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|Protein Effect||gain of function|
|Gene Variant Descriptions||ALK R1192P lies within the protein kinase domain of the Alk protein (UniProt.org). R1192P confers a gain of function to the Alk protein as demonstrated by increased downstream signalling (PMID: 21838707), activation in in vitro assays (PMID: 33674381, PMID: 25517749), and transformation of cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749).|
|Associated Drug Resistance|
|Category Variants Paths||
ALK mutant ALK act mut ALK R1192P
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|ALK R1192P||Advanced Solid Tumor||sensitive||Brigatinib||Preclinical - Cell culture||Actionable||In a preclinical study, a transformed cell line expressing ALK R1192P was sensitive to Alunbrig (brigatinib) in culture, resulting in cell growth inhibition (PMID: 27049722).||27049722|
|ALK R1192P||malignant pheochromocytoma||no benefit||Alectinib + Octreotide||Case Reports/Case Series||Actionable||In a clinical case study, addition of Alecensa (alectinib) to Octreotide treatment did not lead to a response in a patient with malignant pheochromocytoma harboring ALK R1192P, with a radiological stable disease after 1 month of treatment and disease progression after 5 months of treatment (PMID: 34371380).||34371380|
|ALK R1192P||malignant pheochromocytoma||predicted - sensitive||Brigatinib||Case Reports/Case Series||Actionable||In a clinical case study, Alunbrig (brigatinib) treatment resulted in a partial response (PR) after 2 months of therapy and a sustained PR at 10 months in a patient with malignant pheochromocytoma harboring ALK R1192P (PMID: 34371380).||34371380|
|ALK R1192P||Advanced Solid Tumor||sensitive||Repotrectinib||Preclinical - Cell culture||Actionable||In a preclinical study, Repotrectinib (TPX-0005) decreased Alk phosphorylation and neurite outgrowth in cells expressing ALK R1192P in culture (PMID: 31852910).||31852910|