本文關(guān)鍵詞： 原始神經(jīng)外胚葉瘤 免疫組織化學(xué) EWSR1 隨訪　出處：《復(fù)旦大學(xué)》2014年碩士論文　論文類型：學(xué)位論文

【摘要】：目的：研究原始神經(jīng)外胚葉腫瘤家族(peripheral primitive neuroectodermal tumor family, PNET family)疾病的診斷與鑒別診斷,免疫組織化學(xué)表達特征、特異性染色體易位及預(yù)后的相關(guān)因素。方法：1)收集中山醫(yī)院2006年6月～2013年4月手術(shù)切除標(biāo)本并且病理診斷為原始神經(jīng)外胚葉腫瘤(peripheral primitive neuroectodermal tumor, PNET)/尤文肉瘤 (Ewing's sarcoma, ES)/Askin瘤(發(fā)生于胸肺部的PNET)的病例34例,該組病例均經(jīng)本科室2位主任醫(yī)師閱片,確診為PNET家族腫瘤。2)選取腫瘤組織代表性區(qū)域,制作組織芯片。3)應(yīng)用EnVison法檢測CD99、Vim、NSE、CD117、Clusterin、WT-1、TTF-1、 CD138、P53、CD56、CD57、CD10、ALK(D5F3)、ALK(P80)、D2-40、CEA、S100、 SYN、KI67、HMB45、CK廣、Des、CD44、Myogenin、EMA、PLAP、OPN、MDM2、IL2、 FOXM1、GNAT3、ERCC-1、GS、HSP70、Survivin、CyclinD1、HBME-1、CK5/6、NF、 CHG、GFAP、TDT、β-tubulin、β-catenin、VS38C、LCA、P63、bcl-248種抗體的表達情況。4)利用Vysis公司的EWSR1雙色異位分離探針,使用熒光原位雜交(FISH)方法檢測EWSR1基因的易位。使用經(jīng)FDA認(rèn)證的ALK雙色分離探針試劑盒(Vysis LSI ALK Dual Color, Break ApartRearrangement Probe, Abbott Molecular)對免疫組化ALK(D5F3)為強陽性的3例病例行EML4-ALK融合基因FISH檢測。5)所有病例進行電話和信件隨訪。6)結(jié)合臨床資料、免疫組化結(jié)果及隨訪結(jié)果進行統(tǒng)計學(xué)分析。結(jié)果：1)34例患者中男性21例,女性13例,年齡10～85歲,中位年齡25歲。病變分別位于骨與關(guān)節(jié)(6例)、軟組織(8例)、胸肺部(5例)、腎臟(5例)、咽部(1例)、盆腔(1例)、腹膜后(1例)、胼胝體(1例)以及其他部位(6例)。2)病理形態(tài)上腫瘤細(xì)胞主要為小圓細(xì)胞,核圓形或卵圓形,染色質(zhì)凝聚深染,可見小核仁；胞質(zhì)稀少或不清；細(xì)胞多呈分葉狀或片狀排列,小葉間為粗細(xì)不等的纖維結(jié)締組織間隔；可形成特征性的Homer-Wright菊形團,其軸心為神經(jīng)纖維物質(zhì),而非血管：出血及壞死常見。3)主要免疫組化結(jié)果：CD99陽性率為97%(33/34),NSE陽性率為100%(34/34),VIM陽性率為100%(34/34), Clusterin日性率為85%(29/34), β-catenin陽性率為94%(32/34),CD117陽性率為79%(27/34)。此外,發(fā)現(xiàn)WT-1陽性率為15%(5/34)、TTF-1陽性率為6%(2/34)、VS38C陽性率為88%(30/34)、CD138陽性率為38%(13/34)。ALK(D5F3)陽性率38%(13/34),其中3例為強陽性表達。4)34例病例中FISH觀察30例有EWSR1基因的易位(陽性率為88%)。3例強陽性表達ALK(D5F3)病例行FISH檢測EML4-ALK融合基因,結(jié)果均為陰性。5)34例病人中26例有完整隨訪資料,其中18例死亡,1年生存率為68%,2年生存率為56%,4年生存率為34%,5年生存率為6%。原始神經(jīng)外胚葉腫瘤家族中PNET預(yù)后較好,而Askin瘤預(yù)后較差,ES居中(P=0.014)�；颊吣挲g小于19歲及女性預(yù)后相對較好,其他指標(biāo)與預(yù)后的關(guān)系統(tǒng)計學(xué)結(jié)果顯示差異不顯著。結(jié)論：PNET家族腫瘤是一組好發(fā)于年輕人的高度惡性的軟組織肉瘤。CD99為經(jīng)典的診斷指標(biāo),另外Clusterin、β-catenin、CD117等免疫組化指標(biāo)的高表達可協(xié)助診斷,WT-1、TTF-1、VS38C、CD138等偶爾表達可能會干擾病理診斷。利用FISH檢測PNET家族腫瘤的石蠟包埋組織中EWSR1基因易位可作為可靠的分子診斷指標(biāo)。PNET的預(yù)后較ES和Askin瘤好。
[Abstract]:Objective: To study the primitive neuroectodermal tumor family (peripheral primitive neuroectodermal tumor family, PNET family) in diagnosis and differential diagnosis of the disease, the expression of the immunohistochemical features and related factors of specific chromosome translocation and prognosis. Methods: 1) collected from Zhongshan hospital from June 2006 to April 2013 and the resected specimens of pathological diagnosis of primitive neuroectodermal tumors (peripheral primitive neuroectodermal tumor, PNET) / (Ewing's sarcoma, ES of Ewing's sarcoma (/Askin) tumor occurred in lung PNET) 34 cases, the patients were treated by 2 Department chief physician slides, diagnosed as PNET family of tumor.2) tumor tissue selected representative regions, the production of tissue chip.3 application of EnVison method) to detect the CD99, Vim, NSE, CD117, Clusterin, WT-1, TTF-1, CD138, P53, CD56, CD57, CD10, ALK (D5F3), ALK (P80), D2-40, CEA, S100, SYN, KI67, HMB45 CK, Des, CD44, Myogenin, EMA, PLAP, OPN, MDM2, IL2, FOXM1, GNAT3, ERCC-1, GS, HSP70, Survivin, CyclinD1, HBME-1, CK5/6, NF, CHG, GFAP, TDT, -tubulin, beta, beta -catenin, VS38C, LCA, P63, bcl-248 antibody expression.4 Vysis, EWSR1) using dual color separation ectopic probe using fluorescence in situ hybridization (FISH) method for the detection of EWSR1 gene translocation. The use of FDA certified ALK dual color separation Probe Kit (Vysis LSI ALK Dual Color, Break ApartRearrangement Probe, Abbott Molecular) on ALK immunohistochemistry (D5F3) is strong 3 of the positive patients received EML4-ALK detection of the FISH fusion gene.5) all of the cases were followed up for.6 calls and letters) combined with clinical data, immunohistochemical results and follow-up results were statistically analyzed. Results: 1) in 34 patients, male 21 cases, female 13 cases, age 10~85 years, median age of 25 lesions. Located in bone and joint (6渚，

本文編號：1468376