Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report
Abstract: 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.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
Primary Peritoneal Carcinosarcoma in a Breast Cancer Patient Harboring a Germline BRCA2 Pathogenic Variant: Case Report ; volume:17 ; number:1 ; year:2024 ; pages:1-9 ; extent:9
Case reports in oncology ; 17, Heft 1 (2024), 1-9 (gesamt 9)
- Creator
-
Mendes Gomes, Luciana Beatriz
Lazari Sandoval, Renata
Bragança Xavier, Camila
Strava Correa, Tatiana
Koga Matuda, Raquel Midori
Silva de Souza, Zenaide
Cernaglia Aureliano de Lima, Luiz Guilherme
Petaccia de Macedo, Mariana
Marino Carvalho, Filomena
Assad Suzuki, Daniele
- DOI
-
10.1159/000534179
- URN
-
urn:nbn:de:101:1-2406270056456.061375875993
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:59 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Mendes Gomes, Luciana Beatriz
- Lazari Sandoval, Renata
- Bragança Xavier, Camila
- Strava Correa, Tatiana
- Koga Matuda, Raquel Midori
- Silva de Souza, Zenaide
- Cernaglia Aureliano de Lima, Luiz Guilherme
- Petaccia de Macedo, Mariana
- Marino Carvalho, Filomena
- Assad Suzuki, Daniele
Other Objects (12)
Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report
Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series
A Case of Triple-Negative Breast Cancer with Germline Pathogenic Variants in Both BRCA1 and BRCA2
Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
The germline mutational landscape of BRCA1 and BRCA2 in Brazil
BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
BRCA2 germline mutation carrier with five malignancies: a case report
BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition
Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report
Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series
A Case of Triple-Negative Breast Cancer with Germline Pathogenic Variants in Both BRCA1 and BRCA2
Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
The germline mutational landscape of BRCA1 and BRCA2 in Brazil
BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
BRCA2 germline mutation carrier with five malignancies: a case report
BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition
Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
Myxofibrosarcoma harboring an MLH1 pathogenic germline variant associated with Muir-Torre syndrome: a case report
Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series
A Case of Triple-Negative Breast Cancer with Germline Pathogenic Variants in Both BRCA1 and BRCA2
Germline multigene panel testing revealed a BRCA2 pathogenic variant in a patient with suspected Lynch syndrome
COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
The germline mutational landscape of BRCA1 and BRCA2 in Brazil
BRCA1 and BRCA2 germline mutation analysis in the Indonesian population
BRCA2 germline mutation carrier with five malignancies: a case report
BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients