原发性心脏瓣膜黏液样变性的超声特点

目的 通过对比超声心动图和术中病理改变,探讨原发性心脏瓣膜黏液样变性的超声特点.方法 对主动脉瓣、二尖瓣及三尖瓣中度以上瓣膜反流并行心脏瓣膜手术的1080例患者的超声心动图资料及病理结果进行回顾性对比分析,以术中病理结果为金指标,分别统计二尖瓣、主动脉瓣及三尖瓣原发黏液样变的例数,分析超声诊断与病理诊断的符合率及原发心脏瓣膜黏液样变的患病率,总结超声心动图特征.结果 经手术和病理证实原发性心脏瓣膜黏液样变性104例患者,患病率为9.62%.按累及瓣膜数统计共有受累瓣膜117处,超声心动图对所有黏液样变性病例均作出了血流动力学诊断(瓣膜反流,100%),对101处(86.3%)病变作出了形态学(瓣叶脱垂、瓣叶增厚、冗长)的描述,但病因提示性诊断仅2例.结论 超声心动图对原发瓣膜黏液变性有特征性表现并可在术前提示原发心脏瓣膜黏液样变的可能,为术前外科治疗方案的决策提供依据.     

髂骨软骨黏液样纤维瘤合并病理性骨折误诊1例分析并文献复习

目的 探讨软骨黏液样纤维瘤的影像诊断及临床特征.方法 左髂骨软骨黏液样纤维瘤合并病理性骨折l例,复习相关文献并分析临床、影像学及病理,探讨其诊断治疗及预后.结果 髂骨软骨黏液样纤维瘤比较少见,合并病理性骨折更是罕见,缺乏特征性影像学表现,术前诊断困难,需与骨巨细胞瘤、骨囊肿等疾病相鉴别,外科治疗为首选.结论 软骨黏液样纤维瘤影像诊断存在一定难度,外科治疗预后较好,但是术后复发率较高.     

1例儿童肝罕见组织学形态上皮样炎性肌纤维母细胞肉瘤的临床病理分析

采用光镜、免疫组织化学及荧光原位杂交等方法分析1例以微囊性、腺泡样及实性结构为主的儿童肝上皮样炎性肌纤维母细胞肉瘤(epithelioid inflammatory myofibroblastic sarcoma,EIMS)临床病理特征,结合文献复习,做出相应鉴别。患者为3岁女童,肝巨大占位。术后病理检查:镜下见肿瘤与肝组织界限较清,肿瘤主体部分呈疏密不均的微囊样或肺泡样结构,囊壁被覆多角形或短梭形上皮样细胞,囊腔内大量淋巴细胞、浆细胞、组织细胞浸润;局部上皮样细胞呈腺泡样至实性片状。免疫组织化学:上皮样细胞CK18、Vim、Desmin强阳性,ALK阴性,Ki-67指数约3%。综合分析后诊断为EIMS,术后9个月随访,患儿状况良好,无肿瘤复发等异常。本例特殊组织学形态EIMS,未见有文献报道描述,诊断主要依据形态学、免疫组织化学及分子检测,临床病理上需和多个肿瘤鉴别。治疗以手术扩大切除为主,需密切随访,进一步了解其生物学行为及预后。     

青年支气管黏液表皮样癌一例报告

目的 探讨支气管黏液表皮样癌的临床特征及诊治要点.方法 对我院1例支气管黏液表皮样癌的临床资料进行回顾性分析.结果 本例因间断咳嗽、咯血于外院诊断为支气管扩张,予相应治疗症状稍缓解但反复发作,病情加重入我院.经胸部CT及纤维支气管镜检查诊断为支气管腺瘤,行剖胸探查,术后病理诊断为支气管黏液表皮样癌(未转移),病情缓解出院.结论 支气管黏液样表皮样癌多为低度恶性,生长缓慢.影像学和支气管镜活检有利于早期诊断,手术是其首选治疗方法且预后良好.     

肺隔离症合并黏液表皮样癌临床病理观察

目的探讨肺隔离症合并黏液表皮样癌的临床病理特点.方法对1例肺隔离症合并黏液表皮样癌进行临床资料分析和光镜、免疫组化标记（SP法）观察.结果本例患者以间歇性咳血为主要症状,CT示左下肺团片状阴影,手术中见隔离肺有异常血管供应,病变肺组织呈慢性炎症和纤维增生改变.支气管内肿物由表皮样细胞、中间细胞及黏液细胞组成,巢状排列,其中含少量黏液样物.免疫组化示低分子质量CK强（＋）,EMA（＋）,高分子质量CK（-）,AB染色（＋）.结论肺隔离症合并黏液表皮样癌是一种极少见的肺组织病变,影像学和病理学检查是诊断的主要依据.     

乳腺黏液表皮样癌临床病理观察

目的探讨乳腺黏液表皮样癌的临床病理特征。方法对1例罕见的乳腺黏液表皮样癌进行临床病理分析及免疫组化研究,并复习相关文献。结果患者女性,69岁。左乳腺包块巨检为灰红色类圆形肿块,与周围界限清楚;镜下肿瘤组织结节分叶状,以表皮样细胞为主,混杂有中间细胞和黏液细胞,可见较多大小不等的囊腔,腔内有黏液,细胞异型性不明显,偶见核分裂。免疫组化示AE1/AE3、34βE12和E-cadherin弥漫（＋）,S-100局灶（＋）。结论乳腺黏液表皮样癌非常罕见,其组织形态学及生物学行为与涎腺黏液表皮样癌类似,确诊主要靠组织病理学,并辅以免疫组化标记,有时需要与腺鳞癌、腺样囊性癌或黏液癌鉴别。     

Warthin瘤上皮成分恶变为黏液表皮样癌2例临床病理观察

目的研究Warthin瘤上皮成分恶变为黏液表皮样癌的临床病理特征、鉴别诊断及分子生物学特点。方法采用组织化学、免疫组化方法,对2例Warthin瘤上皮成分恶变为黏液表皮样癌的病例进行分析,并结合国内外文献讨论。结果 2例患者均表现为腮腺无痛性肿块,镜下可见典型Warthin瘤区及向黏液表皮样癌过渡的移行区。1例为低级别黏液表皮样癌,另1例为中级别黏液表皮样癌。PAS染色胞质内及间质内浸润黏液呈紫红色。Warthin瘤内层柱状细胞CK7和CK19(+),外层细胞CK34βE12和p63(+),黏液化生细胞及黏液表皮样癌的黏液细胞CEA(+)。结论诊断Warthin瘤上皮成分恶变为黏液表皮样癌,除典型Warthin瘤、黏液表皮样癌结构外,必须出现两肿瘤的移行过渡区域。     

会厌黏液表皮样癌1例报告并文献复习

目的探讨会厌黏液表皮样癌的诊断与治疗。方法1例会厌黏液表皮样癌患者行舌骨下径路会厌及部分喉切除术。结果术后恢复良好。术后1个月后发现颈部及肺部肿瘤转移。结论会厌黏液表皮样癌主要通过病理活检来确诊,手术是最佳的治疗方法。     

妊娠合并宫颈黏液表皮样癌1例

妊娠合并宫颈癌最常规的病理组织学类型为鳞癌,约占90%,其次为腺癌、透明细胞癌,而宫颈黏液表皮样癌非常少见.现将本院妊娠合并宫颈黏液表皮样癌患者1例报道如下.     

黏液炎症性纤维母细胞肉瘤的临床病理学特征

目的 探讨黏液炎症性纤维母细胞肉瘤的病理形态学特征、免疫组化及鉴别诊断.方法 对1例发生于腋窝的黏液炎症性纤维母细胞肉瘤进行形态学观察及免疫组化标记,并结合文献复习.结果 肿瘤组织由炎症性区、黏液性区及纤维化区组成.最明显的特征是,有明显异型的肥胖的梭形细胞、神经节细胞样细胞、畸形的RS样细胞或病毒样细胞,还可见到脂母细胞样细胞.免疫组化示肿瘤细胞vimentin和CD68(+),淋巴细胞LCA、CD20和CD3(+),CD30、CD15、EMA、CK、SMA、desmin、S-100、HMB45和CD34均为(-).结论 黏液炎症性纤维母细胞肉瘤是一种罕见的主要发生于肢端软组织的低度恶性肿瘤,肿瘤细胞由变异的纤维母细胞衍化而来,具有独特的病理学特征.由于突出的炎症性背景及黏液样基质,极易误诊为炎症性病变及其他良、恶性肿瘤.肿瘤在局部呈侵袭性生长,复发率较高,临床应完整切除.     

Multi-lineage interrogation of the performance characteristics of a split-signal fluorescence in situ hybridization probe for anaplastic lymphoma kinase gene rearrangements: a study of 101 cases characterized by immunohistomorphology on fixed archival tissue.

BACKGROUND: Fluorescence in situ hybridization (FISH) can identify chromosomal translocations on fixed archival tissue, but studies cross-validating the utility of FISH on lesions of different cell lineages that harbor similar translocations (e.g. those involving anaplastic lymphoma kinase [ALK]) have not been published. AIM: Our objective was to define the diagnostic utility, performance characteristics, and limitations of a commercially available, split-signal, FISH probe for ALK gene rearrangements on fixed, archived tissue from lesions of diverse cell lineage. STUDY DESIGN: The sensitivity, specificity, and positive and negative predictive values of the Vysis ALK FISH probe were compared with those of the ALK-1 antibody (Dako) in a series of 101 cases, comprising 43 hematolymphoid neoplasms, 4 reactive lymphoid controls, 50 non-hematolymphoid (including neuroectodermal, epithelial, myofibroblastic, and germ cell) lesions, and 4 early-trimester aborted fetuses that served as neuroblastic controls. METHODS: The study involved a predominantly (72%) Singaporean Chinese population aged between 9 months and 88 years (excluding the aborted fetal controls). All cases were reviewed both histologically and immunohistochemically with a wide panel of antibodies using the standard protocols in order to diagnose them according to the latest WHO classification systems. A positive cut-off value was determined, both by comparison with diagnostic categories with and without ALK translocations, as well as with negative controls. RESULTS: The ALK FISH probe suffered a 33% non-informative rate, but in informative cases it showed 94% concordance with the ALK-1 immunostain. A minimum cut-off value of 5 in 200 informative cells was adopted to make a positive call in each case. Of the ALK-1 immunoreactive lesions, nine lymphomas were concordantly ALK translocation-positive but one vesical inflammatory myofibroblastic tumor was discordantly FISH-negative. Among the ALK-1-immunonegative lesions, one case each of anaplastic lymphoma and pulmonary mycobacterial spindle cell pseudotumor were discordantly ALK FISH-positive, while a case each of intestinal myeloblastic tumor and ganglioglioma showed initial--but not reproducible--positive FISH readings. The remaining cases were concordantly negative. DISCUSSION: The discrepancies between ALK FISH results and well-established immunomorphological parameters indicate that interpretation is not always straightforward. Notably, the derivation of threshold cut-off values for positive calls on FISH assays has seldom been addressed in the literature, and has raised issues in interpreting cases with borderline positivity in this study. The factors that may influence such cut-off values are extensively reviewed. CONCLUSIONS: We propose the term 'conditional threshold positivity' to encourage the adoption of different cut-off values for making positive calls in lesions of different origin.     

非小细胞肺癌EML4／ALK融合基因检测

目的建立荧光原位杂交方法（fluorescent in situ hybridization,FISH）检测EML4／ALK融合基因的方法。方法依据ALK和EML4断裂重排方式,设计、制备双色荧光探针。以人外周血培养细胞为检测对象评价EML4／ALK融合基因检测探针的灵敏度和特异性,以非小细胞肺癌（non-small cell lungcancer,NSCLC）组织样本为对象进行EML4／ALK融合基因检测探针的性能评价。结果本研究建立的FISH检测方法在人外周血培养细胞检测中的特异性和灵敏度均达到100％。在对10例NSCLC腺癌患者石蜡包埋组织样本检测中,筛查出1例EML4／ALKFISH阳性样本。结论本研究制备的双色荧光探针可用于非小细胞肺癌EML4／ALK融合基因检测。     

脾炎症性肌纤维母细胞瘤肝转移1例报告并文献复习

目的：探讨炎性肌纤维母细胞瘤的临床病理特点、鉴别诊断及预后。方法：观察分析1例脾炎症性肌纤维母细胞瘤术后4 a肝转移病例的临床病理特点及免疫表型,并对相关文献复习。结果：瘤细胞梭形,呈束状、旋涡状或席纹状排列,间质大量炎症细胞弥漫浸润,脾肿瘤细胞形态温和无明显异型,肝转移灶瘤细胞轻度异型,局部呈浸润性生长;免疫组化Vimentin、SMA阳性,ALK阴性。结论：炎性肌纤维母细胞瘤是少见肿瘤,诊断须依赖病理形态及免疫组化,大多预后较好，出现异型提示预后不良。     

子宫炎性肌纤维母细胞性肿瘤2例临床病理观察

目的 探讨子宫炎性肌纤维母细胞性肿瘤(IMT)的临床病理学特征、免疫表型、分子遗传学、鉴别诊断及治疗.方法 分析2例子宫炎性肌纤维母细胞性肿瘤的临床病理学特征,并结合相关文献进行复习.结果 ①临床资料:例1,39岁女性,发现盆腔包块8年余,月经量增多2年,经期及月经周期无明显变化.B超:子宫肌瘤,宫腔少量积液,后壁约5...     

儿童炎性肌纤维母细胞瘤11例临床病理分析

目的 探讨儿童炎性肌纤维母细胞瘤(IMT)的临床病理特征和免疫组化表型.方法 分析11例儿童炎性肌纤维母细胞瘤的镜下特征和免疫组化表达,并进行文献复习.结果 本组男性5例,女性6例,主要发生于腹、臀、肾上腺、颈及会阴,临床症状与部位相关.组织学显示梭形纤维母细胞和肌纤维母细胞疏密混杂排列,有黏液样基质及炎性细胞浸润.免疫组化:肿瘤细胞vimentin、SMA(+),desmin、NSE和MSA大部分(+);5例ALK-1(+),2例CK(+);S-100蛋白和CD34(-).结论 儿童IMT是一种常见的良性肿瘤,复发少见,但有恶变潜能.     

乳腺炎性肌纤维母细胞瘤临床病理观察

目的 探讨乳腺炎性肌纤维母细胞瘤的临床病理特征和鉴别诊断.方法 对1例乳腺炎性肌纤维母细胞瘤进行临床、组织学和免疫组化观察,并复习相关文献.结果 患者女性,62岁.左乳腺扪及一肿块8个月,边界尚清.组织学显示,黏液背景下瘤细胞以梭形细胞为主,细胞无异型性,核分裂象少见.间质内见大量淋巴细胞,浆细胞浸润,血管丰富,局部有胶原化.免疫组化:梭形细胞vimentin中等(+),SMA、actin和ALK(+);CK、34βE12、S-100、myogenin、MBP和CD34(-).结论 炎性肌纤维母细胞瘤是一种特殊类型的间叶性肿瘤,罕见于乳腺,应与梭形细胞癌、纤维瘤病、瘢痕、结节性筋膜炎等相鉴别.     

非小细胞肺癌表皮生长因子受体基因突变和EML4-ALK融合基因表达的研究

目的研究广西地区非小细胞肺癌(NSCLC)表皮生长因子受体(EGFR)基因突变和棘皮动物微管相关类蛋白4与间变性淋巴瘤激酶(EML4-ALK)融合基因表达的情况。方法分别采用扩增耐突变系统(ARMS-PCR)法和实时荧光定量PCR扩增检测119例NSCLC患者EGFR基因外显子18~21的突变和9种EML4-ALK融合突变体,同时分析其与临床病理特征的关系。结果 119例NSCLC患者共检出44例EGFR基因突变,检出率为37.0%,检出7例EML4-ALK融合基因阳性表达,检出率为5.9%。其中EGFR基因突变主要见于腺癌、女性、不吸烟患者;EML4-ALK融合基因表达可能与不吸烟有关,而在性别、年龄、肿瘤病理类型、淋巴转移方面比较,差异无统计学意义(P0.05);EGFR基因突变与EML4-ALK融合基因不共存。结论广西地区NSCLC患者的EGFR基因突变率与EML4-ALK融合基因阳性表达率与中国其他地区总体水平接近,均具有一定临床病理特征。     

Development of anaplastic lymphoma kinase (ALK) small-molecule inhibitors for cancer therapy

Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase (RTK) involved in the genesis of several human cancers; indeed, ALK was initially identified in constitutively activated and oncogenic fusion forms--the most common being nucleophosmin (NPM)-ALK--in a non-Hodgkin's lymphoma (NHL) known as anaplastic large-cell lymphoma (ALCL) and subsequent studies identified ALK fusions in the human sarcomas called inflammatory myofibroblastic tumors (IMTs). In addition, two recent reports have suggested that the ALK fusion, TPM4-ALK, may be involved in the genesis of a subset of esophageal squamous cell carcinomas. While the cause-effect relationship between ALK fusions and malignancies such as ALCL and IMT is very well established, more circumstantial links implicate the involvement of the full-length, normal ALK receptor in the genesis of additional malignancies including glioblastoma, neuroblastoma, breast cancer, and others; in these instances, ALK is believed to foster tumorigenesis following activation by autocrine and/or paracrine growth loops involving the reported ALK ligands, pleiotrophin (PTN) and midkine (MK). There are no currently available ALK small-molecule inhibitors approved for clinical cancer therapy; however, recognition of the variety of malignancies in which ALK may play a causative role has recently begun to prompt developmental efforts in this area. This review provides a succinct summary of normal ALK biology, the confirmed and putative roles of ALK fusions and the full-length ALK receptor in the development of human cancers, and efforts to target ALK using small-molecule kinase inhibitors.     

应用RT-PCR和荧光原位杂交监测急性早幼粒细胞白血病微小残留白血病

目的应用RT-PCR和荧光原位杂交技术(FISH)检测急性早幼粒细胞白血病(APL)患者体内PML-RARα融合基因的表达,监测患者体内微小残留白血病的情况。方法采用全反式维甲酸(ATRA)和三氧化二砷(As2O3)联合治疗APL,运用RT-PCR和FISH技术检测和分析APL患者体内诱导缓解后及巩固维持治疗后PML-RARα融合基因。结果 46例APL患者PML-RARα融合基因均为阳性,其中34例患者在诱导化疗结束达完全缓解后检测,25例(73.5%)患者基因检测呈阴性,9例(26.5%)患者RT-PCR和/或FISH检测阳性,融合基因阳性和阴性复发APL的预测值分别为44.4%和4.3%;31例再经ATRA及As2O3巩固及维持治疗后,27例患者达到分子生物学缓解,无复发病例,4例融合基因阳性患者,3例复发APL,其复发APL的阳性预测值为75%。结论 RT-PCR和FISH技术是非常有效的监测APL患者体内微小残留白血病的实验方法,其对疾病的诊断、治疗及预后评估具有重要临床价值。