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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.
Abstract Text


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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
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 ( 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
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