Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation
We report a 62-year-old patient with uterine carcinosarcoma associated with a germline mutation in the NBN gene which is involved in the homologous recombination repair (HRR) pathway. This patient responded well to several different treatment strategies including platinum-based chemotherapy twice, P...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-04-01
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| Series: | Gynecologic Oncology Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352578922000595 |
| _version_ | 1818274703947595776 |
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| author | Tahireh Markert David L. Kolin Panagiotis A. Konstantinopoulos |
| author_facet | Tahireh Markert David L. Kolin Panagiotis A. Konstantinopoulos |
| author_sort | Tahireh Markert |
| collection | DOAJ |
| description | We report a 62-year-old patient with uterine carcinosarcoma associated with a germline mutation in the NBN gene which is involved in the homologous recombination repair (HRR) pathway. This patient responded well to several different treatment strategies including platinum-based chemotherapy twice, PARP inhibitor therapy and immunotherapy, and is currently alive and with disease control, more than four years after diagnosis. This case is the first report of uterine carcinosarcoma associated with a germline mutation in NBN and highlights how specific genomic alterations may guide treatment decisions that may alter the natural history of an otherwise devastating disease. |
| first_indexed | 2024-12-12T22:18:05Z |
| format | Article |
| id | doaj.art-68708be0fb2f409ea17c75d17be87122 |
| institution | Directory Open Access Journal |
| issn | 2352-5789 |
| language | English |
| last_indexed | 2024-12-12T22:18:05Z |
| publishDate | 2022-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Gynecologic Oncology Reports |
| spelling | doaj.art-68708be0fb2f409ea17c75d17be871222022-12-22T00:10:01ZengElsevierGynecologic Oncology Reports2352-57892022-04-0140100979Uterine carcinosarcoma associated with a germline nibrin (NBN) mutationTahireh Markert0David L. Kolin1Panagiotis A. Konstantinopoulos2DFCI, United StatesBWH, United StatesDFCI, United States; Corresponding author at: Director of Center of BRCA and Related Genes, Director of Translational Research, Division of Gynecologic Oncology, Dana-Farber Cancer Institute, Associate Professor of Medicine, Harvard Medical School, Yawkey Center for Cancer Care, YC-1424, 450 Brookline Ave, Boston, MA, 02215, United States.We report a 62-year-old patient with uterine carcinosarcoma associated with a germline mutation in the NBN gene which is involved in the homologous recombination repair (HRR) pathway. This patient responded well to several different treatment strategies including platinum-based chemotherapy twice, PARP inhibitor therapy and immunotherapy, and is currently alive and with disease control, more than four years after diagnosis. This case is the first report of uterine carcinosarcoma associated with a germline mutation in NBN and highlights how specific genomic alterations may guide treatment decisions that may alter the natural history of an otherwise devastating disease.http://www.sciencedirect.com/science/article/pii/S2352578922000595NibrinNBNGermlineUterineCarcinosarcomaEndometrial cancer |
| spellingShingle | Tahireh Markert David L. Kolin Panagiotis A. Konstantinopoulos Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation Gynecologic Oncology Reports Nibrin NBN Germline Uterine Carcinosarcoma Endometrial cancer |
| title | Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation |
| title_full | Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation |
| title_fullStr | Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation |
| title_full_unstemmed | Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation |
| title_short | Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation |
| title_sort | uterine carcinosarcoma associated with a germline nibrin nbn mutation |
| topic | Nibrin NBN Germline Uterine Carcinosarcoma Endometrial cancer |
| url | http://www.sciencedirect.com/science/article/pii/S2352578922000595 |
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