BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient
Objective: Ovarian cancers exhibit very heterogeneous genetic and genomic aberrations with various pathogenetic and prognostic values. Chromosome 22 abnormalities, including del(22q) and duplications, are genetic multisystemic disorders, most commonly affecting cardiovascular, immune, and gastrointe...
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Elsevier
2025-06-01
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| Series: | Gynecologic Oncology Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352578925001018 |
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| author | Maria Antonietta Castaldi Nadia Petrillo Carmine Selleri Monica Ianniello Anna Maria Della Corte Eloisa Evangelista Luigia De Falco Roberto Sirica Marika Casillo Alessia Caleo Alessandro Caputo Pio Zeppa Salvatore Giovanni Castaldi Pasqualina Scala Bianca Serio Giovanni Savarese Valentina Giudice |
| author_facet | Maria Antonietta Castaldi Nadia Petrillo Carmine Selleri Monica Ianniello Anna Maria Della Corte Eloisa Evangelista Luigia De Falco Roberto Sirica Marika Casillo Alessia Caleo Alessandro Caputo Pio Zeppa Salvatore Giovanni Castaldi Pasqualina Scala Bianca Serio Giovanni Savarese Valentina Giudice |
| author_sort | Maria Antonietta Castaldi |
| collection | DOAJ |
| description | Objective: Ovarian cancers exhibit very heterogeneous genetic and genomic aberrations with various pathogenetic and prognostic values. Chromosome 22 abnormalities, including del(22q) and duplications, are genetic multisystemic disorders, most commonly affecting cardiovascular, immune, and gastrointestinal systems, while tumors are rarely reported. Methods: In this case report, we described a patient with 22q11.2 deletion syndrome who developed a papillary high-grade serous ovarian cystadenocarcinoma, and targeted- and whole-exome sequencing for genomic alterations identification and RNA-sequencing for transcriptomics analysis were performed. Results: Whole exome sequencing identified a B-Raf proto-oncogene, Serine/Threonine kinase (BRAF) V600E mutation, along with other somatic mutations, including BARD1 missense variant. Constitutional activation of the BRAF protein and its tumorigenic role in our patient was confirmed by upregulation of its downstream KRAS signaling pathway in tumor tissue compared to circulating cells. Conclusion: BRAF pathways could be involved in the molecular biology of papillary high-grade serous ovarian cystadenocarcinoma in a setting of 22q11.2 deletion syndrome. |
| format | Article |
| id | doaj-art-efafd7425436451ca6cc69a5e6e67c11 |
| institution | OA Journals |
| issn | 2352-5789 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Gynecologic Oncology Reports |
| spelling | doaj-art-efafd7425436451ca6cc69a5e6e67c112025-08-20T02:10:02ZengElsevierGynecologic Oncology Reports2352-57892025-06-015910177610.1016/j.gore.2025.101776BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patientMaria Antonietta Castaldi0Nadia Petrillo1Carmine Selleri2Monica Ianniello3Anna Maria Della Corte4Eloisa Evangelista5Luigia De Falco6Roberto Sirica7Marika Casillo8Alessia Caleo9Alessandro Caputo10Pio Zeppa11Salvatore Giovanni Castaldi12Pasqualina Scala13Bianca Serio14Giovanni Savarese15Valentina Giudice16High Risk Pregnancy Unit, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, Italy; Department of Medicine, Surgery, and Dentistry, University of Salerno, 84081 Baronissi, ItalyAmes Center s.r.l, Casalnuovo di Naples, Naples, ItalyDepartment of Medicine, Surgery, and Dentistry, University of Salerno, 84081 Baronissi, Italy; Hematology and Transplant Center, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, Italy; Corresponding authors at: Department of Medicine, Surgery, and Dentistry, University of Salerno, 84081 Baronissi, Italy.Ames Center s.r.l, Casalnuovo di Naples, Naples, ItalyHematology and Transplant Center, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, ItalyAmes Center s.r.l, Casalnuovo di Naples, Naples, ItalyAmes Center s.r.l, Casalnuovo di Naples, Naples, ItalyAmes Center s.r.l, Casalnuovo di Naples, Naples, ItalyAmes Center s.r.l, Casalnuovo di Naples, Naples, ItalyAnatomy Pathology, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, ItalyAnatomy Pathology, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, ItalyAnatomy Pathology, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, ItalyDepartment of Medicine, Surgery, and Dentistry, University of Salerno, 84081 Baronissi, ItalyDepartment of Medicine, Surgery, and Dentistry, University of Salerno, 84081 Baronissi, Italy; Hematology and Transplant Center, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, ItalyHematology and Transplant Center, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, ItalyAmes Center s.r.l, Casalnuovo di Naples, Naples, ItalyDepartment of Medicine, Surgery, and Dentistry, University of Salerno, 84081 Baronissi, Italy; Hematology and Transplant Center, University Hospital “San Giovanni di Dio e Ruggi d’Aragona”, 84131 Salerno, Italy; Corresponding authors at: Department of Medicine, Surgery, and Dentistry, University of Salerno, 84081 Baronissi, Italy.Objective: Ovarian cancers exhibit very heterogeneous genetic and genomic aberrations with various pathogenetic and prognostic values. Chromosome 22 abnormalities, including del(22q) and duplications, are genetic multisystemic disorders, most commonly affecting cardiovascular, immune, and gastrointestinal systems, while tumors are rarely reported. Methods: In this case report, we described a patient with 22q11.2 deletion syndrome who developed a papillary high-grade serous ovarian cystadenocarcinoma, and targeted- and whole-exome sequencing for genomic alterations identification and RNA-sequencing for transcriptomics analysis were performed. Results: Whole exome sequencing identified a B-Raf proto-oncogene, Serine/Threonine kinase (BRAF) V600E mutation, along with other somatic mutations, including BARD1 missense variant. Constitutional activation of the BRAF protein and its tumorigenic role in our patient was confirmed by upregulation of its downstream KRAS signaling pathway in tumor tissue compared to circulating cells. Conclusion: BRAF pathways could be involved in the molecular biology of papillary high-grade serous ovarian cystadenocarcinoma in a setting of 22q11.2 deletion syndrome.http://www.sciencedirect.com/science/article/pii/S2352578925001018DiGeorge syndromeBRAFOvarian tumor |
| spellingShingle | Maria Antonietta Castaldi Nadia Petrillo Carmine Selleri Monica Ianniello Anna Maria Della Corte Eloisa Evangelista Luigia De Falco Roberto Sirica Marika Casillo Alessia Caleo Alessandro Caputo Pio Zeppa Salvatore Giovanni Castaldi Pasqualina Scala Bianca Serio Giovanni Savarese Valentina Giudice BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient Gynecologic Oncology Reports DiGeorge syndrome BRAF Ovarian tumor |
| title | BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient |
| title_full | BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient |
| title_fullStr | BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient |
| title_full_unstemmed | BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient |
| title_short | BRAF V600E mutation associated with papillary high-grade serous ovarian cystadenocarcinoma in a 22q11.2DS patient |
| title_sort | braf v600e mutation associated with papillary high grade serous ovarian cystadenocarcinoma in a 22q11 2ds patient |
| topic | DiGeorge syndrome BRAF Ovarian tumor |
| url | http://www.sciencedirect.com/science/article/pii/S2352578925001018 |
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