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ALK R1275Q
GeneALK
Variantmissense
Amino Acid ChangeR1275Q
DNA Change (Coding Nucleotide)3824G>A
Transcript ID (GRCh37/hg19)ENST00000389048
Codon1275
Exon25
Genomic Coordinates (GRCh37/hg19)2:29432664-29432664
COSMIC ID28056
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
ALK
Variants
ALK R1275Q
Primary Sites
Soft Tissue
Brain
Brain, Infratentorial
Brain, Supratentorial
Tumor Types
Neuroblastoma
Interpretation

The anaplastic lymphoma kinase (ALK) has emerged as a potentially relevant biomarker and therapeutic target in pediatric solid and hematologic malignancies. It is a receptor tyrosine kinase (RTK) that is known to be activated either by point mutations or by chromosomal translocations. These genetic alterations act as oncogenic drivers and promote constitutive, ligand-independent activation of this RTK. Recurrent activating point mutations are seen within kinase domain in both the hereditary and sporadic form of neuroblastoma cases (7-10%). According to some studies, the presence of an ALK aberration could be a biomarker of aggressive disease and inferior clinical outcome. Clinical trials of crizotinib in neuroblastoma are underway. The R1275Q mutation is most common variant among ALK-mutated neuroblastomas (33%), and is found in both sporadic and familial cases. The R1275 amino acid substitution lies within the activation loop and causes constitutive ligand-independent activation of this RTK. Both preclinical and clinical studies suggest that this mutation could be sensitive to ALK inhibition.

Last updated: 2016-10-11 21:43:00 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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