Favorable Response to Olaparib in a Patient with Cancer of Unknown Primary Carrying a Germline BRCA1 R71K Mutation.
Xiaomeng JiaShanshan ZhaoXiang LiLi LvXin ChenEvenki PanQiuxiang OuChen SongSiwen SunJinbo ZhaoLingzhi XuMan LiPublished in: OncoTargets and therapy (2021)
The treatment options for cancer of unknown primary (CUP) are challenging due to the lack of knowledge about the primary sites, often resulting in a poor prognosis. The emerging next-generation sequencing (NGS) technique has provided a reliable approach to facilitate tumor primary site prediction and targetable gene alteration identification for CUP patients. In this report, we described a 63-year-old female patient who experienced recurrent CUP. NGS-based genetic profiling results revealed a pathogenic germline BRCA1 R71K mutation. Accordingly, the patient received the poly(adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitor olaparib treatment and demonstrated a favorable response to this treatment. Our case suggests that NGS holds great promise for providing improved diagnosis and treatment options to patients with CUP, warranting further clinical investigation.
Keyphrases
- poor prognosis
- case report
- papillary thyroid
- end stage renal disease
- dna repair
- copy number
- long non coding rna
- genome wide
- ejection fraction
- single cell
- chronic kidney disease
- newly diagnosed
- squamous cell
- peritoneal dialysis
- machine learning
- big data
- combination therapy
- patient reported outcomes
- dna methylation
- lymph node metastasis
- childhood cancer