軟組織腫瘤病理學(xué)病例討論五

SarcomasinPediatricAgeGroup

幼年較常見的肉瘤S-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Electronmicroscopy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(biāo)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(biāo)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。討論會診意見華西：(會陰部左側(cè)坐骨結(jié)節(jié)內(nèi)〕惡性外周神經(jīng)鞘膜瘤〔可見腫瘤圍繞小神經(jīng)支〕。廖松林：(坐骨結(jié)節(jié)內(nèi)側(cè)〕梭形或短梭形細胞肉瘤，細胞比較一致，考慮以下可能，1、梭形細胞惡黑〔可能是透明細胞肉瘤〕2、單向型滑膜肉瘤3、平滑肌肉瘤4、MPNST。建議染免疫組化進行鑒別診斷。朱雄增：(坐骨結(jié)節(jié)內(nèi)側(cè)〕平滑肌肉瘤，中度分化。免疫組化HMB－45 ＋ S－100＋MBP －＋ CK －EMA － SMA －DES － CD34 －MelanA ＋HMB-45MelanAMBPS-100Case7(SP-5LungNodules)CTCT檢查發(fā)現(xiàn)其肺臟多發(fā)的小病灶。進行活檢以明確病變性質(zhì)。大體標(biāo)本大體標(biāo)本示兩塊大小分別為1.5