恶性外周神经鞘膜瘤中 TBX2 基因突变及相关蛋白 表达的临床意义

  目的  检测恶性外周神经鞘膜瘤基因组异常并探讨TBX2、CHK2和p53在恶性外周神经鞘膜瘤中的表达及其临床意义。  方法  收集天津医科大学肿瘤医院骨与软组织肿瘤科1991年1月至2011年12月手术切除并经病理证实的恶性外周神经鞘膜瘤组织标本63例。从中选取新鲜且DNA质量合格的肿瘤样本12例,采用第二代测序(next-generation sequencing,NGS) 方法,检测人恶性外周神经鞘膜瘤组织样本基因组异常情况。应用免疫组织化学方法检测63例恶性外周神经鞘膜瘤组织样本中TBX2、CHK2和p53的表达情况。  结果  12例恶性外周神经鞘膜瘤组织样本中,有1例TBX2基因突变。63例恶性外周神经鞘膜瘤组织样本中,TBX2、CHK2和p53的高表达率分别为60.3%(38/63) 、47.6%(30/63) 及30.2%(19/63) 。TBX2的高表达与AJCC分期、复发和转移有显著相关性(P＜0.05) ;TBX2的表达与CHK2的表达呈正相关(r=0.254,P=0.045) ,CHK2的表达与p53的表达呈正相关(r=0.343,P=0.006) 。高表达TBX2、CHK2和p53的无病生存时间及总生存时间均显著低于低表达组(P＜0.05) ,且TBX2、CHK2和p53均为恶性外周神经鞘膜瘤的独立预后因素。  结论  TBX2及其相关蛋白的表达可能在恶性外周神经鞘膜瘤发生发展过程中起重要作用,检测其表达有望为MPNST预后提供理论依据。       

腮腺区面神经鞘瘤2例误诊报告

神经鞘瘤是来源于神经鞘的神经源性良性肿瘤,全身均可发生.在头颈部,以交感神经和迷走神经居多,面神经较少.多数面神经鞘瘤累及面神经鼓室部或垂直部,9%位于腮腺内,在腮腺区肿瘤中发生率为0.2～1.5%,临床上易被误诊.我们近期发现2例,现报告如下.     

面颊部恶性神经鞘瘤1例

恶性神经鞘瘤（Malignant peripheral nerve sheath tumor，MPNST）原发于神经鞘，或继发于神经纤维瘤，后者恶变率约为2．4％-2．9％。临床上恶性神经鞘瘤较少见，发生于面部的恶性神经鞘瘤国内也仅有个别报道。我科收治一例面颊部恶性神经鞘瘤，现报告如下。     

显微手术治疗马尾神经鞘瘤30例临床分析

[目的]探讨马尾神经鞘瘤的临床特点、鉴别诊断与手术技巧.[方法]回顾性分析手术治疗的30例马尾神经鞘瘤患者的临床资料.[结果]本组中大多数患者首发症状为单下肢疼痛麻木(18例),其中6例伴腰背部疼痛,5例表现为双下肢疼痛麻木伴腰背部疼痛,6例表现为单纯腰背部疼痛,1例表现为蛛网膜下腔出血.所有患者均经胸腰椎MRI增强扫描确诊,单发神经鞘瘤27例,其中3例神经鞘瘤在椎管内外生长成哑铃型,多发神经鞘瘤3例.所有患者均完整切除肿瘤,术后除1例患者临床症状加重外,其余患者临床症状均明显改善,短期随访未见复发.[结论]马尾神经鞘瘤的主要表现为腰背部和下肢疼痛麻木,查体显示双侧或单侧多根神经损伤,但首发症状可不典型;MRI增强有助于早期诊断;外科手术完整切除肿瘤效果良好.     

升结肠神经鞘瘤诊治1例报道

0 引言 神经鞘瘤是来源于神经鞘细胞常见的软组织肿瘤,又名Schwannoma,常发生于头面部、四肢末端神经及中枢神经系统,亦可见于皮下组织、腹膜腔、纵隔等部位,然而胃肠道的神经鞘瘤相对甚少,结肠部位则尤为罕见.有研究报道称胃肠道神经鞘瘤的发病率仅为所有胃肠道肿瘤的0.4％～1％[1].本院于2009年12月收治1例升结肠神经鞘瘤,现报道如下. 1 临床资料 患者,男,58岁,因右下腹阵发性疼痛伴腹胀1月余入院,诉1月前无明显诱因出现右下腹阵发性疼痛伴腹胀,可自行缓解.     

恶性神经鞘瘤-光镜和电镜研究

电镜对研究人类肿瘤的组织学发生很有价值,在软组织恶性肿瘤的鉴别诊断上也提供了证据。作者收集3例恶性神经鞘瘤,年龄为2、53和55岁,肿瘤部位分别为左趾背侧、直肠旁左侧、后上胸壁,观察其     

8例舌根部神经鞘瘤的诊治体会

[目的]探讨舌根部神经鞘瘤的诊断与治疗。[方法]回顾性分析8例舌根部神经鞘瘤的临床资料。根据肿瘤的扩展和波及范围不同．选择相应的手术径路进行切除,并观察其疗效。[结果]对6例患者选择口内径路联合口底-舌根矢状切开术切除肿瘤,2例患者选择舌骨上肿瘤切除术。术后均确诊为舌根部良性神经鞘瘤：随访至今,术后症状全部消失,无复发。[结论]对突向口底的神经鞘瘤的手术,可选择口内径路联合口底-舌根矢状切开术．对突向咽腔的神经鞘瘤则可选择舌骨上径路肿瘤切除术,本病预后良好。     

舌部神经鞘瘤4例报告

舌部神经鞘瘤极少。我院在34 000例活检标本中发现4例,报告如下。例1 女性,28岁,已婚。舌体部发现一肿块已1年。初发现时如绿豆大,近3月来肿块增长较快,且影响咀嚼。查体:舌体部有一板栗大肿块,灰红色,质地较硬,边界清楚,肿块突出于舌表面,表面呈乳头状。临床诊断为乳头状瘤。病理检查肿块2×1.5cm,灰红色,大部分有包膜,质地较硬,切面灰红色。镜下:瘤组织主要由排列紧密的长梭形细胞构成,细胞界限多不清楚,细胞染粉红色,核较细长,核染色质较致密,核仁不清楚,瘤细胞有典型的栅栏状排列。病理诊断:舌体神经鞘瘤。例2 男性,22岁,未婚。进行性声嘶4年。临床见左声带麻痹,舌根部有一肿块约2×2cm大小,质地较     

头颈部神经鞘瘤275例临床分析

目的:对头颈部神经鞘瘤进行临床分析.方法:1969年7月～2002年9月共收治头颈部神经鞘瘤342例,占全身神经鞘瘤的58.6%(342/584),随访275例,随访率80.4%.结果:术前诊断为神经鞘瘤者仅为184例,误诊率为33.1%(91/275).本组7例复发(包括3例恶性),肿瘤发生最多的神经为交感神经、臂丛神经和迷走神经.结论:神经鞘瘤60.0%左右发生在头颈部.绝大部分为良性,恶性极少(3/275).主要治疗方法为手术,恶性神经鞘瘤对放、化疗不敏感,预后差.     

肾上腺神经鞘瘤的诊断与治疗

目的 探讨肾上腺神经鞘瘤临床特征及其诊断、治疗和预后.方法 回顾我院4例经病理证实的肾上腺神经鞘瘤患者的病历资料、实验室的检查结果以及影像学检查情况,分析该病的临床病理特征及治疗方法.结果 本组4例均行完整的手术切除.病理确诊均为肾上腺神经鞘瘤,术后随访18月未见复发和转移.结论 肾上腺神经鞘瘤是一种良性肿瘤,临床罕见,预后良好.完整的手术切除是主要的治疗方法.     

抑癌基因 P~(53)蛋白在78例软组织肉瘤的表达

本研究应用Ｐ５３蛋白单克隆抗体对７８例软组织肉瘤行免疫组化染色，并对各种软组织肉瘤组织中Ｐ５３蛋白的表达进行了分析研究，结果发现全部病例Ｐ５３总阳性率为４３．５％，在脂肪肉瘤（４７．０％）中阳性率较高，而平滑肌肉瘤（７．１４％）中阳性率较低。Ｐ５３蛋白阳性表达与肉瘤组织分化程度有关，分化愈低其阳性率愈高，且在不同类型肉瘤中有一定差别，说明Ｐ５３抑癌基因突变在软组织肉瘤发生发展过程中起着重要作用。     

Demonstration of ras and p53 Gene Mutations in Carcinomas in the Forestomach and Intestine and Soft Tissue Sarcomas Induced by N-Methyl-N-nitrosourea in the Rat

The presence of ras family and p53 gene mutations in rat forestomach, intestine and liver tumors and soft tissue sarcomas induced by N methyl- N -nitrosourea (MNU) was examined using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) followed by direct sequencing analysis. In the forestomach squamous cell carcinomas (SCC), Ha- ros and p53 mutations were detected in 2 (40%) and 4 (80%) of 5 cases, respectively. The figures for Ki- ras and p53 gene mutations in adenocarcinomas of the large and small intestines were 3 (18.8%) and 5 (31.3%) of 16 cases. Soft tissue sarcomas in different sites were found to have mutations of Ki- ras in 7 (23.3%)and of p53 in 9 (30%) of 30 cases. One forestomach SCC and 2 soft tissue sarcomas had double p53 mutations in different exons. Single cases of forestomach SCC and intestinal adenocarcinoma had mutations in both Ki- ras and p53 genes. No mutations were found in counterpart benign tumors or hepatocellular adenomas. The p53 mutation spectrum revealed preferential clustering within exon 8 for the forestomach SCCs, and exons 5 and 8 for the intestinal adenocarcinomas, whereas the distribution was evenly spread through exons 5 to 8 in soft tissue sarcomas. All the detected ras or p53 mutations were G:C to A:T transitions. These results indicate firstly that specific Ki- ras , Ha- ras and p53 gene mutations in MNU-induced lesions are related to particular alkylation sites (G:C to A:T transitions) and secondly, although not essential, Ki- ras , Ha- ras or p53 gene mutations may be involved in the progression stage of forestomach, intestine and soft tissue neoplasms induced by MNU.     

软组织肉瘤中p53基因的突变和蛋白的表达研究

目的检测软组织肉瘤中p53基因的突变和蛋白的表达情况。方法应用PCR-SSCP和DNA测序的方法检测p53基因的突变,免疫组织化学技术Envision二步法检测p53蛋白的表达。结果 63例软组织肉瘤中检测到p53基因突变18例（28.6%）,突变位点主要在第6外显子和第7外显子,突变和组织学分级间无明显相关性;63例p53蛋白的表达44例,蛋白的表达与组织学分级间无明显相关性;且p53基因的突变与p53蛋白的表达无明显相关性。结论 p53基因的突变和p53蛋白的表达可能作为软组织肉瘤发生的一个重要因素。     

Diagnostic accuracy and limitations of fine‐needle aspiration cytology of bone and soft tissue lesions

BACKGROUND:

Fine‐needle aspiration (FNA) cytology is increasingly being used as a diagnostic modality for soft tissue and bone lesions. These diagnoses can be challenging because of a variety of factors, including interpretation and sampling issues. This study investigates the diagnostic utility of FNA biopsy, in addition to the diagnostic pitfalls, in soft tissue and bone cytopathology.

METHODS:

We retrospectively reviewed the soft tissue and bone FNAs over a 4‐year period (2004‐2008), along with available ancillary studies, pathological follow‐up, and clinical data. The cases with a cytologic‐histologic discrepancy were then reviewed.

RESULTS:

A total of 1114 soft tissue and bone FNAs were identified. Of the 1114 aspirates, 525 (47%) were positive for malignant cells, 505 (45.5%) were benign aspirates (including 189 benign lesions/neoplasms), 37 (3.5%) were inadequate, 34 (3%) had atypical cells, and 13 (1%) were suspicious for malignancy. Of the 586 cases (53%) with follow‐up, including 445 cases with histological follow‐up and 141 with ancillary studies, the overall sensitivity was 96%, the specificity was 98%, the positive predictive value was 99%, and the negative predictive value was 92%. A total of 15 false negatives and 3 false positives were identified with errors because of sampling (9 cases), interpretation (7 cases), and screening (2 cases).

CONCLUSIONS:

This large series demonstrates that there can be a high sensitivity and specificity in diagnosing bone and soft tissue lesions by FNA. Our data supports prior studies in the literature in showing that FNA cytology can be a valuable method for diagnosing these lesions. Cancer (Cancer Cytopathol) 2010. © 2010 American Cancer Society.     

Clinical Features and Mid-Term and Long-Term Outcomes of Surgical Treatment of 8 Patients with Primary Ventricular Tumors

OBJECTIVE To summarize the clinical features and surgical treatment of primary ventricular tumors. METHODS Eight patients with primary ventricular tumor, aged 3 to 52 years, underwent surgical treatment. There were 6 males and 2 females. The pathological diagnoses were as follows: multiple left ventricular myxomas in 2 cases; left ventricular rhabclomyoma, fibroma and malignant neurolemmoma in 1 case for each; right ventricular myxoma and malignant neurolemmoma in 1 case for each; intraseptal fibroma in 1 case. The operations were performed through median sternotomy with moderate hypothermic cardiopulmonary bypass in 7 cases; via left anterolateral thoracotomy without extracorporeal circulation in 1 case. Tumors were totally removed in 7 cases and subtotally resectecl in 1 case. RESULTS Cardiac arrest after anaesthetization occurred in 1 case with postoperative coma for 10 days. One case died of massive gastro-intestinal hemorrhage postoperatively. Seven cases survived, During a follow-up period of 1 to 21 years, there was no recurrence or metastasis in the 6 cases who received complete tumor resection including 2 cases with malignant tumor. One case of partial tumor removal had a mild heart murmur without tumor progression. All patients were asymptomatic with cardiac functiongrade I. CONCLUSION Primary ventricular tumors showed diversity in their histological characteristics. The mid- and long-term outcomes of surgical treatment for primary ventricular tumors appear to be satisfactory.     

Primary sarcomas of the lung: a clinicopathologic study of 12 cases

BACKGROUND: Chest physicians have a limited experience of primary pulmonary sarcomas, which represent a particular entity among rare intrathoracic neoplasms. DESIGN: Retrospective review of medical records. PURPOSE: To study patients with primary sarcomas of the lung diagnosed in our pathology department in order to define their clinical characteristics, treatment, and prognosis. PATIENTS: The study group consisted of 12 patients, with a mean age of 53 years. RESULTS: The main symptoms were chest pain, and cough. Imaging findings consisted of: eight single peripheral opacities, three single parahilar opacities, and one lobar actelectasis. The histologic diagnoses confirmed in all cases by detailed immunohistochemical study were leiomyosarcoma (7), monophasic synovial sarcoma (2), one case each of malignant peripheral nerve sheath tumor (MPNST), epithelioid sarcoma, and malignant fibrous histiocytoma. Thoracic surgery done in nine cases consisted of six lobectomies with further parietal resection in two cases, and three pneumonectomies. Four patients received chemotherapy and two patients had radiation therapy postoperatively. Follow up available on 12 patients ranged from 3 to 144 (mean 42) months. Long term survival up to 3 years was observed in five patients. Median overall survival was 48 months. Overall 5-year survival rate was 38%. CONCLUSIONS: Primary sarcomas of the lung are a rare and aggressive malignancy. Treatment and prognosis do not differ from other soft tissue sarcomas.     

Soft tissue aspiration cytopathology

BACKGROUND: Fine-needle aspiration (FNA) biopsy as a diagnostic modality for the pathologic evaluation of soft tissue neoplasms and non-neoplastic soft tissue mass lesions is uncommon and controversial. This procedure contrasts with more traditional diagnostic methods such as marginal excision, incisional (open) biopsy, or even core biopsy to procure tissue from somatic sites. METHODS: The authors reviewed the results of cytopathologic diagnoses obtained by fine-needle aspiration biopsy over a consecutive 11-month period in patients that presented primarily with a palpable soft tissue mass. A few patients with deep non-palpable soft tissue masses also were evaluated by radiologically guided FNA. Cytopathologic diagnoses were verified by different means including tissue examination either by concurrent cell block or subsequent surgical biopsy, flow cytometry, clinical outcome, or repetition of the FNA procedure. Patients were followed for a minimum of one year to evaluate the mass clinically, to determine whether any further therapy was administered, and to assess disease status. RESULTS: Eighty-two aspirates were performed without complications from 77 patients ranging from 12-88 years of age (mean = 50 yrs.) with men outnumbering women 1.5:1. Soft tissue masses were most common in the extremities (41 cases), followed by the trunk (34 cases), retroperitoneum (5 cases), and head and neck (2 cases). Fine-needle aspirates were diagnosed as malignant in 42 (51%), benign in 32 (39%), nondiagnostic in 6 (7%), and atypical in 2 (2%) cases. Malignant aspirates were comprised of 24 sarcomas (57%), 9 carcinomas (21%), 6 malignant lymphomas (14%), and 3 melanomas (7%). Twenty-two aspirates (52%) had an initial diagnosis of malignancy, whereas 18 (43%) represented metastatic and 2 (5%) recurrent neoplasms. Confirmation of the cytopathologic diagnosis was by concurrent or subsequent tissue examination in 57%, flow cytometry in 5%, clinical outcome in 34%, and repeat aspiration in 4%. One false negative and no false positive diagnoses were issued for a sensitivity and specificity of 100% and 97% respectively in distinguishing benign and malignant lesions by FNA. Of the malignant aspirates, 83% could be subtyped whereas 72% of benign aspirates were correctly subtyped. For primary soft tissue sarcomas, 12 of 19 (63%) were accurately subtyped. In 48% of cases a concurrent cell block was obtained and found diagnostically useful in 54% of them. CONCLUSIONS: Aspiration cytopathology of soft tissue mass lesions using FNA biopsy can be an accurate and minimally invasive method for the initial pathologic diagnosis of primary benign and malignant soft tissue masses, for the pathologic confirmation of metastatic tumors to soft tissue, and for the documentation of locally recurrent soft tissue neoplasms. FNA cytopathology is capable of specifically subtyping a large percentage of primary and metastatic soft tissue tumors if cellular material either in the form of a cell block or flow cytometry is obtained in addition to cell smears.     

8例原发性心室肿瘤外科治疗的中远期效果

目的：介绍原发性心室肿瘤的临床特点和外科治疗体会方法：自1981年10月至2001年7月外科治疗原发性心室肿瘤8例，男6例，女2例，年龄3～52岁其中左心室多发性粘液瘤2例，左心室横纹肌瘤、纤维瘤和恶性神经鞘瘤各1例，右心室粘液瘤和恶性神经鞘瘤各1例，室间隔纤维瘤1例。胸部正中切口、中度低温体外循环下手术7例，左前外切口、非体外循环下手术1例肿瘤摘除或完全切除7例，大部切除1例结果：麻醉后心跳骤停1例，术后昏迷10天，经综合治疗痊愈术后因消化道大出血死亡1例，存活7例，随访1～21年，肿瘤完全切除的6例无复发和转移，大部切除的1例残留轻度心脏杂音，肿瘤无进一步生长，所有患者均无临床症状，心功能Ⅰ级。结论：原发性心室肿瘤的组织学类型呈现多样性，外科治疗的中远期效果良好。