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Ref Type Journal Article
PMID (33745098)
Authors Pan S, Li S, Xiao M, Chen D, Li J
Title Significant benefit of everolimus in a patient with urothelial bladder cancer harboring a rare M1043I mutation of PIK3CA.
Journal Investigational new drugs
Vol
Issue
Date 2021 Mar 20
URL
Abstract Text Urothelial bladder cancer (UBC) is a common malignancy with considerable mortality worldwide. However, the treatment options of UBC are mainly chemotherapy and immunotherapy, as few targeted agents have demonstrated efficacy against UBC. In recent studies, everolimus has exhibited antitumor activity in patients harboring aberrations in the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt)/ mammalian target of rapamycin (mTOR) pathway in multiple tumor types. Herein, we report the case of a patient with metastatic UBC harboring a rare M1043I mutation of PIK3CA which was detected using DNA-based next-generation sequencing. The patient received everolimus as first-line therapy after palliative transurethral resection. The treatment resulted in complete response within 1 month, and the patient achieved a progression-free survival (PFS) of >6 months according to reports from the last follow-up visit. To our knowledge, this is the first reported case of PIK3CA-mutant UBC for which everolimus therapy demonstrated a significant benefit suggesting that the rare M1043I mutation variant may be a potential biomarker of sensitivity to everolimus. Further insights into its mechanism and clinical studies are needed to clarify the effectiveness of everolimus therapy in patients with PIK3CA M1043I mutation.

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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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA M1043I PIK3CA amp bladder urothelial carcinoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic urothelial bladder cancer harboring PIK3CA M1043I and PIK3CA amplification (copy number >20), as well as amplification of CCND1 and loss of CDKN2A and CDKN2B, was treated with Afinitor (everolimus) and achieved a complete response including remission of lymph node metastases, and remained progression-free at 6 months (PMID: 33745098). 33745098