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Ref Type
PMID (32193631)
Authors Bleckmann A, Dierks S, Schildhaus HU, Hellige N, Bacher U, Trümper L, Wulf G
Title Treatment response to idelalisib in a patient with immunodeficiency-associated Burkitt lymphoma harboring a PIK3CA H1047R mutation.
Journal Annals of hematology
Vol
Issue
Date 2020 Mar 20
URL
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 Q1033R missense unknown PIK3CA Q1033R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). Q1033R has been identified in the scientific literature (PMID: 32193631), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Apr 2020).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA Q1033R PIK3CA H1047R Burkitt lymphoma predicted - sensitive Idelalisib Case Reports/Case Series Actionable In a clinical case study, Zydelig (idelalisib) treatment resulted in tumor shrinkage and decreased plasma LDH that continued for 10 months before recurrence in a patient with relapsed Burkitt lymphoma harboring PIK3CA H1047R and PIK3CA Q1033R (PMID: 32193631). 32193631