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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 |
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 | 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, Oct 2020). |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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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 |