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原發(fā)性,、惡性骨腫瘤顯示脊索分化;它包括普通型,、低分化型和去分化型（Primary, malignant bone neoplasm showing notochordal differentiation; it comprises conventional,poorly differentiated and dedifferentiated types）,。9372/3普通脊索瘤( Conventional chordoma)9370/3低分化脊索瘤(Poorly differentiated chordoma)9372/3去分化脊索瘤(Dedifferentiated chordoma)2B5K & XH9GH0 其他或未特指部位的骨或關(guān)節(jié)軟骨的未特指的惡性軟組織腫瘤或肉瘤&脊索瘤NOS（nspecified malignant soft tissue tumours or sarcomas of bone or articular cartilage of other or unspecified sites & Chordoma NOS）2B5K & XH17D8 其他或未特指部位的骨或關(guān)節(jié)軟骨的未特指的惡性軟組織腫瘤或肉瘤&軟骨樣脊索瘤（nspecified malignant soft tissue tumours or sarcomas of bone or articular cartilage of other or unspecified sites & Chondroid chordoma）2B5Z & XH7303未特指類型的惡性間質(zhì)腫瘤&去分化脊索瘤（Malignant mesenchymal neoplasm of unspecified type & Dedifferentiated chordoma）顱底脊索瘤通常起源于斜坡。鞍旁或向鞍上伸展是常見的,。完全的鞍內(nèi)病變是罕見的{29061463},。脊索瘤和垂體PitNET /腺瘤共存是例外（Co-existence of chordoma and pituitary PitNET / adenoma is exceptional）{28516081}。鞍內(nèi)脊索瘤表現(xiàn)為顱神經(jīng)功能障礙(88,1%),、視覺障礙和內(nèi)分泌異常(52,8%),，包括高泌乳素血癥和/或垂體功能低下{26535833;29061463}。頭痛本身是很少見的,。影像學(xué):脊索瘤為破壞骨的中線病變,。在MRI上，T1序列通常為低信號(hào)(比斜坡脂肪低),，T2序列為高信號(hào)和不同的增強(qiáng)強(qiáng)化,。患病率為0.088/1000000個(gè)體，占原發(fā)性中樞神經(jīng)系統(tǒng)腫瘤的0.5%{32342333},。脊索瘤占鞍區(qū)病變的0.5% {17287410;31233145},。顱底是約38%的患者的原發(fā)部位{27609115;32342333},。兒童和成人都受到影響。患鞍內(nèi)脊索瘤的成人比患非鞍內(nèi)顱底脊索瘤的患者年齡更大(平均:55.5歲vs 43.3歲),。女性發(fā)病率較高(性別比率為1.16){29061463},。脊索瘤大多數(shù)是散發(fā)性的。已在家族性病例中報(bào)道有種系TBXT基因復(fù)制（ Germline TBXT gene duplication）,。與結(jié)節(jié)性硬化癥相關(guān){28498973},。脊索瘤可能起源于部分個(gè)體發(fā)育后持續(xù)殘留的脊索殘余（Chordomas likely derive from notochordal remnants that persist after the development in a subset of individuals. ）。尚不清楚脊索殘余轉(zhuǎn)化的分子機(jī)制,。TBXT基因復(fù)制(27%的病例)和PIK3CA信號(hào)突變(16%)已得到描述{24990759;29026114;33536423},。也報(bào)道有一個(gè)新的LYST失活突變(10%){29026114;33536423}。在顱底脊索瘤中,，SWI/SNF復(fù)合體成員PBRM1/SETD2的改變以及CDKN2A純合缺失(33536423)是最常見的事件(占16%),。由純合SMARCB1基因缺失導(dǎo)致的INI1表達(dá)缺失發(fā)生在低分化脊索瘤中{27067307}。脊索瘤表現(xiàn)為分葉狀實(shí)質(zhì)性腫瘤,，呈膠狀外觀,，典型侵襲骨骼并延伸至周圍組織（Chordomas present as lobulated solid tumours with a gelatinous appearance typically invading the bone and extending into the surrounding tissue）普通脊索瘤表現(xiàn)為小葉結(jié)構(gòu)，小葉被纖維間隔分隔,。腫瘤細(xì)胞在黏液樣基質(zhì)中形成索狀或帶狀,。細(xì)胞大，胞漿清晰,，嗜酸性,。當(dāng)細(xì)胞質(zhì)呈空泡狀或泡狀（acuolated or bubbly）時(shí)，它們被定義為空泡細(xì)胞（physaliphorous cells）,?？捎^察到異核病和核包涵體。核仁突出,，少見有絲分裂和凋亡小體,。亞型:軟骨樣脊索瘤主要由透明軟骨樣細(xì)胞外基質(zhì)組成（Chondroid chordoma represents a subtype composed predominantly of hyaline cartilage-like extracellular matrix.）。去分化脊索瘤是雙相腫瘤（biphasic tumours）,，由普通脊索瘤與高級(jí)別肉瘤并置組成（composed of conventional chordoma juxtaposed to high-grade sarcoma.）,。在常規(guī)成分中保存有鼠短尾突變體表型和細(xì)胞角蛋白的表達(dá)，而肉瘤區(qū)域可能對(duì)其缺失（ Brachyury and cytokeratin expression is preserved in the conventional component while sarcomatous areas can lose them ）{31652338;32427623},。低分化脊索瘤由上皮樣或橫紋肌樣細(xì)胞組成（consists of epithelioid or rhabdoid cells），缺乏黏液區(qū)和空泡細(xì)胞（ lacks myxoid areas and physaliphorous cells）,。保留鼠短尾突變體表型免疫染色,。INI -1表達(dá)缺失{27067307;29483606}。免疫組化:鼠短尾突變體表型（Brachyury）表達(dá)為診斷標(biāo)志{16538613;18301055;26099010},。鑒別診斷:包括良性{31421435}和不典型{27819871}脊索細(xì)胞腫瘤,。軟骨樣脊索瘤應(yīng)與低級(jí)別軟骨肉瘤相鑒別擠壓或壓印制備（Squash or imprint preparations）顯示團(tuán)簇或分散的一致的的細(xì)胞（ clusters or dispersed uniform cells）,，在黏液狀和/或纖維狀基質(zhì)中，胞漿呈弱嗜酸性或透明空泡狀(嗜酸細(xì)胞)[ weakly eosinophilic or clear, vacuolated cytoplasm (physaliphorous cells) in a myxoid and/or fibrillary matrix],。尚無(wú)普通脊索瘤（Conventional chordoma）的診斷分子標(biāo)記物報(bào)道,。純合子SMARCB1缺失支持低分化脊索瘤的診斷。普通脊索瘤:在黏液樣到軟骨樣基質(zhì)中的上皮樣細(xì)胞和空泡細(xì)胞,，且有鼠短尾突變體表型表達(dá)（Conventional chordoma: epithelioid and physaliphorous cells in a myxoid to chondroid matrix and brachyury expression）去分化脊索瘤:額外的肉瘤成分（Dedifferentiated chordoma: additional sarcomatous component）低分化脊索瘤:不典型上皮樣細(xì)胞到橫紋肌樣細(xì)胞的聚集;INI1表達(dá)缺失,，保留鼠短尾突變體表型（Poorly differentiated chordoma: aggregates of atypical epithelioid to rhabdoid cells; loss of INI1 expression and retained brachyury）脊索瘤按照骨肉瘤的治療方案（the bone sarcoma protocols ）分期脊索瘤是生長(zhǎng)緩慢，但具有局部進(jìn)襲性的腫瘤,。未完全切除是影響預(yù)后的主要因素,。鞍內(nèi)脊索瘤成人患者預(yù)后較顱底脊索瘤患者的差{29061463}，可能是由于切除不完全和術(shù)后內(nèi)分泌后遺癥,。去分化和低分化脊索瘤是高度進(jìn)襲性腫瘤{27067307109,；29361006；29483606,；31528536},。
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