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1、Sarcomas in Pediatric Age Group 幼年较常见的肉瘤,Rhabdomyosarcoma 横纹肌肉瘤 (45%) PNET / extraskeletal Ewings sarcoma 原始性神经外胚层瘤或骨外尤文肉瘤 (22%) MPNST 恶性神经鞘瘤 (8%) Synovial sarcoma 滑膜肉瘤 (5%) Leiomyosarcoma 平滑肌肉瘤 (3%) Fibrosarcoma 纤维肉瘤 (2%) Extrarenal rhabdoid tumor 肾外横纹肌样瘤 (2%) Alveolar soft part sarcoma 腺泡状软组织肉瘤 (1
2、%) Others,S-100 protein,CD34,Vimentin,Cytokeratin (Cam5.2),Cytokeratin (AE1/3),CD99,Smooth muscle actin,Neuron-specific enolase,Chromogranin,Synaptophysin,Immunohistochemistry 免疫组化,Cytokeratin + Vimentin + CD99 + Neuron-specific enolase / chromogranin / synaptophysin + (focal) Smooth muscle actin +
3、(focal) S-100 protein / HMB45 - CD34 / CD 31 - bcl-2 - Desmin - p63 - Calretinin -,Cytokeratin-positivity in Soft Tissue Lesions 细胞角蛋白呈阳性的软组织病变,Metastatic carcinoma / mesothelioma 转移性癌或间皮瘤 Chordoma 脊索瘤 Synovial sarcoma 滑膜肉瘤 Epithelioid sarcoma 上皮样肉瘤 Epithelioid hemangioendothelioma / angiosarcoma 上皮
4、样血管内皮瘤或血管肉瘤 Desmoplastic small round cell tumor 结缔组织增生性小细胞瘤 Mixed tumor 混合瘤 / myoepithelioma 肌上皮细胞瘤 / parachordoma 副脊索瘤 Reticulum cell sarcoma 网状细胞肉瘤 Adamantinoma of long bones 长骨釉质瘤 PNET / extraskeletal Ewings sarcoma 原始性神经外胚层瘤或骨外尤文肉瘤 Rare sarcomas with aberrant cytokeratin expression,Electron micr
5、oscopy 电镜,Paranuclear whorl of intermediate filaments 成旋渦状的中丝聚于核周胞浆,Electron microscopy 电镜,Intermediate filaments admixed with scanty free ribosomes 中丝混和自由的核糖体,Electron microscopy 电镜,Intermediate filaments admixed with rER 中丝混和粗面内浆网,Electron microscopy 电镜,Whorl of intermediate filaments 中丝成旋渦状,Elect
6、ron microscopy 电镜,Short bundles of tonofilaments 短束状的张力微丝,Electron microscopy 电镜,Tonofilaments & primitive cell junction 张力微丝与原始性的细胞接连,Electron microscopy 电镜,Abortive cytoplasmic processes 不发达的胞浆突起,Electron Microscopy 电镜,Paranuclear whorls of intermediate filaments 成旋渦状的中丝聚于核周胞浆 (8 10 nm in diameter
7、), associated with mitochondria 线粒体, lipid globules 脂滴, lysosomes 溶酶体, rER 粗面内浆网 & free ribosomes 自由的核糖体 Short bundles of tonofilaments 短束状的张力微丝 Abortive cytoplasmic processes 不发达的胞浆突起 Primitive cell junctions 原始性的细胞接连,Histologic Differential Diagnosis 组织学鉴别诊断,Epithelioid sarcoma 上皮样肉瘤 (conventional
8、 惯常型 vs. “proximal-type” 中央型) Extrarenal rhabdoid tumor 肾外横纹肌样瘤 Metastatic carcinoma 转移性癌,Epithelioid Sarcoma 上皮样肉瘤: Conventional 惯常型 vs. “Proximal-type” 中央型,Conventional epithelioid sarcoma 惯常型上皮样肉瘤: - Young adults 年轻成年患者 - Distal location 外周位置 (e.g. extremities 肢) - Superficial or deep-seated 表层或深
9、层组织 - Necrobiotic granuloma-like morphology 肉芽肿样形态 - Repeated local recurrences 局部复发 with 5-year survival rate 存活率 = 50 80% “Proximal-type” epithelioid sarcoma 中央型上皮样肉瘤: - Older adults 年长成年患者 - Axial location 中轴位置 (e.g. pelvis 盘腔, perineum 会阴 & genital tract 阴道) - Deep-seated 深层组织 - More nuclear ple
10、omorphism 核多形性 & prominent rhabdoid morphology 明显的横纹肌样形态 - Aggressive clinical course 预后差,Epithelioid sarcoma (conventional) 上皮样肉瘤(惯常型),Granuloma-like geographic necrosis 肉芽肿样的坏死灶,Epithelioid sarcoma (“proximal-type”) 上皮样肉瘤(中央型),Pleomorphic tumor cells with rhabdoid morphology 多形性肿瘤细胞呈横纹肌样形态,“Proxim
11、al-type” Epithelioid Sarcoma 中央型上皮样肉瘤 vs. Extrarenal Rhabdoid Tumor 肾外横纹肌样瘤,Both entities show: - Axial location 中轴位置 - Rhabdoid morphology 横纹肌样形态 - Cytokeratin + 细胞角蛋白阳性 - Similar ultrastructural findings 电镜下形态相似 - Frequent aberrations of chromosome 22q 染色体变异相近 - Aggressive clinical course 预后差 (5-y
12、ear survival rate 30%) with multimodal therapy resistance & early tumor-related deaths - Frequent metastasis to lung, lymph nodes & liver 肺、淋巴结和肝转移,“Proximal-type” Epithelioid Sarcoma 中央型上皮样肉瘤 vs. Extrarenal Rhabdoid Tumor 肾外横纹肌样瘤,“Proximal-type” epithelioid sarcoma 中央型上皮样肉瘤: - Adult age group 成年患者
13、(20 40 years) - Involves pelvis 盘腔, perineum 会阴 & genital tract 阴道 (pubis 耻骨, vulva 外阴 & penis 阴茎) - Size: 1 20 cm - CD34 + ( 50% cases) Extrarenal rhabdoid tumor 肾外横纹肌样瘤: - Pediatric age group 幼年患者 ( 10 years, sometimes congenital 偶见先天性) - Involves CNS 中枢神经, liver 肝, heart 心, GI tract 胃肠, thymus 胸腺
14、, paraspinal soft tissue 脊周软组织 & skin 皮肤 - Size: 5 cm - CD34 (but neuroectodermal markers 神经外胚层标记 sometimes +),Controversies Regarding Extrarenal Rhabdoid Tumor & “Proximal-type” Epithelioid Sarcoma 关于肾外横纹肌样瘤及中央型上皮样肉瘤的争议,Some tumors reported as extrarenal rhabdoid tumors are examples of “proximal-ty
15、pe” epithelioid sarcoma (Fletcher CDM, et al.) Rhabdoid tumor is not a distinct entity (Fletcher CDM, et al.) “Proximal-type” epithelioid sarcoma more likely represents a variant of extrarenal rhabdoid tumor (Weiss SW, et al.) Not yet convinced that “proximal-type” epithelioid sarcoma represents a d
16、istinct entity (Weiss SW, et al.),Final Pathologic Diagnosis 病理学诊断结论,Extrarenal rhabdoid tumor 肾外横纹肌样瘤 / “Proximal-type” epithelioid sarcoma 中央型上皮样肉瘤,Extrarenal Rhabdoid Tumor 肾外横纹肌样瘤: Histogenesis 发病机制,Pure form 单纯型: - Likely a distinct entity - Multidirectional differentiation 多向性分化 (or simply non
17、-specific cross-reactive immunophenotype 交叉染色反应) - Mutations & homozygous deletions of SMAR-CB1 (hSNF5 or INI1) tumor suppressor gene in chromosome 22q (similar to renal & CNS rhabdoid tumor) 染色体变异与肾或中枢神经系統横纹肌样瘤相似 Composite form 合成型: - Heterogeneous entities,Extrarenal Rhabdoid Tumor 肾外横纹肌样瘤: Treatm
18、ent 治疗方法,Early radical local excision 局部全切除术 & regional lymph node dissection 区内淋巴结切除 Adjuvant radiotherapy 放射治療 & multiagent chemotherapy 化学治療,Diagnostic Algorithm of Extrarenal Rhabdoid Tumor 肾外横纹肌样瘤的诊断要诀,Prominent rhabdoid morphology 明显的横纹肌样形态 Vimentin & epithelial markers (e.g. cytokeratin) + 波形
19、蛋白和上皮标记呈阳性 Exclusion of alternative line of differentiation 并无其他分化,谢谢,Case 6 (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一56cm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： 53.53.5cm，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
20、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,HMB45 S100 MBP CK EMA SMA DES CD34 Melan A ,HMB-45,Melan A,MBP,S-100,Case 7 (SP-5 Lung Nodules),41岁女患，呼吸短促。 该患有子宫出血病史 现子宫切除术后。,CT,CT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 和 1.8 cm的楔形肺组织. 最大切面可见三个境界清晰的直径0.5 到1.2 cm质硬结节。 切片示具代表性的病灶,SP-5,Diagnosis?,Differential Diagnosis,Metastatic leiomyosarcoma from uterus Primary leiomyomatosis of the lung Metastatic spindle cell malignancy Benign metastasizing leiomyoma (of the lung),