Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report
Abstract Background Endometrial carcinomas are the most common female genital malignancies. They are very rare in pregnancy and worldwide less than 60 cases associated with pregnancy are published. No clear cell carcinoma has been described in a pregnancy with a live birth. Case presentation We pres...
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| Format: | Article |
| Language: | English |
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BMC
2023-07-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-023-03994-y |
| _version_ | 1797784600463802368 |
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| author | Fabian Weiss Till Kaltofen Veronika Kanitz Lennard Schröder Bernd Kost Alexander König Maria Delius Sven Mahner Irene Alba Alejandre |
| author_facet | Fabian Weiss Till Kaltofen Veronika Kanitz Lennard Schröder Bernd Kost Alexander König Maria Delius Sven Mahner Irene Alba Alejandre |
| author_sort | Fabian Weiss |
| collection | DOAJ |
| description | Abstract Background Endometrial carcinomas are the most common female genital malignancies. They are very rare in pregnancy and worldwide less than 60 cases associated with pregnancy are published. No clear cell carcinoma has been described in a pregnancy with a live birth. Case presentation We present the course of a 43-year-old Uyghur female patient with the diagnosis of endometrial carcinoma with a deficiency in the DNA mismatch repair system in the pregnancy. The malignancy with clear cell histology was confirmed by biopsy following the delivery via caesarean section due to preterm birth of a fetus with sonographically suspected tetralogy of Fallot. Earlier whole exome sequencing after amniocentesis had shown a heterozygous mutation in the MSH2 gene, which was unlikely to be related to the fetal cardiac defect. The uterine mass was initially deemed an isthmocervical fibroid by ultrasound and was confirmed as stage II endometrial carcinoma. The patient was consequently treated with surgery, radiotherapy and chemotherapy. Six months after the adjuvant therapy, re-laparotomy was performed due to ileus symptoms and an ileum metastasis was found. The patient is currently undergoing immune checkpoint inhibitor therapy with pembrolizumab. Conclusion Rare endometrial carcinoma should be included in the differential diagnosis of uterine masses in pregnant women with risk factors. |
| first_indexed | 2024-03-13T00:42:13Z |
| format | Article |
| id | doaj.art-023dfae12dc940cd8bfc878cb09e376e |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-03-13T00:42:13Z |
| publishDate | 2023-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-023dfae12dc940cd8bfc878cb09e376e2023-07-09T11:14:53ZengBMCJournal of Medical Case Reports1752-19472023-07-011711610.1186/s13256-023-03994-yClear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case reportFabian Weiss0Till Kaltofen1Veronika Kanitz2Lennard Schröder3Bernd Kost4Alexander König5Maria Delius6Sven Mahner7Irene Alba Alejandre8Department of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityDepartment of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityInstitute of Pathology, Faculty of Medicine, Ludwig-Maximilians-UniversityDepartment of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityDepartment of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityDepartment of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityDepartment of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityDepartment of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityDepartment of Obstetrics and Gynecology, University Hospital, Ludwig-Maximilians-UniversityAbstract Background Endometrial carcinomas are the most common female genital malignancies. They are very rare in pregnancy and worldwide less than 60 cases associated with pregnancy are published. No clear cell carcinoma has been described in a pregnancy with a live birth. Case presentation We present the course of a 43-year-old Uyghur female patient with the diagnosis of endometrial carcinoma with a deficiency in the DNA mismatch repair system in the pregnancy. The malignancy with clear cell histology was confirmed by biopsy following the delivery via caesarean section due to preterm birth of a fetus with sonographically suspected tetralogy of Fallot. Earlier whole exome sequencing after amniocentesis had shown a heterozygous mutation in the MSH2 gene, which was unlikely to be related to the fetal cardiac defect. The uterine mass was initially deemed an isthmocervical fibroid by ultrasound and was confirmed as stage II endometrial carcinoma. The patient was consequently treated with surgery, radiotherapy and chemotherapy. Six months after the adjuvant therapy, re-laparotomy was performed due to ileus symptoms and an ileum metastasis was found. The patient is currently undergoing immune checkpoint inhibitor therapy with pembrolizumab. Conclusion Rare endometrial carcinoma should be included in the differential diagnosis of uterine masses in pregnant women with risk factors.https://doi.org/10.1186/s13256-023-03994-yEndometrial neoplasmsPregnancyDNA mismatch repairClear cell adenocarcinomaAmniocentesisCase report |
| spellingShingle | Fabian Weiss Till Kaltofen Veronika Kanitz Lennard Schröder Bernd Kost Alexander König Maria Delius Sven Mahner Irene Alba Alejandre Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report Journal of Medical Case Reports Endometrial neoplasms Pregnancy DNA mismatch repair Clear cell adenocarcinoma Amniocentesis Case report |
| title | Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
| title_full | Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
| title_fullStr | Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
| title_full_unstemmed | Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
| title_short | Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
| title_sort | clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy a case report |
| topic | Endometrial neoplasms Pregnancy DNA mismatch repair Clear cell adenocarcinoma Amniocentesis Case report |
| url | https://doi.org/10.1186/s13256-023-03994-y |
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