Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas
Background: Synchronous endometrial and ovarian carcinomas represent up to 10% of all endometrial and ovarian tumors. These are diagnostically challenging cases to determine if they represent dual primary tumors or related metastatic tumors. Case: A 48-year-old was diagnosed with synchronous primary...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-12-01
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| Series: | Gynecologic Oncology Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352578924002030 |
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| author | Michelle Greenman Stefania Bellone Tobias Hartwich Natalia Buza Alessandro D. Santin |
| author_facet | Michelle Greenman Stefania Bellone Tobias Hartwich Natalia Buza Alessandro D. Santin |
| author_sort | Michelle Greenman |
| collection | DOAJ |
| description | Background: Synchronous endometrial and ovarian carcinomas represent up to 10% of all endometrial and ovarian tumors. These are diagnostically challenging cases to determine if they represent dual primary tumors or related metastatic tumors. Case: A 48-year-old was diagnosed with synchronous primary ovarian and endometrial malignancies on pathology based on traditional morphological parameters. However, following next generation sequencing (NGS) of tumors from both the uterus and ovary, the malignancies were unequivocally recognized as primary uterine tumor metastatic to the ovary using mismatch repair protein expression profile and tumor clonality. Conclusion: NGS using FDA-approved commercially available platforms is becoming increasingly utilized to understand the genetic landscape of tumors and select the appropriate targeted therapies for improved outcomes. Simultaneous sequencing of synchronous endometrial and ovarian carcinomas may represent the new gold standard to unequivocally demonstrate tumor clonal relationships, properly classify disease as well as guide the most appropriate adjuvant treatment in these challenging cases. |
| format | Article |
| id | doaj-art-2ddaaff38f66436889db9cfdb27b4f0b |
| institution | OA Journals |
| issn | 2352-5789 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Gynecologic Oncology Reports |
| spelling | doaj-art-2ddaaff38f66436889db9cfdb27b4f0b2025-08-20T02:37:42ZengElsevierGynecologic Oncology Reports2352-57892024-12-015610152410.1016/j.gore.2024.101524Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomasMichelle Greenman0Stefania Bellone1Tobias Hartwich2Natalia Buza3Alessandro D. Santin4Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University, School of Medicine, New Haven, CT, USADepartment of Obstetrics, Gynecology, and Reproductive Sciences, Yale University, School of Medicine, New Haven, CT, USADepartment of Obstetrics, Gynecology, and Reproductive Sciences, Yale University, School of Medicine, New Haven, CT, USADepartment of Pathology, Yale University, School of Medicine, New Haven, CT, USADepartment of Obstetrics, Gynecology, and Reproductive Sciences, Yale University, School of Medicine, New Haven, CT, USA; Corresponding author at: 333 Cedar Street, LSOG 305, PO Box 208063, New Haven, CT 06520, USA.Background: Synchronous endometrial and ovarian carcinomas represent up to 10% of all endometrial and ovarian tumors. These are diagnostically challenging cases to determine if they represent dual primary tumors or related metastatic tumors. Case: A 48-year-old was diagnosed with synchronous primary ovarian and endometrial malignancies on pathology based on traditional morphological parameters. However, following next generation sequencing (NGS) of tumors from both the uterus and ovary, the malignancies were unequivocally recognized as primary uterine tumor metastatic to the ovary using mismatch repair protein expression profile and tumor clonality. Conclusion: NGS using FDA-approved commercially available platforms is becoming increasingly utilized to understand the genetic landscape of tumors and select the appropriate targeted therapies for improved outcomes. Simultaneous sequencing of synchronous endometrial and ovarian carcinomas may represent the new gold standard to unequivocally demonstrate tumor clonal relationships, properly classify disease as well as guide the most appropriate adjuvant treatment in these challenging cases.http://www.sciencedirect.com/science/article/pii/S2352578924002030Synchronous tumorsNext generation sequencingImmunohistochemistryGenetic landscapeClonality |
| spellingShingle | Michelle Greenman Stefania Bellone Tobias Hartwich Natalia Buza Alessandro D. Santin Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas Gynecologic Oncology Reports Synchronous tumors Next generation sequencing Immunohistochemistry Genetic landscape Clonality |
| title | Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas |
| title_full | Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas |
| title_fullStr | Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas |
| title_full_unstemmed | Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas |
| title_short | Utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas |
| title_sort | utility of next generation sequencing to unequivocally establish clonality in synchronous vs metastatic endometrial and ovarian carcinomas |
| topic | Synchronous tumors Next generation sequencing Immunohistochemistry Genetic landscape Clonality |
| url | http://www.sciencedirect.com/science/article/pii/S2352578924002030 |
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