞由稀疏区和密集区交替排列,少部分区域可见栅栏状结构,大部分区域瘤细胞呈洋葱皮样或漩涡状结构排列,可见Verocay小体结构。免疫表型：瘤细胞S-100、SOX10、vimentin、CD56、BCL-2和TTF-1均阳性,desmin、SMA、p63、Napsin A、CK5/6、GFAP、CKpan、EMA和STAT6均阴性,Ki-67增殖指数为3%～5%。术后分别随访5个月和13个月,均未见肿瘤复发或转移。结论 原发性肺内神经鞘瘤是一种良性的神经源性肿瘤,诊断需依靠病理检查及免疫表型,治疗以手术切除为主,预后良好。     

胃神经鞘瘤临床病理分析

目的：探讨胃神经鞘瘤（gastric schwannoma）的临床病理学特点、免疫表型、诊断及鉴别诊断。方法：对8例胃神经鞘瘤的临床特点、组织形态学和免疫组织化学结果进行分析,并复习相关文献。结果：患者女性5例,男性3例,平均年龄61岁（30~81岁）。8例胃神经鞘瘤直径1.0~7.0 cm（平均3.0 cm）,无包膜,切面灰白色,镜下,瘤细胞短梭形,束状、栅栏状排列,肿瘤的边缘见淋巴细胞套。免疫组织化学染色：S-100全阳性,胶质纤维酸性蛋白（glial fibrillary acidic protein,GFAP）7例阳性,CD117、CD34、Dog1、a-平滑肌肌动蛋白（a-Smooth muscle actin,a-SMA）、结蛋白（Desmin）阴性。3例发现血小板衍化生长因子受体（platelet-derived growth factor receptor,PDGFR）阳性,但未发现c-kit和PDGFRα的基因突变。结论：胃神经鞘瘤是一种良性肿瘤,需与胃肠道间质瘤鉴别。     

Plexiform schwannoma of the clitoris

Only three cases of clitoral schwannoma have been reported in the English language literature, with none of them being a plexiform schwannoma. Here we report the first plexiform schwannoma of the clitoris. A 41-year-old woman without neurofibromatosis presented with a 2 x 2 cm, slowly growing, painless tumor of the clitoris. Simple excision of the tumor was performed, and pathological examination revealed a plexiform schwannoma. No evidence of recurrence was noted after 2 years of follow-up. Despite its rarity, a schwannoma should be included in the differential diagnosis of a clitoral enlargement or mass. Our case, despite its unique plexiform growth pattern, has clinical features similar to those of other reported cases of clitoral schwannoma.     

Peripheral nerve sheath tumors of the breast

Benign and malignant peripheral nerve sheath tumors can involve the breast, presenting as masses in the dermis, deep breast parenchyma or axillary soft tissue. Although the histologic features are frequently characteristic, diagnosis can be challenging on core needle biopsy, and the differential diagnosis includes a variety of other benign and malignant spindle cell lesions of the breast. Here, we review the key clinical and pathological features of breast schwannoma, neurofibroma, granular cell tumor, and malignant peripheral nerve sheath tumor.     

Ⅰ期后入路手术切除胸椎神经源性哑铃型肿瘤的解剖学及其疗效

目的 探讨Ⅰ期后路经肋横突切除入路摘除胸椎哑铃型肿瘤的解剖学可行性和安全性。 方法 回顾2006.8-2011.10间收治的20例胸椎哑铃状肿瘤的临床资料,均采用单一后路Ⅰ期手术切除肿瘤。JOA评价神经功能,X线评估内固定和融合结果,MRI检查肿瘤切除彻底性和是否复发。 结果 肿瘤均完全切除,平均手术时间263min(152~420 min), 出血量480 ml (125~1770 ml )。Schwann细胞瘤9例,神经纤维瘤6例,脊膜瘤3例,神经节细胞瘤2;其中硬膜外12例、髓外硬膜下8例。随访末期神经功能显著改善,JOA恢复率72.9％;VAS评分由术前8.3±0.67改善为随访末期2.3±0.19;并发症包括胸膜破裂2例,肺不张和胸腔内脑脊液漏各1例。 结论 单一后方肋横突、椎板切除入路可以完整切除胸椎哑铃型肿瘤,适用于肿瘤与大血管、胸腔脏器粘连较轻者。     

Neurogenic Tumors of the Mediastinum

Neurogenic tumors represent a broad ill-defined category of neoplasms that includes tumors of Schwann cell and/or neuroblastic derivation, as well as neoplasms that typically develop in the central nervous system, but rarely present in ectopic sites including the mediastinum. Neurogenic tumors may occur at many different anatomic sites, but the mediastinum represents a uniquely challenging site given the complex anatomy. Additionally, some of these neoplasms may present with multicentric involvement in the context of genetic syndromes, including NF1, NF2 and schwanomatosis. Most of these develop in posterior structures, often in association with paraspinal structures. Fine needle biopsy/small biopsies play an important role in the diagnosis of these neoplasms, given its record of safety and the increased applicability of ancillary testing to these smaller samples at the present time. In this review we focus on the major categories of neurogenic tumors that may be encountered in the mediastinum, including schwannoma, neurofibroma, malignant peripheral nerve sheath tumors, ganglioneuroma and ganglioneuroblastoma, as well as rarer members of this category. We discuss diagnostic approaches applicable to small cytologic and tissue samples and relevant differential diagnoses.     

混合性嗜铬细胞瘤临床病理学特征分析

目的探讨混合性嗜铬细胞瘤(composite pheochromocytoma,CP)临床病理特征、免疫表型、诊断及鉴别诊断。方法收集2011年1月至2019年1月浙江省人民医院收治的5例CP,对5例CP的临床、影像学、组织学、免疫组织化学特征及预后进行观察,探讨其临床病理特征及鉴别诊断。结果CP患者中男性4例,女性1例,男女发病比例为4∶1,发病年龄52~68岁(平均年龄59岁,中位年龄54岁),肿瘤最大径3~4 cm(平均最大径3.6 cm,中位最大径3.5 cm);临床表现多为无明显症状的肾上腺肿块;典型的形态为两种成分组成,一种为瘤细胞呈不规则巢状排列,瘤细胞胞质细颗粒状、嗜碱性或双嗜性,核分裂象罕见;另一种为由不规则交叉束状排列的施万细胞及散在分布的神经节细胞组成;免疫组织化学示嗜铬细胞瘤弥漫表达PHOX2B(5/5)、突触素(5/5)、嗜铬粒素A(CgA,5/5),支持细胞S-100蛋白阳性(5/5),节细胞神经瘤弥漫表达S-100蛋白(5/5)、神经丝蛋白(5/5),其内神经节细胞PHOX2B、突触素、CgA弱阳性;5例均接受手术切除,预后良好,随访均无复发。结论CP较少见,临床表现不具有特异性,其具有独特的组织学特征,仔细的观察肿瘤的完整组织结构及免疫组织化学检测PHOX2B、CgA、突触素、S-100蛋白有助于其诊断和鉴别诊断。     

4例腺泡状软组织肉瘤临床病理分析及文献复习

目的：探讨腺泡状软组织肉瘤（alveolar soft-part sarcoma,ASPS）的临床病理学特征及其鉴别诊断。方法：对4例ASPS的临床资料进行回顾性分析,对标本进行组织病理学观察及免疫组织化学（免疫组化）研究。结果：患者3例为男性,年龄分别为30,25,27岁;1例为女性,34岁。发病部位4例均位于下肢深部软组织内。镜下肿瘤细胞排列成腺泡状或实性,细胞巢间可见窦状血管分隔,肿瘤细胞胞质丰富嗜酸,胞质内可见棒状结晶体。免疫组化：4例均TFE3阳性,3例MyoD1胞质阳性。1例患者随访15年后复发伴肺转移死亡,3例患者随访6个月无瘤存活。结论：ASPS是一种罕见的恶性肿瘤,青少年多见,结合临床、病理学特征及免疫组化,可做出正确诊断。鉴别诊断需除外腺泡状横纹肌肉瘤等血窦丰富的肿瘤,TFE3是该肿瘤的特异性标志物。     

Endoscopic ultrasound‐guided fine‐needle aspiration biopsy of gastric schwannoma: Cytomorphologic features and diagnostic pitfalls

Schwannoma rarely occurs in the stomach. We present a case of gastric schwannoma, which was initially evaluated by endoscopic ultrasound‐guided fine‐needle aspiration (EUS‐FNA) biopsy and confirmed by surgical resection. The patient was a 57‐years‐old woman with history of dyspepsia, who was found to have a large submucosal mass in the stomach. EUS‐FNA showed scant spindle cells with abundant lymphocytes. The spindle cells were immunoreactive with S100, while negative for CD117, desmin, and CD34. The lymphocytes were mixed B‐cells and T‐cells. Immunostaining, flow cytometry, and molecular testing showed no evidence of B‐cell lymphoma. The diagnosis of gastric schwannoma was confirmed by histopathological evaluation of the resected tumor. Gastric schwannoma has unique features of mixed spindle cells and lymphocytes. The tumor should be differentiated from other gastric mesenchymal tumors, and lymphoproliferative disorder is a pitfall.     

Abnormal pigmentation of schwannoma attributed to excess production of neuromelanin-like pigment

Five cases of non-melanotic pigmented schwannoma with excess accumulation of neuromelanin are presented. The tumors were composed basically of spindle or fusiform tumor cells, compatible with those of classical schwannoma, together with varying numbers of tumor cells containing various amounts of light brown or grayish pigment. Fontana-Masson stain demonstrated argentaffin granules in some tumor cells of each tumor and bleaching with potassium permanganate abolished argentaffin reaction. Ultrastructural examination demonstrated the granules contained fine particles with heterogeneous density, occasionally together with coarse granular materials or amorphous high-density areas, indicating lysosome or autophagosome. Neither typical melanosomes nor neurosecretory granules were detected. In immunohistochemistry, neurogenic markers as well as CD68 were expressed in most tumor cells in each case and various numbers of tumor cells were positive for Leu7 and CD34. Lysozyme was also frequently positive in tumor cells, especially in granular cells. HMB45 was not expressed in any of the cases. These findings indicate that these cases are schwannomas with abnormal accumulation of neuromelanin-like pigment.     

Single-stage removal of thoracic dumbbell tumors from a posterior approach only with costotransversectomy

Purpose

Thoracic dumbbell tumors are relatively rare, usually arising from neurogenic elements. Methods for surgical removal thereof remain controversial. The purpose of this study was to evaluate the surgical results of a single-stage posterior approach with laminectomy and costotransversectomy only for the management of thoracic dumbbell tumors.

Materials and Methods

Eight cases of thoracic large dumbbell tumor were analyzed retrospectively: seven men and one woman (mean age, 49 years). Pathologic findings included schwannoma in five patients, neurofibroma in two patients (Recklinghausen in one patient), and ganglioneuroma in one patient. All patients underwent single-stage removal of dumbbell tumors by a posterior approach followed by laminectomy and costotransversectomy combined with instrumentation. Clinical and radiologic outcomes were reviewed, thereafter.

Results

Operative time ranged from 185 to 420 minutes (mean, 313 minutes), with estimated blood loss ranging from 71 to 1830 mL (mean, 658 mL). Postoperative complications included atelectasis in one case. All patients had tumors successfully removed with no neurological deterioration. Spinal deformities were not observed in any patients at the last follow-up (mean, 52 months), with instrumentation.

Conclusion

Single-stage surgery with laminectomy and costotransversectomy may be useful for removing thoracic dumbbell tumors without a combined anterior approach.