Remarkable Response to Olaparib in a Patient with Combined Hepatocellular-Cholangiocarcinoma Harboring a Biallelic BRCA2 Mutation
| Autor: | Yi-hua Jan, Yu-Li Su, Yi-Lin Hsieh, Chia-Ling Wu, Ca Tung Ng, Kien Thiam Tan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
BAP1
business.industry PALB2 BRCA2 mutation Case Report Malignancy medicine.disease olaparib Gemcitabine Olaparib CRKL chemistry.chemical_compound Oncology chemistry CDKN2A precision oncology Genomic Profile medicine Cancer research comprehensive genomic panel Pharmacology (medical) business neoplasms medicine.drug combined hepatocellular cholangiocarcinoma |
| Zdroj: | OncoTargets and therapy |
| ISSN: | 1178-6930 |
| Popis: | Combined hepatocellular cholangiocarcinoma (cHCC-CC) is a rare subtype of primary liver malignancy characterized by aggressive behavior and poor prognosis. Radial surgical resection is the standard curative treatment. However, effective therapeutic options for recurrent or metastatic cHCC-CC are still lacking, mainly because of an insufficient understanding of the molecular and genomic alterations of cHCC-CC, preventing the discovery of specialized targeting therapy. Here, we present the case of a patient with metastatic cHCC-CC on first-line treatment of gemcitabine, cisplatin, and nab-paclitaxel. A comprehensive genomic profile revealed four clinically relevant single nucleotide variants (BRCA2, PIK3C2G, RET, and TP53), two amplified genomic regions (CRKL and MAPK1), and 11 heterozygous genomic deletions (BAP1, CDKN2A, PTCH1, TSC1, BRCA2, RB1, RAD51, PALB2, TSC2, SMAD4, and STK11). The patient underwent olaparib treatment and achieved a remarkable and sustained tumor response. Our experience indicates that BRCA2 mutations could be a potential therapeutic target for patients with cHCC-CC. |
| Databáze: | OpenAIRE |
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