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|Profile Name||JAK2 inact mut|
|Gene Variant Detail|
|Relevant Treatment Approaches|
|Molecular Profile||Indication/Tumor Type||Response Type||Relevant Treatment Approaches||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|JAK2 inact mut||melanoma||predicted - resistant||Pembrolizumab||Case Reports/Case Series||Actionable||In a clinical study, a melanoma patient treated with Keytruda (pembrolizumab) initially demonstrated a partial response, however, post 734 days developed disease progression due to a splice site mutation in JAK2, which resulted in an intron inclusion and an early stop codon, leading to a loss of protein expression (PMID: 27433843).||27433843|
|Clinical Trial||Phase||Therapies||Title||Recruitment Status||Covered Countries||Other Countries|