30, No. 8儿童ETV6⁃ABL1融合基因阳性急性淋巴细胞白血病一例并文献复习马海欢1常海岩1毛翠1郭祥意1贾晓冬1陈建春1王玥21 天津金域医学检验实验室有限公司细胞遗传室300392;2 厦门大学附属第一医院儿科,福建 厦门 361003通信作者:马海欢,Email:342462964@qq.com【摘要】 目的 探讨ETV6⁃
一般将上游引物设计在ETV6基因的第5号外显子、第4号外显子，下游引物设计在ABL1的2号外显子上，探针...
携带这类融合基因的患者往往表现出特定临床特征,比如ETV6-ABL1融合阳性病例常见血小板减少和脾脏肿大,这类特异性表现有助于临床医生制定针对性诊疗方案。 基因检测技术是确诊关键。荧光原位杂交技术能直观显示染色体断裂重组现象,二代测序技术则能精确识别融合断点位置。某三甲医院血液科曾接诊过9岁患儿,常规染色体核型分析...
fused to exon 2 ofABL1, while type B includes exons 1 to 5 ofETV6fused toABL1exon 2. The difference between the two transcripts at protein level is the presence or absence of a direct binding site for the SH2 domain of
Aim: To describe a rare case of morphologically typical chronic myeloid leukaemia which was BCR-ABL1 negative. It was ultimately found to have complex translocations involving chromosomes 6, 9 and 12 which resulted in an ETV6-ABL1 fusion gene. Method: Following the unexpected negative FISH and ...
基因名:ETV6 别名:TEL,TEL/ABL,THC5 基因ID:2120 Chromosome: (GRCh37)12Start:11802788End:12048336Strand:1 信号通路:血管生成基因组不稳定 ETV6 基因突变与药物 请后查看 ETV6基因突变 详细信息。
Leukemias harboring the ETV6-ABL1 fusion represent a rare subset of hematological malignancies with unfavorable outcomes. The constitutively active chimeric Etv6-Abl1 tyrosine kinase can be specifically inhibited by tyrosine kinase inhibitors (TKIs). Alt
(SAM; also known as pointed, PNT, or helix-loop-helix, HLH)oligomerizationdomain of ETV6 fused to either aDNA bindingtranscription factor such as AML1[6,7], or more commonly to aPTKdomain such as that of PDGFRβ[8], ABL[9,10],JAK2[11–13], ARG[14,15], orFGFR3[16]). These...
第19天MRD为1.6%,升中危,加用硼替佐米,第33天MRD为0.1%,第46天MRD还是0.1%,ETV6::RUNX1基因定量检测,还是阳性,拷贝数111,ABL1拷贝数200549,ETV6/RUNX1/ABL1 0.06%。 请问:1.孩子33天和46天的MRD结果没有变化,是什么情况导致的? 2.孩子的基因ETV6::RUNX1融合阳性对预后影响如...
基因名: ETV6 别名: TEL,TEL/ABL,THC5 基因ID: 2120 Chromosome:(GRCh37) 12 Start: 11802788 End: 12048336 Strand: 1 信号通路: 血管生成 基因组不稳定 ETV6 基因突变与药物 P214L R369Q R399C MUTATION关于我们 “基因医生”项目,可以为肿瘤患者提供全流程逐级的治疗方案与治疗手段。本项目创始科学家团...