Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report
Malignant mixed müllerian tumor (MMMT) is a rare neoplasm, consisting of carcinomatous (epithelial) and sarcomatous (mesenchymal) components that most commonly arise in the endometrium and more infrequently in the ovaries, fallopian tube, cervix, and vagina. Primary peritoneal carcinosarcoma (PPCS)...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2024-01-01
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| Series: | Case Reports in Oncology |
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| Online Access: | https://beta.karger.com/Article/FullText/534179 |
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| author | Luciana Beatriz Mendes Gomes Renata Lazari Sandoval Camila Bragança Xavier Tatiana Strava Correa Raquel Midori Koga Matuda Zenaide Silva de Souza Luiz Guilherme Cernaglia Aureliano de Lima Mariana Petaccia de Macedo Filomena Marino Carvalho Daniele Assad Suzuki |
| author_facet | Luciana Beatriz Mendes Gomes Renata Lazari Sandoval Camila Bragança Xavier Tatiana Strava Correa Raquel Midori Koga Matuda Zenaide Silva de Souza Luiz Guilherme Cernaglia Aureliano de Lima Mariana Petaccia de Macedo Filomena Marino Carvalho Daniele Assad Suzuki |
| author_sort | Luciana Beatriz Mendes Gomes |
| collection | DOAJ |
| description | Malignant mixed müllerian tumor (MMMT) is a rare neoplasm, consisting of carcinomatous (epithelial) and sarcomatous (mesenchymal) components that most commonly arise in the endometrium and more infrequently in the ovaries, fallopian tube, cervix, and vagina. Primary peritoneal carcinosarcoma (PPCS) is an extremely rare extragenital presentation of MMMT. Although the occurrence of breast cancer and epithelial ovarian carcinoma in association with BRCA pathogenic variants is firmly established, the etiologic role of these genes in the development of other tumor types is less well known. Here, we present a rare case of PPCS in a 42-year-old Brazilian woman with a BRCA2 pathogenic variant, c.2808_2811del (NM_000059.3). The patient developed metastatic breast cancer at the age of 37 and underwent a risk-reducing bilateral salpingo-oophorectomy 2 years later. She was then diagnosed with PPCS 3 years after the risk-reducing surgery. She underwent treatment with surgery, chemotherapy, and targeted therapy but passed away almost 5 years after the second primary tumor diagnosis. To our knowledge, this is the first case of peritoneal carcinosarcoma described in a BRCA2 pathogenic variant carrier, and its report leads to a better understanding of the disease’s molecular features and possible therapeutic approaches. |
| first_indexed | 2024-03-08T08:52:36Z |
| format | Article |
| id | doaj.art-c7114bc99ed947dabb1548b4fbd062a6 |
| institution | Directory Open Access Journal |
| issn | 1662-6575 |
| language | English |
| last_indexed | 2024-03-08T08:52:36Z |
| publishDate | 2024-01-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Oncology |
| spelling | doaj.art-c7114bc99ed947dabb1548b4fbd062a62024-02-01T08:03:26ZengKarger PublishersCase Reports in Oncology1662-65752024-01-011711910.1159/000534179534179Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case ReportLuciana Beatriz Mendes Gomes0Renata Lazari Sandoval1Camila Bragança Xavier2Tatiana Strava Correa3Raquel Midori Koga Matuda4Zenaide Silva de Souza5Luiz Guilherme Cernaglia Aureliano de Lima6Mariana Petaccia de Macedo7Filomena Marino Carvalho8Daniele Assad Suzuki9Oncology Center, Hospital Sirio-Libanes, Brasilia, BrazilOncology Center, Hospital Sirio-Libanes, Brasilia, BrazilOncology Center, Hospital Sirio-Libanes, São Paulo, BrazilOncology Center, Hospital Sirio-Libanes, Brasilia, BrazilOncology Center, Hospital Sirio-Libanes, Brasilia, BrazilOncology Center, Hospital Sirio-Libanes, Brasilia, BrazilDepartment of Pathology, Hospital Sirio-Libanes, São Paulo, BrazilDepartment of Pathology, Hospital Sirio-Libanes, São Paulo, BrazilDepartment of Pathology, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, BrazilOncology Center, Hospital Sirio-Libanes, Brasilia, BrazilMalignant mixed müllerian tumor (MMMT) is a rare neoplasm, consisting of carcinomatous (epithelial) and sarcomatous (mesenchymal) components that most commonly arise in the endometrium and more infrequently in the ovaries, fallopian tube, cervix, and vagina. Primary peritoneal carcinosarcoma (PPCS) is an extremely rare extragenital presentation of MMMT. Although the occurrence of breast cancer and epithelial ovarian carcinoma in association with BRCA pathogenic variants is firmly established, the etiologic role of these genes in the development of other tumor types is less well known. Here, we present a rare case of PPCS in a 42-year-old Brazilian woman with a BRCA2 pathogenic variant, c.2808_2811del (NM_000059.3). The patient developed metastatic breast cancer at the age of 37 and underwent a risk-reducing bilateral salpingo-oophorectomy 2 years later. She was then diagnosed with PPCS 3 years after the risk-reducing surgery. She underwent treatment with surgery, chemotherapy, and targeted therapy but passed away almost 5 years after the second primary tumor diagnosis. To our knowledge, this is the first case of peritoneal carcinosarcoma described in a BRCA2 pathogenic variant carrier, and its report leads to a better understanding of the disease’s molecular features and possible therapeutic approaches.https://beta.karger.com/Article/FullText/534179primary peritoneal carcinosarcomagermline brca2 pathogenic variantcase report |
| spellingShingle | Luciana Beatriz Mendes Gomes Renata Lazari Sandoval Camila Bragança Xavier Tatiana Strava Correa Raquel Midori Koga Matuda Zenaide Silva de Souza Luiz Guilherme Cernaglia Aureliano de Lima Mariana Petaccia de Macedo Filomena Marino Carvalho Daniele Assad Suzuki Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report Case Reports in Oncology primary peritoneal carcinosarcoma germline brca2 pathogenic variant case report |
| title | Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report |
| title_full | Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report |
| title_fullStr | Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report |
| title_full_unstemmed | Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report |
| title_short | Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report |
| title_sort | primary peritoneal carcinosarcoma in a breast cancer patient harboring a germline brca2 pathogenic variant case report |
| topic | primary peritoneal carcinosarcoma germline brca2 pathogenic variant case report |
| url | https://beta.karger.com/Article/FullText/534179 |
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