A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation
We report a case of a 58-year-old female with ovarian cancer. The patient presented with ascites, and the biopsies revealed a low-grade adenocarcinoma, either a serous papillary ovarian cancer with peritoneal implants or a primary peritoneal carcinoma. She received neoadjuvant chemotherapy and after...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Oncological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2019/9357924 |
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| author | Adamantia Nikolaidi Irene Konstantopoulou Nikolaos Pistalmantzian Florentia Fostira Drakoulis Yannoukakos Ilias Athanasiadis |
| author_facet | Adamantia Nikolaidi Irene Konstantopoulou Nikolaos Pistalmantzian Florentia Fostira Drakoulis Yannoukakos Ilias Athanasiadis |
| author_sort | Adamantia Nikolaidi |
| collection | DOAJ |
| description | We report a case of a 58-year-old female with ovarian cancer. The patient presented with ascites, and the biopsies revealed a low-grade adenocarcinoma, either a serous papillary ovarian cancer with peritoneal implants or a primary peritoneal carcinoma. She received neoadjuvant chemotherapy and after 5 cycles achieved partial response, and then, she underwent a total hysterectomy/bilateral salpingo-oophorectomy. The patient underwent germline gene-panel testing for the detection of mutations in cancer predisposing genes. A truncating mutation in the Fanconi anemia complementation group M (FANCM) gene was detected in heterozygosity, namely, p.Arg658Ter (c.1972C>T, rs368728266). The patient’s family history is unremarkable, with no reported cases of breast or ovarian cancer, a fact that can be attributed to the significant lower penetrance of FANCM mutations. |
| format | Article |
| id | doaj-art-5497eba545a8486ab557dbc5b6eed773 |
| institution | Kabale University |
| issn | 2090-6706 2090-6714 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Oncological Medicine |
| spelling | doaj-art-5497eba545a8486ab557dbc5b6eed7732025-02-03T00:59:19ZengWileyCase Reports in Oncological Medicine2090-67062090-67142019-01-01201910.1155/2019/93579249357924A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM MutationAdamantia Nikolaidi0Irene Konstantopoulou1Nikolaos Pistalmantzian2Florentia Fostira3Drakoulis Yannoukakos4Ilias Athanasiadis5Oncology Department MITERA Hospital, Athens, GreeceMolecular Diagnostics Lab, NCSR “Demokritos”, Athens, GreeceOncology Department MITERA Hospital, Athens, GreeceMolecular Diagnostics Lab, NCSR “Demokritos”, Athens, GreeceMolecular Diagnostics Lab, NCSR “Demokritos”, Athens, GreeceOncology Department MITERA Hospital, Athens, GreeceWe report a case of a 58-year-old female with ovarian cancer. The patient presented with ascites, and the biopsies revealed a low-grade adenocarcinoma, either a serous papillary ovarian cancer with peritoneal implants or a primary peritoneal carcinoma. She received neoadjuvant chemotherapy and after 5 cycles achieved partial response, and then, she underwent a total hysterectomy/bilateral salpingo-oophorectomy. The patient underwent germline gene-panel testing for the detection of mutations in cancer predisposing genes. A truncating mutation in the Fanconi anemia complementation group M (FANCM) gene was detected in heterozygosity, namely, p.Arg658Ter (c.1972C>T, rs368728266). The patient’s family history is unremarkable, with no reported cases of breast or ovarian cancer, a fact that can be attributed to the significant lower penetrance of FANCM mutations.http://dx.doi.org/10.1155/2019/9357924 |
| spellingShingle | Adamantia Nikolaidi Irene Konstantopoulou Nikolaos Pistalmantzian Florentia Fostira Drakoulis Yannoukakos Ilias Athanasiadis A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation Case Reports in Oncological Medicine |
| title | A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation |
| title_full | A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation |
| title_fullStr | A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation |
| title_full_unstemmed | A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation |
| title_short | A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the FANCM Mutation |
| title_sort | patient affected with serous ovarian peritoneal carcinoma carrying the fancm mutation |
| url | http://dx.doi.org/10.1155/2019/9357924 |
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