Related Experiment Video
Updated: Nov 6, 2025

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
Rapid Response of a BRCA2/TP53/PTEN-Deleted Metastatic Uterine Leiomyosarcoma to Olaparib: A Case Report
Minggui Pan1,2, Kristen Ganjoo3, Amer Karam4
1Department of Oncology and Hematology, Kaiser Permanente, Santa Clara, CA.
Abstract:
Patients with metastatic uterine leiomyosarcoma (uLMS) have poor prognosis due to limited treatment options, especially when disease progresses on doxorubicin and gemcitabine-docetaxel regimens. Here we report a patient whose metastatic uLMS contains a BRCA2 deep deletion as well as TP53 and PTEN deep deletion. The patient responded rapidly to olaparib, a poly (ADP-ribose) polymerase inhibitor, after progressing on gemcitabine-docetaxel, doxorubicin, and temozolomide regimens. This case report shall be helpful to the treatment of other patients with metastatic uLMS that harbors a BRCA2 mutation or deletion.
Insights
Metastatic uterine leiomyosarcoma (uLMS) patients with BRCA2 deletions may benefit from olaparib. This poly (ADP-ribose) polymerase inhibitor shows promise after standard treatments fail.
Area of Science:
- Oncology
- Genetics
- Pharmacology
Background:
- Metastatic uterine leiomyosarcoma (uLMS) presents a poor prognosis with limited therapeutic strategies.
- Treatment resistance to conventional chemotherapies like doxorubicin and gemcitabine-docetaxel is common in advanced uLMS.
Observation:
- A patient with metastatic uLMS exhibited a deep deletion in BRCA2, alongside TP53 and PTEN deletions.
- The patient had previously undergone treatment with gemcitabine-docetaxel, doxorubicin, and temozolomide without success.
Findings:
- Rapid and significant clinical response was observed in the patient following treatment with olaparib.
- Olaparib, a poly (ADP-ribose) polymerase inhibitor, demonstrated efficacy in this refractory uLMS case.
Implications:
- This case highlights the potential of olaparib for treating metastatic uLMS harboring BRCA2 mutations or deletions.
- Identifying BRCA2 alterations could guide personalized treatment approaches for advanced uterine leiomyosarcoma.
- Further investigation into PARP inhibitors in uLMS with specific genetic profiles is warranted.

