Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report
Mediastinal yolk sac tumors (YSTs) are highly aggressive germ cell tumors with an extremely poor prognosis. Radiotherapy plays an important role in the treatment of mediastinal YSTs. To maximize benefit from radiotherapy in patients with mediastinal YSTs, exploring functionally relevant biomarkers i...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2022-12-01
|
| Series: | Cancer Biology & Therapy |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/15384047.2022.2072635 |
| _version_ | 1827595111828029440 |
|---|---|
| author | Xi Cheng Haiming Yu Jinying Li Xiaona Han Erhong Meng Houqing Zhou Dongliang Wang Beifang Niu Xiaotao Zhang |
| author_facet | Xi Cheng Haiming Yu Jinying Li Xiaona Han Erhong Meng Houqing Zhou Dongliang Wang Beifang Niu Xiaotao Zhang |
| author_sort | Xi Cheng |
| collection | DOAJ |
| description | Mediastinal yolk sac tumors (YSTs) are highly aggressive germ cell tumors with an extremely poor prognosis. Radiotherapy plays an important role in the treatment of mediastinal YSTs. To maximize benefit from radiotherapy in patients with mediastinal YSTs, exploring functionally relevant biomarkers is essential. Previous studies have demonstrated that mutations in DNA-damage repair (DDR) genes, including BRCA1/2, potentially enhance sensitivity to radiotherapy in solid tumors. However, DDR-gene mutations, as possible predictive biomarkers for radiotherapy in primary mediastinal YSTs, have not yet been reported. Herein, we report a 29-year-old male patient with a refractory metastatic primary YST involving a germline frameshift mutation in the BRCA2 gene (NM_000059.3: exon11: c.4563_4564delAT: L1522fs). During treatment alternation, the patient was found to respond poorly to chemotherapy with or without an immune checkpoint inhibitor but well to radiotherapy. Finally, the patient achieved approximately 17 months of overall survival. To the best of our knowledge, this case report is the first to describe a remarkable response to local radiotherapy in a patient with a refractory metastatic mediastinal YST involving a DDR-gene mutation (germline BRCA2 frameshift variation). This case report provides insightful clues for precision radiotherapy in clinical practice. |
| first_indexed | 2024-03-09T02:47:07Z |
| format | Article |
| id | doaj.art-2f00b404a47c42f78a18a12d4396e3e0 |
| institution | Directory Open Access Journal |
| issn | 1538-4047 1555-8576 |
| language | English |
| last_indexed | 2024-03-09T02:47:07Z |
| publishDate | 2022-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Cancer Biology & Therapy |
| spelling | doaj.art-2f00b404a47c42f78a18a12d4396e3e02023-12-05T15:58:13ZengTaylor & Francis GroupCancer Biology & Therapy1538-40471555-85762022-12-0123139340010.1080/15384047.2022.20726352072635Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case reportXi Cheng0Haiming Yu1Jinying Li2Xiaona Han3Erhong Meng4Houqing Zhou5Dongliang Wang6Beifang Niu7Xiaotao Zhang8The Affiliated Qingdao Central Hospital of Qingdao UniversityThe Affiliated Qingdao Central Hospital of Qingdao UniversityThe Affiliated Qingdao Central Hospital of Qingdao UniversityThe Affiliated Qingdao Central Hospital of Qingdao UniversityChosenMed Technology (Beijing) Co., LtdChosenMed Technology (Beijing) Co., LtdChosenMed Technology (Beijing) Co., LtdChosenMed Technology (Beijing) Co., LtdThe Affiliated Qingdao Central Hospital of Qingdao UniversityMediastinal yolk sac tumors (YSTs) are highly aggressive germ cell tumors with an extremely poor prognosis. Radiotherapy plays an important role in the treatment of mediastinal YSTs. To maximize benefit from radiotherapy in patients with mediastinal YSTs, exploring functionally relevant biomarkers is essential. Previous studies have demonstrated that mutations in DNA-damage repair (DDR) genes, including BRCA1/2, potentially enhance sensitivity to radiotherapy in solid tumors. However, DDR-gene mutations, as possible predictive biomarkers for radiotherapy in primary mediastinal YSTs, have not yet been reported. Herein, we report a 29-year-old male patient with a refractory metastatic primary YST involving a germline frameshift mutation in the BRCA2 gene (NM_000059.3: exon11: c.4563_4564delAT: L1522fs). During treatment alternation, the patient was found to respond poorly to chemotherapy with or without an immune checkpoint inhibitor but well to radiotherapy. Finally, the patient achieved approximately 17 months of overall survival. To the best of our knowledge, this case report is the first to describe a remarkable response to local radiotherapy in a patient with a refractory metastatic mediastinal YST involving a DDR-gene mutation (germline BRCA2 frameshift variation). This case report provides insightful clues for precision radiotherapy in clinical practice.http://dx.doi.org/10.1080/15384047.2022.2072635mediastinal yolk sac tumorsradiotherapydna-damage repairbrca2case report |
| spellingShingle | Xi Cheng Haiming Yu Jinying Li Xiaona Han Erhong Meng Houqing Zhou Dongliang Wang Beifang Niu Xiaotao Zhang Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report Cancer Biology & Therapy mediastinal yolk sac tumors radiotherapy dna-damage repair brca2 case report |
| title | Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report |
| title_full | Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report |
| title_fullStr | Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report |
| title_full_unstemmed | Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report |
| title_short | Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report |
| title_sort | dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline brca2 frameshift mutation a case report |
| topic | mediastinal yolk sac tumors radiotherapy dna-damage repair brca2 case report |
| url | http://dx.doi.org/10.1080/15384047.2022.2072635 |
| work_keys_str_mv | AT xicheng dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT haimingyu dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT jinyingli dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT xiaonahan dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT erhongmeng dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT houqingzhou dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT dongliangwang dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT beifangniu dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport AT xiaotaozhang dramaticresponsetolocalradiotherapyinarefractorymetastaticmediastinalyolksactumorpatientharboringagermlinebrca2frameshiftmutationacasereport |