BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report
A 66-year-old male was diagnosed with cT4N0M1b small-cell neuroendocrine carcinoma of the prostate. Four months after the administration of combined androgen blockade, multiple novel metastatic regions in the lung and liver and progression of bone metastasis were observed. The patient was referred t...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-08-01
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| Series: | Case Reports in Oncology |
| Subjects: | |
| Online Access: | https://beta.karger.com/Article/FullText/531134 |
| _version_ | 1797690759069040640 |
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| author | Keisuke Okubo Shintaro Narita Atsushi Koizumi Yoshiko Takahashi Ryuichiro Sagehashi Kanami Mori Ryuta Sobu Hiromi Sato Soki Kashima Mizuki Kobayashi Ryohei Yamamoto Taketoshi Nara Kazuyuki Numakura Mitsuru Saito Hiroshi Nanjyo Tomonori Habuchi |
| author_facet | Keisuke Okubo Shintaro Narita Atsushi Koizumi Yoshiko Takahashi Ryuichiro Sagehashi Kanami Mori Ryuta Sobu Hiromi Sato Soki Kashima Mizuki Kobayashi Ryohei Yamamoto Taketoshi Nara Kazuyuki Numakura Mitsuru Saito Hiroshi Nanjyo Tomonori Habuchi |
| author_sort | Keisuke Okubo |
| collection | DOAJ |
| description | A 66-year-old male was diagnosed with cT4N0M1b small-cell neuroendocrine carcinoma of the prostate. Four months after the administration of combined androgen blockade, multiple novel metastatic regions in the lung and liver and progression of bone metastasis were observed. The patient was referred to our hospital because of biochemical and radiographic progression after four cycles of docetaxel as a first-line therapy for castration-resistant prostate cancer. Transurethral resection of the prostate and hepatic biopsy revealed small-cell carcinoma with positive expression of neuroendocrine markers. The FoundationOne CDx next-generation sequencing test revealed several pathogenic variants, including BRCA2 (W1692fs*3), KEAP1 (R320W), and TP53 (C2385) mutation. After four cycles of chemotherapy with carboplatin plus etoposide (CE), the metastatic regions regressed markedly. The prostate-specific antigen (PSA) and neuron-specific enolase (NSE) level decreased by 96.9% and 91.6%, respectively. However, 2 months after the completion of four cycles of CE, elevation of tumor marker levels, and re-growth of the metastatic regions were observed. Although olaparib, a poly (ADP-ribose) polymerase inhibitor (PARPi), achieved a 45.2% decrease in NSE, the patient rejected to continue therapy because of G2 adverse events. After receiving an additional two cycles of CE and one cycle of cabazitaxel, the patient died because of cancer progression 24 months after the initial treatment for prostate cancer. Here, we present a case of BRCA2-altered small-cell neuroendocrine prostate cancer treated with both platinum-containing chemotherapy and PARPi. Both therapies achieved an initial response; however, durable responses were not obtained. Additional discussion regarding the optimal treatment strategy for BRCA-altered small-cell/neuroendocrine prostate cancer is required. |
| first_indexed | 2024-03-12T02:03:45Z |
| format | Article |
| id | doaj.art-f2d15b40e88647d68f625a2c33fd5ce0 |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-03-12T02:03:45Z |
| publishDate | 2023-08-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-f2d15b40e88647d68f625a2c33fd5ce02023-09-07T07:56:38ZengKarger PublishersCase Reports in Oncology1662-65752023-08-0116162162710.1159/000531134531134BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case ReportKeisuke Okubo0https://orcid.org/0000-0002-8295-4726Shintaro Narita1https://orcid.org/0000-0003-2988-1860Atsushi Koizumi2Yoshiko Takahashi3Ryuichiro Sagehashi4Kanami Mori5Ryuta Sobu6Hiromi Sato7Soki Kashima8Mizuki Kobayashi9Ryohei Yamamoto10Taketoshi Nara11Kazuyuki Numakura12Mitsuru Saito13Hiroshi Nanjyo14Tomonori Habuchi15Department of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita Red Cross Hospital, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Omagari Kousei Medical Center, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanPathology, Akita University Hospital, Akita, JapanDepartment of Urology, Akita University Graduate School of Medicine, Akita, JapanA 66-year-old male was diagnosed with cT4N0M1b small-cell neuroendocrine carcinoma of the prostate. Four months after the administration of combined androgen blockade, multiple novel metastatic regions in the lung and liver and progression of bone metastasis were observed. The patient was referred to our hospital because of biochemical and radiographic progression after four cycles of docetaxel as a first-line therapy for castration-resistant prostate cancer. Transurethral resection of the prostate and hepatic biopsy revealed small-cell carcinoma with positive expression of neuroendocrine markers. The FoundationOne CDx next-generation sequencing test revealed several pathogenic variants, including BRCA2 (W1692fs*3), KEAP1 (R320W), and TP53 (C2385) mutation. After four cycles of chemotherapy with carboplatin plus etoposide (CE), the metastatic regions regressed markedly. The prostate-specific antigen (PSA) and neuron-specific enolase (NSE) level decreased by 96.9% and 91.6%, respectively. However, 2 months after the completion of four cycles of CE, elevation of tumor marker levels, and re-growth of the metastatic regions were observed. Although olaparib, a poly (ADP-ribose) polymerase inhibitor (PARPi), achieved a 45.2% decrease in NSE, the patient rejected to continue therapy because of G2 adverse events. After receiving an additional two cycles of CE and one cycle of cabazitaxel, the patient died because of cancer progression 24 months after the initial treatment for prostate cancer. Here, we present a case of BRCA2-altered small-cell neuroendocrine prostate cancer treated with both platinum-containing chemotherapy and PARPi. Both therapies achieved an initial response; however, durable responses were not obtained. Additional discussion regarding the optimal treatment strategy for BRCA-altered small-cell/neuroendocrine prostate cancer is required.https://beta.karger.com/Article/FullText/531134brca2neuroendocrine differentiationprostate cancersmall-cell carcinoma |
| spellingShingle | Keisuke Okubo Shintaro Narita Atsushi Koizumi Yoshiko Takahashi Ryuichiro Sagehashi Kanami Mori Ryuta Sobu Hiromi Sato Soki Kashima Mizuki Kobayashi Ryohei Yamamoto Taketoshi Nara Kazuyuki Numakura Mitsuru Saito Hiroshi Nanjyo Tomonori Habuchi BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report Case Reports in Oncology brca2 neuroendocrine differentiation prostate cancer small-cell carcinoma |
| title | BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report |
| title_full | BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report |
| title_fullStr | BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report |
| title_full_unstemmed | BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report |
| title_short | BRCA2 Frameshift Mutation in de novo Small-Cell Neuroendocrine Carcinoma of the Prostate: A Case Report |
| title_sort | brca2 frameshift mutation in de novo small cell neuroendocrine carcinoma of the prostate a case report |
| topic | brca2 neuroendocrine differentiation prostate cancer small-cell carcinoma |
| url | https://beta.karger.com/Article/FullText/531134 |
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