Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node
BackgroundOvarian cancer is among the most lethal gynecologic malignancies, with a high proportion of patients diagnosed at advanced stages, leading to poor survival outcomes. Axillary lymph node metastasis from ovarian cancer is extremely rare and the mechanism is still unclear.MethodsA comprehensi...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1548102/full |
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| author | Yu Xia Yu Huang Zheng Liu Siyuan Song Yi Wang Yi Wang Jing Luo |
| author_facet | Yu Xia Yu Huang Zheng Liu Siyuan Song Yi Wang Yi Wang Jing Luo |
| author_sort | Yu Xia |
| collection | DOAJ |
| description | BackgroundOvarian cancer is among the most lethal gynecologic malignancies, with a high proportion of patients diagnosed at advanced stages, leading to poor survival outcomes. Axillary lymph node metastasis from ovarian cancer is extremely rare and the mechanism is still unclear.MethodsA comprehensive set of clinical and gynecologic oncology assessments were performed, including ultrasound, mammography, MRI, transvaginal ultrasound, and tissue staining. To unravel the carcinogenesis, the next-generation sequencing (NGS) was performed.ResultsConventional examinations and imaging suggested the presence of both occult breast cancer and ovarian cancer. However, immunohistochemical staining confirmed the diagnosis of high-grade serous ovarian carcinoma. Further analysis of NGS identified two novel missense mutations, D326E in BTK (Bruton’s tyrosine kinase) at SH2 domain and D251E in EPHA5 (EPH receptor A5), along with other known cancer- associated mutations. These mutations, particularly the novel missense mutations, may lead to metastasis to the axillary lymph nodes and drug resistance. Therefore, based on these findings, the chemotherapy regimen was adjusted accordingly.ConclusionThis is the first report on the panorama gene profile of ovarian cancer metastasis to axillary lymph node and we found two novel mutations (BTK pD326E and EPHA5 pD251E). This study unraveled the potential mechanism of genetic mutation for tumor metabolism, drug resistance, and metastasis. |
| format | Article |
| id | doaj-art-befbe094b3554e0e82d90df986285040 |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-befbe094b3554e0e82d90df9862850402025-01-24T07:13:53ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-01-011610.3389/fimmu.2025.15481021548102Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph nodeYu Xia0Yu Huang1Zheng Liu2Siyuan Song3Yi Wang4Yi Wang5Jing Luo6School of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaDepartment of Obstetrics and Gynecology, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, ChinaDepartment of Pathology, The University of Texas MD Anderson Cancer Center, Pathology, Houston, TX, United StatesDepartment of Neuroscience, Baylor College of Medicine, Houston, TX, United StatesDepartment of Critical Care Medicine, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, ChinaClinical Immunology Key Laboratory of Sichuan Province, Sichuan Provincial People’s Hospital, Chengdu, ChinaDepartment of Breast Surgery, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, ChinaBackgroundOvarian cancer is among the most lethal gynecologic malignancies, with a high proportion of patients diagnosed at advanced stages, leading to poor survival outcomes. Axillary lymph node metastasis from ovarian cancer is extremely rare and the mechanism is still unclear.MethodsA comprehensive set of clinical and gynecologic oncology assessments were performed, including ultrasound, mammography, MRI, transvaginal ultrasound, and tissue staining. To unravel the carcinogenesis, the next-generation sequencing (NGS) was performed.ResultsConventional examinations and imaging suggested the presence of both occult breast cancer and ovarian cancer. However, immunohistochemical staining confirmed the diagnosis of high-grade serous ovarian carcinoma. Further analysis of NGS identified two novel missense mutations, D326E in BTK (Bruton’s tyrosine kinase) at SH2 domain and D251E in EPHA5 (EPH receptor A5), along with other known cancer- associated mutations. These mutations, particularly the novel missense mutations, may lead to metastasis to the axillary lymph nodes and drug resistance. Therefore, based on these findings, the chemotherapy regimen was adjusted accordingly.ConclusionThis is the first report on the panorama gene profile of ovarian cancer metastasis to axillary lymph node and we found two novel mutations (BTK pD326E and EPHA5 pD251E). This study unraveled the potential mechanism of genetic mutation for tumor metabolism, drug resistance, and metastasis.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1548102/fullovarian canceraxillary lymph nodemetastasisBTK mutationEPHA5 mutationmetabolism related mutations |
| spellingShingle | Yu Xia Yu Huang Zheng Liu Siyuan Song Yi Wang Yi Wang Jing Luo Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node Frontiers in Immunology ovarian cancer axillary lymph node metastasis BTK mutation EPHA5 mutation metabolism related mutations |
| title | Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node |
| title_full | Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node |
| title_fullStr | Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node |
| title_full_unstemmed | Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node |
| title_short | Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node |
| title_sort | case report a panorama gene profile of ovarian cancer metastasized to axillary lymph node |
| topic | ovarian cancer axillary lymph node metastasis BTK mutation EPHA5 mutation metabolism related mutations |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1548102/full |
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