Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?
A 50-year-old non-Hispanic white Caucasian female was diagnosed with breast cancer and was subsequently found to possess the tumorigenic ataxia telangiectasia mutated (ATM) and PALB2 variants but not the BRCA1 and BRCA2 variants. She visited the gynecologic oncology office for routine counseling abo...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Korean Society of Obstetrics and Gynecology
2020-03-01
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| Series: | Obstetrics & Gynecology Science |
| Subjects: | |
| Online Access: | http://www.ogscience.org/upload/pdf/ogs-63-205.pdf |
| _version_ | 1828853692577611776 |
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| author | Semiramis L. Carbajal-Mamani Merry J. Markham Joaquín Santolaya-Forgas Jacqueline C. Castagno Joel Cardenas-Goicoechea |
| author_facet | Semiramis L. Carbajal-Mamani Merry J. Markham Joaquín Santolaya-Forgas Jacqueline C. Castagno Joel Cardenas-Goicoechea |
| author_sort | Semiramis L. Carbajal-Mamani |
| collection | DOAJ |
| description | A 50-year-old non-Hispanic white Caucasian female was diagnosed with breast cancer and was subsequently found to possess the tumorigenic ataxia telangiectasia mutated (ATM) and PALB2 variants but not the BRCA1 and BRCA2 variants. She visited the gynecologic oncology office for routine counseling about risk-reducing salpingo-oophorectomy (RRSO). Although the patient was asymptomatic, an adnexal mass was discovered in the physical examination performed by palpation. Upon using pre-operative imaging techniques, an 8 cm complex adnexal mass was identified. Her CA-125 level was elevated. She underwent complete cytoreductive surgery. Pathological analysis showed a stage IC clear cell carcinoma of the left ovary; subsequently, she received 6 cycles of adjuvant chemotherapy with a combination of carboplatin and paclitaxel. The patient exhibited no signs ovarian cancer in a follow-up appointment after 32 months of treatment. However, bilateral RRSO is not recommended for patients positive for ATM and PALB2. Breast cancer patients with PALB2 and ATM mutations should extensively discuss the risks and benefits of RRSO in light of current data. |
| first_indexed | 2024-12-13T00:18:25Z |
| format | Article |
| id | doaj.art-51c33ce9ee564eb58bb6b7046a2ebbfa |
| institution | Directory Open Access Journal |
| issn | 2287-8572 2287-8580 |
| language | English |
| last_indexed | 2024-12-13T00:18:25Z |
| publishDate | 2020-03-01 |
| publisher | Korean Society of Obstetrics and Gynecology |
| record_format | Article |
| series | Obstetrics & Gynecology Science |
| spelling | doaj.art-51c33ce9ee564eb58bb6b7046a2ebbfa2022-12-22T00:05:42ZengKorean Society of Obstetrics and GynecologyObstetrics & Gynecology Science2287-85722287-85802020-03-0163220520810.5468/ogs.2020.63.2.205643Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy?Semiramis L. Carbajal-Mamani0Merry J. Markham1Joaquín Santolaya-Forgas2Jacqueline C. Castagno3Joel Cardenas-Goicoechea4Divisions of Internal Medicine, Department of Medicine, College of Medicine, University of Florida, Gainesville, FL, .USADivisions of Hematology and Oncology, Department of Medicine, College of Medicine, University of Florida, Gainesville, FL, .USADivisions of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, College of Medicine, University of Florida, Gainesville, FL, .USADivisions of Gynecologic Oncology, Department of Obstetrics and Gynecology, College of Medicine, University of Florida, Gainesville, FL, .USADivisions of Gynecologic Oncology, Department of Obstetrics and Gynecology, College of Medicine, University of Florida, Gainesville, FL, .USAA 50-year-old non-Hispanic white Caucasian female was diagnosed with breast cancer and was subsequently found to possess the tumorigenic ataxia telangiectasia mutated (ATM) and PALB2 variants but not the BRCA1 and BRCA2 variants. She visited the gynecologic oncology office for routine counseling about risk-reducing salpingo-oophorectomy (RRSO). Although the patient was asymptomatic, an adnexal mass was discovered in the physical examination performed by palpation. Upon using pre-operative imaging techniques, an 8 cm complex adnexal mass was identified. Her CA-125 level was elevated. She underwent complete cytoreductive surgery. Pathological analysis showed a stage IC clear cell carcinoma of the left ovary; subsequently, she received 6 cycles of adjuvant chemotherapy with a combination of carboplatin and paclitaxel. The patient exhibited no signs ovarian cancer in a follow-up appointment after 32 months of treatment. However, bilateral RRSO is not recommended for patients positive for ATM and PALB2. Breast cancer patients with PALB2 and ATM mutations should extensively discuss the risks and benefits of RRSO in light of current data.http://www.ogscience.org/upload/pdf/ogs-63-205.pdfpartner and localizer of brca2 proteinovarian neoplasmsalpingo-oophorectomy |
| spellingShingle | Semiramis L. Carbajal-Mamani Merry J. Markham Joaquín Santolaya-Forgas Jacqueline C. Castagno Joel Cardenas-Goicoechea Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy? Obstetrics & Gynecology Science partner and localizer of brca2 protein ovarian neoplasm salpingo-oophorectomy |
| title | Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy? |
| title_full | Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy? |
| title_fullStr | Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy? |
| title_full_unstemmed | Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy? |
| title_short | Germline , variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome: Is there a role for risk-reducing salpingo-oophorectomy? |
| title_sort | germline variants in a patient with breast and ovarian cancer at risk for familial cancer syndrome is there a role for risk reducing salpingo oophorectomy |
| topic | partner and localizer of brca2 protein ovarian neoplasm salpingo-oophorectomy |
| url | http://www.ogscience.org/upload/pdf/ogs-63-205.pdf |
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