ALK CLTC-ALK

T(2;17)(p23;q23)易位导致CLTC-ALK融合蛋白,这是弥漫性大B细胞淋巴瘤(dlbcl)中最常见的ALK融合蛋白。ALK重排DLBCL对CHOP化疗的反应较低。临床前研究表明,在细胞系和小鼠模型中,CLTC-ALK-DLBCL对ALK抑制有反应,两个病例研究表明,当重度预处理和晚期ALK阳性的DLBCL用环唑替尼治疗时,反应短暂,随后进展(一例为CLTC-ALK,一例为未知的ALK融合)。
The t(2;17)(p23;q23) translocation results in the CLTC-ALK fusion protein, the most common ALK fusion observed in diffuse large B cell lymphoma (DLBCL). ALK-rearranged DLBCL is less responsive to CHOP chemotherapy. Preclinical work indicates that CLTC-ALK DLBCL is responsive to ALK inhibition in cell lines and mouse models, and two case studies show short response followed by progression when heavily pretreated and advanced ALK-positive DLBCL is treated with crizotinib (one case CLTC-ALK, one case an unknown ALK fusion).

别名

T(2;17)(P23;Q23)
Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
175769721957768072CT
Transcript
ENST00000269122.3
COORDINATE 2
Chr.StartStopTranscript
22941564029446394ENST00000389048.3

基因序列