转化医学电子杂志
轉化醫學電子雜誌
전화의학전자잡지
2014年
6期
1-12
,共12页
李军钊%贺世明%张治国%巩丽%金天博%崔光彬%高立%梁娜%高国栋%李刚
李軍釗%賀世明%張治國%鞏麗%金天博%崔光彬%高立%樑娜%高國棟%李剛
리군쇠%하세명%장치국%공려%금천박%최광빈%고립%량나%고국동%리강
胶质瘤%少突胶质细胞瘤%颅外转移%解剖%1p/19q 染色体缺失%遗传分析
膠質瘤%少突膠質細胞瘤%顱外轉移%解剖%1p/19q 染色體缺失%遺傳分析
효질류%소돌효질세포류%로외전이%해부%1p/19q 염색체결실%유전분석
glioma%oligodendroglioma%extracranial metastasis%autopsy%1p/19q,chromosome deletions%genetic analysis
目的:通常认为脑胶质瘤(包括高级别脑胶质瘤)不会发生中枢神经系统(CNS)以外的转移.然而,少突胶质细胞瘤(OGD)不会在CNS以外转移这一观念已经在发生改变.方法:本文对1例间变型OGD患者发生CNS以外转移的病例进行了报道.该OGD患者术后13月被证实,明确地发生了多个淋巴结、骨髓以及多处骨(包括双侧髂骨、右侧股骨以及多个椎体)转移.该例患者进行了1p与19q染色体缺失、MGMT基因启动子甲基化状态以及PTEN 基因外显子突变的检测.对PubMed收录文献进行检索、对比,检索关键词分别为 Extracranial,Extraneural,Oligodendroglioma,Oligodendroglio-mas,Metastatic,Metastasis,Metastases,对上述关键词进行多种组合.结果:患者骨髓穿刺活检提示,明确发生了肿瘤骨髓转移.免疫组织化学染色诊断确立了本例临床诊断,系间变型OGD伴CNS以外转移.检测显示,上述肿瘤组织均未发生1 p与19q缺失,发生了MGMT 基因启动子甲基化及PTEN 基因第2号外显子第234号编码子G→A的颠换.检索显示,1951年至今见诸文献的 OGD 发生 CNS 以外转移的病例已有60例,本文报道的系第61例.这61例患者中,OGD共侵犯110处部位,其中最经常侵犯的部位依次是骨与骨髓(n =47;42.7%)、淋巴结(n =22;20.0%)、肝(n =7;6.4%)、头皮(n=6;5.5%)、肺(n=6;5.5%)、胸膜(n=4;3.6%)、胸壁(n=3;2.7%)、髂腰肌(n=2;1.8%)、软组织(n=2;1.8%)以及腮腺(n=2;1.8%).结论:OGD的CNS以外转移尽管发生率较低,但的确发生.OGD最经常侵犯的部位是骨与骨髓.检测1p与19q缺失、MGMT 基因启动子甲基化状态及PTEN基因外显子突变可能有助于筛选出OGD中可能发生CNS以外转移的类型.
目的:通常認為腦膠質瘤(包括高級彆腦膠質瘤)不會髮生中樞神經繫統(CNS)以外的轉移.然而,少突膠質細胞瘤(OGD)不會在CNS以外轉移這一觀唸已經在髮生改變.方法:本文對1例間變型OGD患者髮生CNS以外轉移的病例進行瞭報道.該OGD患者術後13月被證實,明確地髮生瞭多箇淋巴結、骨髓以及多處骨(包括雙側髂骨、右側股骨以及多箇椎體)轉移.該例患者進行瞭1p與19q染色體缺失、MGMT基因啟動子甲基化狀態以及PTEN 基因外顯子突變的檢測.對PubMed收錄文獻進行檢索、對比,檢索關鍵詞分彆為 Extracranial,Extraneural,Oligodendroglioma,Oligodendroglio-mas,Metastatic,Metastasis,Metastases,對上述關鍵詞進行多種組閤.結果:患者骨髓穿刺活檢提示,明確髮生瞭腫瘤骨髓轉移.免疫組織化學染色診斷確立瞭本例臨床診斷,繫間變型OGD伴CNS以外轉移.檢測顯示,上述腫瘤組織均未髮生1 p與19q缺失,髮生瞭MGMT 基因啟動子甲基化及PTEN 基因第2號外顯子第234號編碼子G→A的顛換.檢索顯示,1951年至今見諸文獻的 OGD 髮生 CNS 以外轉移的病例已有60例,本文報道的繫第61例.這61例患者中,OGD共侵犯110處部位,其中最經常侵犯的部位依次是骨與骨髓(n =47;42.7%)、淋巴結(n =22;20.0%)、肝(n =7;6.4%)、頭皮(n=6;5.5%)、肺(n=6;5.5%)、胸膜(n=4;3.6%)、胸壁(n=3;2.7%)、髂腰肌(n=2;1.8%)、軟組織(n=2;1.8%)以及腮腺(n=2;1.8%).結論:OGD的CNS以外轉移儘管髮生率較低,但的確髮生.OGD最經常侵犯的部位是骨與骨髓.檢測1p與19q缺失、MGMT 基因啟動子甲基化狀態及PTEN基因外顯子突變可能有助于篩選齣OGD中可能髮生CNS以外轉移的類型.
목적:통상인위뇌효질류(포괄고급별뇌효질류)불회발생중추신경계통(CNS)이외적전이.연이,소돌효질세포류(OGD)불회재CNS이외전이저일관념이경재발생개변.방법:본문대1례간변형OGD환자발생CNS이외전이적병례진행료보도.해OGD환자술후13월피증실,명학지발생료다개림파결、골수이급다처골(포괄쌍측가골、우측고골이급다개추체)전이.해례환자진행료1p여19q염색체결실、MGMT기인계동자갑기화상태이급PTEN 기인외현자돌변적검측.대PubMed수록문헌진행검색、대비,검색관건사분별위 Extracranial,Extraneural,Oligodendroglioma,Oligodendroglio-mas,Metastatic,Metastasis,Metastases,대상술관건사진행다충조합.결과:환자골수천자활검제시,명학발생료종류골수전이.면역조직화학염색진단학립료본례림상진단,계간변형OGD반CNS이외전이.검측현시,상술종류조직균미발생1 p여19q결실,발생료MGMT 기인계동자갑기화급PTEN 기인제2호외현자제234호편마자G→A적전환.검색현시,1951년지금견제문헌적 OGD 발생 CNS 이외전이적병례이유60례,본문보도적계제61례.저61례환자중,OGD공침범110처부위,기중최경상침범적부위의차시골여골수(n =47;42.7%)、림파결(n =22;20.0%)、간(n =7;6.4%)、두피(n=6;5.5%)、폐(n=6;5.5%)、흉막(n=4;3.6%)、흉벽(n=3;2.7%)、가요기(n=2;1.8%)、연조직(n=2;1.8%)이급시선(n=2;1.8%).결론:OGD적CNS이외전이진관발생솔교저,단적학발생.OGD최경상침범적부위시골여골수.검측1p여19q결실、MGMT 기인계동자갑기화상태급PTEN기인외현자돌변가능유조우사선출OGD중가능발생CNS이외전이적류형.
AIM:It is generally believed that malignant gliomas never metastasize outside the central nervous system.Oligoden-drogliomas (OGDs)are characterized by multiple recurrences and extracranial spread is rare,especially distant metastases.Howev-er,the notion that OGD cells cannot spread outside the central nervous system is being challenged.METHODS:Herein we de-scribe in detail the clinical story of one patient with anaplastic OGD,which metastasized to many lymph nodes,bone marrow, and bones (bilateral iliac,right acetabulum,and multi-vertebral bodies).Genetic analyses included detection of the 1p and 19q chromosomal arms,methylation status of the MGMT (O-6-methyl-guanine-DNA methyltransferase)promoter,and PTEN (phospha-tase and tensin homolog)exon mutations.A search of worldwide literature was conducted for reports of metastatic OGDs using NC-BI-PubMed,with the keywords “extracranial”,“extraneural”,“oligo dendroglioma”,“oligodendrogliomas”,“metastatic”,“metastasis”,and “metastases”,in different combinations.The reference lists of the subsequently selected journals were also re-viewed.RESULTS:An open biopsy of the infiltrated bones in our patient revealed that malignant cells had replaced the patient's marrow.Moreover,the diagnosis of multiple-organ metastases of anaplastic OGD was confirmed based on immunohistochemical staining.Genetic analyses showed that the tumors originated from previously resected brain lesions.None of the metastatic lesions had the 1p and 19q deletions that are common in OGD,but hy-permethylation of MGMT promoter was detected,and a G→A transversion at codon 234 of PTEN exon 2.Review of the litera-ture yielded 60 reports of metastatic OGDs from 195 1 to the pres-ent,which with our patient makes 6 1 cases.Concerning these 6 1 patients,there were 1 10 infiltrated sites correlated closely with primary OGDs.The most frequent metastatic sites were bone and bone marrow (n =47;42.7%), lymph nodes (n =22;20.0%),liver (n=7;6.4%),scalp (n =6;5.5%),lung (n=6;5.5%),pleura (n =4;3.6%),chest wall (n =3;2.7%),iliopsoas muscle (n =2;1.8%),soft tissue (n =2;1 .8%),and parotid gland (n=2;1 .8%),and one lesion (n=1;0.9%)each in the adrenal gland,spleen,thoracic wall,pan-creas,dorsal root ganglia,abdomen,spinal dura mater,breast, and thymus gland.CONCLUSION:Extracranial metastases in anaplastic OGD are very rare but they do occur;bone and bone marrow may be the most common sites.Detection of certain mo-lecular markers such as combined deletion of the 1p and 19q chro-mosomal arms,hypermethylation of the MGMT promoter,and characteristic PTEN exon mutations may help differentiate sub-types which are more prone to extracranial metastases.Such ana-lyses are likely to benefit those OGD patients with putative ex-tracranial metastases.