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Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next
Ji-Yeon Kim1,2, Hyoung-Oh Jeong3,4, Dae Seog Heo2,5
1Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Background:
Papillary renal cell carcinoma type 2 (PRCC2) is refractory to systemic treatment and has a dismal prognosis. Previous studies showed that genetic alterations in PRCC2 were heterogeneous regardless of germline or somatic mutations. In this study, we aimed to perform precision treatment of PRCC2 based on genetic information.
Methods:
We performed exome and genome sequencing of tumor tissues and matched normal samples. Based on sequencing data, we treated patients with metastatic PRCC2 using precision oncology.
Results:
Four patients underwent curative surgery of PRCC2 and three patients had metastatic PRCC2. All PRCC2 heterogeneously harbored own driver mutations. Two out of the three patients with metastatic disease had fumarate hydratase (FH) germline mutations. One patient with a germline FH mutation was diagnosed with hereditary leiomyomatosis RCC. He was treated with bevacizumab and erlotinib combination and showed a durable response. The other metastatic PRCC2 patient harboring a germline FH mutation had an additional somatic FH mutation and was durably controlled with pazopanib. Other metastatic PRCC2 patient with somatic PBRM1 and SETD2 mutations had over 5 years of overall survival with axitinib treatment.
Conclusions:
We performed precision systemic treatment based on genetic information. Genome sequencing could help identify candidates for targeted therapy in PRCC2, a genetically heterogeneous disease.
Insights
Precision oncology offers new hope for papillary renal cell carcinoma type 2 (PRCC2). Genetic sequencing identified specific mutations, guiding targeted therapies like bevacizumab, erlotinib, and pazopanib for improved patient outcomes in this rare cancer.
Area of Science:
- Oncology
- Genetics
- Genomics
Background:
- Papillary renal cell carcinoma type 2 (PRCC2) presents a significant clinical challenge due to its resistance to conventional systemic treatments and poor prognosis.
- Genetic analyses reveal substantial heterogeneity in PRCC2, encompassing both germline and somatic mutations, complicating treatment strategies.
Purpose of the Study:
- To investigate the utility of precision oncology in treating PRCC2 by integrating genetic sequencing data with therapeutic interventions.
- To correlate specific genetic alterations in PRCC2 tumors with patient responses to targeted therapies.
Main Methods:
- Whole exome and genome sequencing were performed on tumor and matched normal samples from PRCC2 patients.
- Precision oncology treatment strategies were developed and applied based on the identified genetic profiles of metastatic PRCC2.
Main Results:
- Tumor genetic profiles were heterogeneous across all PRCC2 patients studied.
- Two of three metastatic PRCC2 patients possessed germline fumarate hydratase (FH) mutations; one with hereditary leiomyomatosis and RCC responded durably to bevacizumab and erlotinib.
- A metastatic PRCC2 patient with both germline and somatic FH mutations achieved durable control with pazopanib.
- Another patient with somatic PBRM1 and SETD2 mutations experienced over 5 years of overall survival with axitinib.
Conclusions:
- Genome sequencing is a valuable tool for identifying therapeutic targets in genetically diverse PRCC2.
- Precision systemic treatment guided by genetic information demonstrates potential for improving outcomes in PRCC2 patients.
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