Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?
Abstract Background Inguinal metastasis of endometrial cancer (EC) is rare. The aims of the study were to identify whether the inguinal metastatic tumor was originated from EC and to present the management of the disease. Methods The clinical data of a case of endometrioid EC “recurring” as serous a...
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| Format: | Article |
| Language: | English |
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BMC
2019-05-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13053-019-0112-x |
| _version_ | 1828888921477480448 |
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| author | Wei Jiang Tong Gao Xiang Tao Menghan Zhu Liangqing Yao Weiwei Feng |
| author_facet | Wei Jiang Tong Gao Xiang Tao Menghan Zhu Liangqing Yao Weiwei Feng |
| author_sort | Wei Jiang |
| collection | DOAJ |
| description | Abstract Background Inguinal metastasis of endometrial cancer (EC) is rare. The aims of the study were to identify whether the inguinal metastatic tumor was originated from EC and to present the management of the disease. Methods The clinical data of a case of endometrioid EC “recurring” as serous adenocarcinoma in the inguinal lymph nodes were collected and analyzed. Paired samples of primary and metastatic tumors were used for exome sequencing to determine whether the tumors are same origination and to identify potential gene mutations associated with the relapse. Results The patient presented with right inguinal lymphadenopathy and histopathology revealed metastatic serous adenocarcinoma. A germline MLH1 mutation was identified. A combination of bioinformatical methods and cancer-related gene exome sequencing assay identified that only 17 (0.1%) somatic gene mutations were shared by the primary EC and the metastatic inguinal tumor, suggesting that the metastasis did not originate from the primary EC. Postoperative radiation therapy followed by a combination of chemotherapy were performed. Thirty-four months after that, the patient was doing well without any evidence of recurrence. Conclusions This is the first case of metastatic inguinal serous adenocarcinoma in a woman with Lynch syndrome shortly after surgical treatment of stage I endometrioid EC. |
| first_indexed | 2024-12-13T12:31:18Z |
| format | Article |
| id | doaj.art-259aea4bd12d4029a340077650c45859 |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-12-13T12:31:18Z |
| publishDate | 2019-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-259aea4bd12d4029a340077650c458592022-12-21T23:46:01ZengBMCHereditary Cancer in Clinical Practice1897-42872019-05-011711810.1186/s13053-019-0112-xEndometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence?Wei Jiang0Tong Gao1Xiang Tao2Menghan Zhu3Liangqing Yao4Weiwei Feng5Department of Gynecology, Obstetrics and Gynecology Hospital, Fudan UniversityDepartment of Gynecology, Obstetrics and Gynecology Hospital, Fudan UniversityDepartment of Pathology, Obstetrics and Gynecology Hospital, Fudan UniversityDepartment of Gynecology, Obstetrics and Gynecology Hospital, Fudan UniversityDepartment of Gynecology, Obstetrics and Gynecology Hospital, Fudan UniversityDepartment of Gynecology, Ruijin Hospital of Shanghai Jiao Tong UniversityAbstract Background Inguinal metastasis of endometrial cancer (EC) is rare. The aims of the study were to identify whether the inguinal metastatic tumor was originated from EC and to present the management of the disease. Methods The clinical data of a case of endometrioid EC “recurring” as serous adenocarcinoma in the inguinal lymph nodes were collected and analyzed. Paired samples of primary and metastatic tumors were used for exome sequencing to determine whether the tumors are same origination and to identify potential gene mutations associated with the relapse. Results The patient presented with right inguinal lymphadenopathy and histopathology revealed metastatic serous adenocarcinoma. A germline MLH1 mutation was identified. A combination of bioinformatical methods and cancer-related gene exome sequencing assay identified that only 17 (0.1%) somatic gene mutations were shared by the primary EC and the metastatic inguinal tumor, suggesting that the metastasis did not originate from the primary EC. Postoperative radiation therapy followed by a combination of chemotherapy were performed. Thirty-four months after that, the patient was doing well without any evidence of recurrence. Conclusions This is the first case of metastatic inguinal serous adenocarcinoma in a woman with Lynch syndrome shortly after surgical treatment of stage I endometrioid EC.http://link.springer.com/article/10.1186/s13053-019-0112-xEndometrial cancerLynch syndromeAdenocarcinomaRecurrenceMetastasis |
| spellingShingle | Wei Jiang Tong Gao Xiang Tao Menghan Zhu Liangqing Yao Weiwei Feng Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? Hereditary Cancer in Clinical Practice Endometrial cancer Lynch syndrome Adenocarcinoma Recurrence Metastasis |
| title | Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? |
| title_full | Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? |
| title_fullStr | Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? |
| title_full_unstemmed | Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? |
| title_short | Endometrioid endometrial cancer “recurring” as high-grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? |
| title_sort | endometrioid endometrial cancer recurring as high grade serous adenocarcinoma in the inguinal lymph nodes in a patient with germline mlh1 mutated lynch syndrome consequence or coincidence |
| topic | Endometrial cancer Lynch syndrome Adenocarcinoma Recurrence Metastasis |
| url | http://link.springer.com/article/10.1186/s13053-019-0112-x |
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