ALK EML4-ALK C1156Y

在非小细胞肺癌患者表现出EML4-ALK融合,C1156Y已被证明具有抗环唑天宁的作用。病例报告表明,继发性突变可以调节药物敏感性。eml4-alk c156y/l1196m维持了对环唑替尼的耐药性,而lorlatinib耐药组合eml4-alk c156y/l119f则使肿瘤重新对环唑替尼敏感。
In patients with non-small cell lung cancer exhibiting EML4-ALK fusion, C1156Y has been shown to confer resistance to crizotinib. Case reports indicate that secondary mutations can modulate drug sensitivity. EML4-ALK C1156Y/L1196M maintained crizotinib resistance while the lorlatinib resistant combination EML4-ALK C1156Y/L1198F re-sensitized the tumor to crizotinib treatment.

别名

EML4-ALK CYS1156TYR,RS1057519859
Allele Registry ID:CA16602783
ClinVar ID:376340

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
22944525829445258CT
Transcript
ENST00000389048.3

基因序列

ENST00000389048.3:c.3467G>003eA
NC_000002.11:g.29445258C>003eT
NM_004304.4:c.3467G>003eA
NP_004295.2:p.Cys1156Tyr