软组织肿瘤病理学病例讨论五

SarcomasinPediatricAgeGroup

幼年较常见的肉瘤S-100proteinCD34VimentinCytokeratin(Cam5.2)Cytokeratin(AE1/3)CD99SmoothmuscleactinNeuron-specificenolaseChromograninSynaptophysinImmunohistochemistry

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

细胞角蛋白呈阳性的软组织病变Electronmicroscopy电镜Paranuclearwhorlofintermediatefilaments成旋渦状的中丝聚于核周胞浆Electronmicroscopy电镜Intermediatefilamentsadmixedwithscantyfreeribosomes中丝混和自由的核糖体Electronmicroscopy电镜IntermediatefilamentsadmixedwithrER中丝混和粗面内浆网Electronmicroscopy电镜Whorlofintermediatefilaments中丝成旋渦状Electronmicroscopy电镜Shortbundlesoftonofilaments短束状的张力微丝Electronmicroscopy电镜Tonofilaments&primitivecelljunction张力微丝与原始性的细胞接连Electronmicroscopy电镜Abortivecytoplasmicprocesses不兴旺的胞浆突起ElectronMicroscopy电镜Paranuclearwhorlsofintermediatefilaments成旋渦状的中丝聚于核周胞浆(8–10nmindiameter),associatedwithmitochondria线粒体,lipidglobules脂滴,lysosomes溶酶体,rER粗面内浆网&freeribosomes自由的核糖体Shortbundlesoftonofilaments短束状的张力微丝Abortivecytoplasmicprocesses不兴旺的胞浆突起Primitivecelljunctions原始性的细胞接连HistologicDifferentialDiagnosis

组织学鉴别诊断Epithelioidsarcoma上皮样肉瘤(conventional惯常型vs.“proximal-type〞中央型)Extrarenalrhabdoidtumor肾外横纹肌样瘤Metastaticcarcinoma转移性癌EpithelioidSarcoma上皮样肉瘤:

Conventional惯常型vs.“Proximal-type〞中央型Conventionalepithelioidsarcoma惯常型上皮样肉瘤:- Youngadults年轻成年患者- Distallocation外周位置(e.g.extremities肢)- Superficialordeep-seated表层或深层组织- Necrobioticgranuloma-likemorphology肉芽肿样形态- Repeatedlocalrecurrences局部复发with5-yearsurvivalrate存活率=50–80%“Proximal-type〞epithelioidsarcoma中央型上皮样肉瘤:- Olderadults年长成年患者- Axiallocation中轴位置(e.g.pelvis盘腔,perineum会阴&genitaltract阴道)- Deep-seated深层组织- Morenuclearpleomorphism核多形性&prominentrhabdoidmorphology明显的横纹肌样形态- Aggressiveclinicalcourse预后差Epithelioidsarcoma(conventional)上皮样肉瘤(惯常型)Granuloma-likegeographicnecrosis肉芽肿样的坏死灶Epithelioidsarcoma(“proximal-type〞)上皮样肉瘤(中央型)Pleomorphictumorcellswithrhabdoidmorphology多形性肿瘤细胞呈横纹肌样形态“Proximal-type〞EpithelioidSarcoma中央型上皮样肉瘤

vs.ExtrarenalRhabdoidTumor肾外横纹肌样瘤Bothentitiesshow:- Axiallocation中轴位置- Rhabdoidmorphology横纹肌样形态- Cytokeratin+细胞角蛋白阳性- Similarultrastructuralfindings电镜下形态相似- Frequentaberrationsofchromosome22q染色体变异相近- Aggressiveclinicalcourse预后差(5-yearsurvivalrate<30%)withmultimodaltherapyresistance&earlytumor-relateddeaths- Frequentmetastasistolung,lymphnodes&liver肺、淋巴结和肝转移“Proximal-type〞EpithelioidSarcoma中央型上皮样肉瘤

vs.ExtrarenalRhabdoidTumor肾外横纹肌样瘤ControversiesRegarding

ExtrarenalRhabdoidTumor&

“Proximal-type〞EpithelioidSarcoma

关于肾外横纹肌样瘤及中央型上皮样肉瘤的争议Sometumorsreportedasextrarenalrhabdoidtumorsareexamplesof“proximal-type〞epithelioidsarcoma(FletcherCDM,etal.)Rhabdoidtumorisnotadistinctentity(FletcherCDM,etal.)“Proximal-type〞epithelioidsarcomamorelikelyrepresentsavariantofextrarenalrhabdoidtumor(WeissSW,etal.)Notyetconvincedthat“proximal-type〞epithelioidsarcomarepresentsadistinctentity(WeissSW,etal.)FinalPathologicDiagnosis

病理学诊断结论Extrarenalrhabdoidtumor肾外横纹肌样瘤/“Proximal-type〞epithelioidsarcoma中央型上皮样肉瘤ExtrarenalRhabdoidTumor

肾外横纹肌样瘤:

Histogenesis发病机制Pureform单纯型:- Likelyadistinctentity- Multidirectionaldifferentiation多向性分化(orsimplynon-specificcross-reactiveimmunophenotype交叉染色反响)- Mutations&homozygousdeletionsofSMAR-CB1(hSNF5orINI1)tumorsuppressorgeneinchromosome22q(similartorenal&CNSrhabdoidtumor)染色体变异与肾或中枢神经系統横纹肌样瘤相似Compositeform合成型:- HeterogeneousentitiesExtrarenalRhabdoidTumor

肾外横纹肌样瘤:

Treatment治疗方法DiagnosticAlgorithmof

ExtrarenalRhabdoidTumor

肾外横纹肌样瘤的诊断要诀Prominentrhabdoidmorphology明显的横纹肌样形态Vimentin&epithelialmarkers(e.g.cytokeratin)+波形蛋白和上皮标记呈阳性Exclusionofalternativelineofdifferentiation并无其他分化谢谢Case6

(2148胜利油田中心医院043976)女59岁会阴部肿块会阴部肿块疼痛4月余，渐大。查体：会阴部左侧坐骨结节内前侧可触及一5×6cm大小肿块，实性，质硬，与周围分界清。标本检查：送检卵圆形肿物结节一个，体积：5×3.5×3.5cm，切面灰白，质硬韧，一边缘有编织状纹理，界清。讨论会诊意见华西：(会阴部左侧坐骨结节内〕恶性外周神经鞘膜瘤〔可见肿瘤围绕小神经支〕。廖松林：(坐骨结节内侧〕梭形或短梭形细胞肉瘤，细胞比较一致，考虑以下可能，1、梭形细胞恶黑〔可能是透明细胞肉瘤〕2、单向型滑膜肉瘤3、平滑肌肉瘤4、MPNST。建议染免疫组化进行鉴别诊断。朱雄增：(坐骨结节内侧〕平滑肌肉瘤，中度分化。免疫组化HMB－45 ＋ S－100＋MBP －＋ CK －EMA － SMA －DES － CD34 －MelanA ＋HMB-45MelanAMBPS-100Case7(SP-5LungNodules)CTCT检查发现其肺脏多发的小病灶。进行活检以明确病变性质。大体标本大体标本示两块大小分别为1.5