دورية أكاديمية
Dramatic, durable response to therapy in gBRCA2-mutated pancreas neuroendocrine carcinoma: opportunity and challenge
| العنوان: | Dramatic, durable response to therapy in gBRCA2-mutated pancreas neuroendocrine carcinoma: opportunity and challenge |
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| المؤلفون: | Fergus Keane, Raazi Bajwa, Pier Selenica, Wungki Park, Michael H. Roehrl, Jorge S. Reis-Filho, Diana Mandelker, Eileen M. O’Reilly |
| المصدر: | npj Precision Oncology, Vol 7, Iss 1, Pp 1-8 (2023) |
| بيانات النشر: | Nature Portfolio |
| سنة النشر: | 2023 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 2397-768X |
| العلاقة: | https://doi.org/10.1038/s41698-023-00376-xTest; https://doaj.org/toc/2397-768XTest; https://doaj.org/article/190db58c7ab44bb79fe3e0deef0cefb6Test |
| DOI: | 10.1038/s41698-023-00376-x |
| الإتاحة: | https://doi.org/10.1038/s41698-023-00376-xTest https://doaj.org/article/190db58c7ab44bb79fe3e0deef0cefb6Test |
| رقم الانضمام: | edsbas.40004F72 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 2397768X |
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| DOI: | 10.1038/s41698-023-00376-x |