SarcomasinPediatricAgeGroup

幼年較常見的肉瘤Rhabdomyosarcoma橫紋肌肉瘤

(45%)PNET/extraskeletalEwing’ssarcoma原始性神經(jīng)外胚層瘤或骨外尤文肉瘤

(22%)MPNST惡性神經(jīng)鞘瘤

(8%)Synovialsarcoma滑膜肉瘤

(5%)Leiomyosarcoma平滑肌肉瘤

(3%)Fibrosarcoma纖維肉瘤

(2%)Extrarenalrhabdoidtumor腎外橫紋肌樣瘤

(2%)Alveolarsoftpartsarcoma腺泡狀軟組織肉瘤(1%)OthersS-100proteinCD34VimentinCytokeratin(Cam5.2)Cytokeratin(AE1/3)CD99SmoothmuscleactinNeuron-specificenolaseChromograninSynaptophysinImmunohistochemistry

免疫組化Cytokeratin+Vimentin+CD99+Neuron-specificenolase/chromogranin/synaptophysin+(focal)Smoothmuscleactin+(focal)S-100protein/HMB45-CD34/CD31-bcl-2-Desmin-p63-Calretinin-Cytokeratin-positivityinSoftTissueLesions

細胞角蛋白呈陽性的軟組織病變Metastaticcarcinoma/mesothelioma轉(zhuǎn)移性癌或間皮瘤Chordoma脊索瘤Synovialsarcoma滑膜肉瘤Epithelioidsarcoma上皮樣肉瘤Epithelioidhemangioendothelioma/angiosarcoma上皮樣血管內(nèi)皮瘤或血管肉瘤Desmoplasticsmallroundcelltumor結(jié)締組織增生性小細胞瘤Mixedtumor混合瘤/myoepithelioma肌上皮細胞瘤

/parachordoma副脊索瘤Reticulumcellsarcoma網(wǎng)狀細胞肉瘤Adamantinomaoflongbones長骨釉質(zhì)瘤PNET/extraskeletalEwing’ssarcoma

原始性神經(jīng)外胚層瘤或骨外尤文肉瘤RaresarcomaswithaberrantcytokeratinexpressionElectronmicroscopy電鏡Paranuclearwhorlofintermediatefilaments成旋渦狀的中絲聚于核周胞漿Electronmicroscopy電鏡Intermediatefilamentsadmixedwithscantyfreeribosomes中絲混和自由的核糖體Electronmicroscopy電鏡IntermediatefilamentsadmixedwithrER中絲混和粗面內(nèi)漿網(wǎng)Electronmicroscopy電鏡Whorlofintermediatefilaments中絲成旋渦狀Electronmicroscopy電鏡Shortbundlesoftonofilaments短束狀的張力微絲Electronmicroscopy電鏡Tonofilaments&primitivecelljunction張力微絲與原始性的細胞接連Electronmicroscopy電鏡Abortivecytoplasmicprocesses不興旺的胞漿突起ElectronMicroscopy電鏡Paranuclearwhorlsofintermediatefilaments成旋渦狀的中絲聚于核周胞漿(8–10nmindiameter),associatedwithmitochondria線粒體,lipidglobules脂滴,lysosomes溶酶體,rER粗面內(nèi)漿網(wǎng)&freeribosomes自由的核糖體Shortbundlesoftonofilaments短束狀的張力微絲Abortivecytoplasmicprocesses不興旺的胞漿突起Primitivecelljunctions原始性的細胞接連HistologicDifferentialDiagnosis

組織學(xué)鑒別診斷Epithelioidsarcoma上皮樣肉瘤(conventional慣常型vs.“proximal-type〞中央型)Extrarenalrhabdoidtumor腎外橫紋肌樣瘤Metastaticcarcinoma轉(zhuǎn)移性癌EpithelioidSarcoma上皮樣肉瘤:

Conventional慣常型vs.“Proximal-type〞中央型Conventionalepithelioidsarcoma慣常型上皮樣肉瘤:- Youngadults年輕成年患者- Distallocation外周位置(e.g.extremities肢)- Superficialordeep-seated表層或深層組織- Necrobioticgranuloma-likemorphology肉芽腫樣形態(tài)- Repeatedlocalrecurrences局部復(fù)發(fā)with5-yearsurvivalrate存活率=50–80%“Proximal-type〞epithelioidsarcoma中央型上皮樣肉瘤:- Olderadults年長成年患者- Axiallocation中軸位置(e.g.pelvis盤腔,perineum會陰&genitaltract陰道)- Deep-seated深層組織- Morenuclearpleomorphism核多形性&prominentrhabdoidmorphology明顯的橫紋肌樣形態(tài)- Aggressiveclinicalcourse預(yù)后差Epithelioidsarcoma(conventional)上皮樣肉瘤(慣常型)Granuloma-likegeographicnecrosis肉芽腫樣的壞死灶Epithelioidsarcoma(“proximal-type〞)上皮樣肉瘤(中央型)Pleomorphictumorcellswithrhabdoidmorphology多形性腫瘤細胞呈橫紋肌樣形態(tài)“Proximal-type〞EpithelioidSarcoma中央型上皮樣肉瘤

vs.ExtrarenalRhabdoidTumor腎外橫紋肌樣瘤Bothentitiesshow:- Axiallocation中軸位置- Rhabdoidmorphology橫紋肌樣形態(tài)- Cytokeratin+細胞角蛋白陽性- Similarultrastructuralfindings電鏡下形態(tài)相似- Frequentaberrationsofchromosome22q染色體變異相近- Aggressiveclinicalcourse預(yù)后差(5-yearsurvivalrate<30%)withmultimodaltherapyresistance&earlytumor-relateddeaths- Frequentmetastasistolung,lymphnodes&liver肺、淋巴結(jié)和肝轉(zhuǎn)移“Proximal-type〞EpithelioidSarcoma中央型上皮樣肉瘤

vs.ExtrarenalRhabdoidTumor腎外橫紋肌樣瘤“Proximal-type〞epithelioidsarcoma中央型上皮樣肉瘤:- Adultagegroup成年患者(20–40years)- Involvespelvis盤腔,perineum會陰&genitaltract陰道(pubis恥骨,vulva外陰&penis陰莖)- Size:1–20cm- CD34+(~50%cases)Extrarenalrhabdoidtumor腎外橫紋肌樣瘤:- Pediatricagegroup幼年患者(<10years,sometimescongenital偶見先天性)- InvolvesCNS中樞神經(jīng),liver肝,heart心,GItract胃腸,thymus胸腺,paraspinalsofttissue脊周軟組織&skin皮膚- Size:<5cm- CD34–(butneuroectodermalmarkers神經(jīng)外胚層標記sometimes+)ControversiesRegarding

ExtrarenalRhabdoidTumor&

“Proximal-type〞EpithelioidSarcoma

關(guān)于腎外橫紋肌樣瘤及中央型上皮樣肉瘤的爭議Sometumorsreportedasextrarenalrhabdoidtumorsareexamplesof“proximal-type〞epithelioidsarcoma(FletcherCDM,etal.)Rhabdoidtumorisnotadistinctentity(FletcherCDM,etal.)“Proximal-type〞epithelioidsarcomamorelikelyrepresentsavariantofextrarenalrhabdoidtumor(WeissSW,etal.)Notyetconvincedthat“proximal-type〞epithelioidsarcomarepresentsadistinctentity(WeissSW,etal.)FinalPathologicDiagnosis

病理學(xué)診斷結(jié)論Extrarenalrhabdoidtumor腎外橫紋肌樣瘤/“Proximal-type〞epithelioidsarcoma中央型上皮樣肉瘤ExtrarenalRhabdoidTumor

腎外橫紋肌樣瘤:

Histogenesis發(fā)病機制Pureform單純型:- Likelyadistinctentity- Multidirectionaldifferentiation多向性分化(orsimplynon-specificcross-reactiveimmunophenotype交叉染色反響)- Mutations&homozygousdeletionsofSMAR-CB1(hSNF5orINI1)tumorsuppressorgeneinchromosome22q(similartorenal&CNSrhabdoidtumor)染色體變異與腎或中樞神經(jīng)系統(tǒng)橫紋肌樣瘤相似Compositeform合成型:- HeterogeneousentitiesExtrarenalRhabdoidTumor

腎外橫紋肌樣瘤:

Treatment治療方法Earlyradicallocalexcision局部全切除術(shù)®ionallymphnodedissection區(qū)內(nèi)淋巴結(jié)切除Adjuvantradiotherapy放射治療&multiagentchemotherapy化學(xué)治療DiagnosticAlgorithmof

ExtrarenalRhabdoidTumor

腎外橫紋肌樣瘤的診斷要訣Prominentrhabdoidmorphology明顯的橫紋肌樣形態(tài)Vimentin&epithelialmarkers(e.g.cytokeratin)+波形蛋白和上皮標記呈陽性Exclusionofalternativelineofdifferentiation并無其他分化謝謝Case6

(2148勝利油田中心醫(yī)院043976)女59歲會陰部腫塊會陰部腫塊疼痛4月余，漸大。查體：會陰部左側(cè)坐骨結(jié)節(jié)內(nèi)前側(cè)可觸及一5×6cm大小腫塊，實性，質(zhì)硬，與周圍分界清。標本檢查：送檢卵圓形腫物結(jié)節(jié)一個，體積：5×3.5×3.5cm，切面灰白，質(zhì)硬韌，一邊緣有編織狀紋理，界清。討論會診意見華