We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Dramatic, durable response to therapy in gBRCA2-mutated pancreas neuroendocrine carcinoma: opportunity and challenge.
- Authors
Keane, Fergus; Bajwa, Raazi; Selenica, Pier; Park, Wungki; Roehrl, Michael H.; Reis-Filho, Jorge S.; Mandelker, Diana; O'Reilly, Eileen M.
- Abstract
Poorly differentiated pancreatic neuroendocrine tumors (PDNEC), are a subtype of pancreatic cancer encompassing both small cell and large cell neuroendocrine carcinoma subtypes, and are characterized as distinct in terms of biology and prognosis compared to the more common pancreatic adenocarcinoma. Until recently, there has been a paucity of data on the genomic features of this cancer type. We describe a male patient diagnosed with PDNEC and extensive metastatic disease in the liver at diagnosis. Genomic analysis demonstrated a germline pathogenic variant in BRCA2 with somatic loss-of-heterozygosity of the BRCA2 wild-type allele. Following a favorable response to platinum-based chemotherapy (and the addition of immunotherapy), the patient received maintenance therapy with olaparib, which resulted in a further reduction on follow-up imaging (Fig. 1). After seventeen months of systemic control with olaparib, the patient developed symptomatic central nervous system metastases, which harboured a BRCA2 reversion mutation. No other sites of disease progression were observed. Herein, we report an exceptional outcome through the incorporation of a personalized management approach for a patient with a pancreatic PDNEC, guided by comprehensive genomic sequencing.
- Subjects
NEUROENDOCRINE tumors; PANCREATIC tumors; LIVER disease diagnosis; GENOMICS; PANCREAS; CENTRAL nervous system
- Publication
NPJ Precision Oncology, 2023, Vol 7, Issue 1, p1
- ISSN
2397-768X
- Publication type
Article
- DOI
10.1038/s41698-023-00376-x