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Ref Type | Journal Article | ||||||||||||
PMID | (35917491) | ||||||||||||
Authors | Cohen-Gogo S, Kanwar N, Shaikh F, Baertschiger RM, Shlien A, Malkin D, Putra J, Coblentz A, Villani A, Gupta AA, Morgenstern DA | ||||||||||||
Title | Response to Alpelisib in an Adolescent With PIK3CA-Mutated Metastatic Gastrointestinal Stromal Tumor. | ||||||||||||
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Abstract Text |
Molecular Profile | Treatment Approach |
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Gene Name | Source | Synonyms | Protein Domains | Gene Description | Gene Role |
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Therapy Name | Drugs | Efficacy Evidence | Clinical Trials |
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Drug Name | Trade Name | Synonyms | Drug Classes | Drug Description |
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Gene | Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
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PIK3CA | L10_P18del | deletion | unknown | PIK3CA L10_P18del results in the deletion of nine amino acids of the Pik3ca protein from amino acids 10 to 18 (UniProt.org). L10_P18del has been identified in the scientific literature (PMID: 35917491), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, May 2024). |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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PIK3CA L10_P18del PIK3CA E545K | gastrointestinal stromal tumor | predicted - sensitive | Alpelisib | Case Reports/Case Series | Actionable | In a clinical case study, Piqray (alpelisib) treatment resulted in symptom improvement and stable disease maintained for more than 12 months in an adolescent patient with SDH-deficient gastrointestinal stromal tumor (GIST) harboring PIK3CA E545K and PIK3CA L10_P18del (PMID: 35917491). | 35917491 |