Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report
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 c...
Ausführliche Beschreibung
Autor*in: |
Weiss, Fabian [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2023 |
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Schlagwörter: |
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Anmerkung: |
© The Author(s) 2023 |
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Übergeordnetes Werk: |
Enthalten in: Journal of medical case reports - London : BioMed Central, 2007, 17(2023), 1 vom: 09. Juli |
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Übergeordnetes Werk: |
volume:17 ; year:2023 ; number:1 ; day:09 ; month:07 |
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DOI / URN: |
10.1186/s13256-023-03994-y |
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Katalog-ID: |
SPR052195740 |
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245 | 1 | 0 | |a Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
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520 | |a 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. | ||
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650 | 4 | |a Pregnancy |7 (dpeaa)DE-He213 | |
650 | 4 | |a DNA mismatch repair |7 (dpeaa)DE-He213 | |
650 | 4 | |a Clear cell adenocarcinoma |7 (dpeaa)DE-He213 | |
650 | 4 | |a Amniocentesis |7 (dpeaa)DE-He213 | |
650 | 4 | |a Case report |7 (dpeaa)DE-He213 | |
700 | 1 | |a Kaltofen, Till |4 aut | |
700 | 1 | |a Kanitz, Veronika |4 aut | |
700 | 1 | |a Schröder, Lennard |4 aut | |
700 | 1 | |a Kost, Bernd |4 aut | |
700 | 1 | |a König, Alexander |4 aut | |
700 | 1 | |a Delius, Maria |4 aut | |
700 | 1 | |a Mahner, Sven |4 aut | |
700 | 1 | |a Alba Alejandre, Irene |4 aut | |
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10.1186/s13256-023-03994-y doi (DE-627)SPR052195740 (SPR)s13256-023-03994-y-e DE-627 ger DE-627 rakwb eng Weiss, Fabian verfasserin aut Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Endometrial neoplasms (dpeaa)DE-He213 Pregnancy (dpeaa)DE-He213 DNA mismatch repair (dpeaa)DE-He213 Clear cell adenocarcinoma (dpeaa)DE-He213 Amniocentesis (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Kaltofen, Till aut Kanitz, Veronika aut Schröder, Lennard aut Kost, Bernd aut König, Alexander aut Delius, Maria aut Mahner, Sven aut Alba Alejandre, Irene aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 17(2023), 1 vom: 09. Juli (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:17 year:2023 number:1 day:09 month:07 https://dx.doi.org/10.1186/s13256-023-03994-y kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2023 1 09 07 |
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10.1186/s13256-023-03994-y doi (DE-627)SPR052195740 (SPR)s13256-023-03994-y-e DE-627 ger DE-627 rakwb eng Weiss, Fabian verfasserin aut Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Endometrial neoplasms (dpeaa)DE-He213 Pregnancy (dpeaa)DE-He213 DNA mismatch repair (dpeaa)DE-He213 Clear cell adenocarcinoma (dpeaa)DE-He213 Amniocentesis (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Kaltofen, Till aut Kanitz, Veronika aut Schröder, Lennard aut Kost, Bernd aut König, Alexander aut Delius, Maria aut Mahner, Sven aut Alba Alejandre, Irene aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 17(2023), 1 vom: 09. Juli (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:17 year:2023 number:1 day:09 month:07 https://dx.doi.org/10.1186/s13256-023-03994-y kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2023 1 09 07 |
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10.1186/s13256-023-03994-y doi (DE-627)SPR052195740 (SPR)s13256-023-03994-y-e DE-627 ger DE-627 rakwb eng Weiss, Fabian verfasserin aut Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Endometrial neoplasms (dpeaa)DE-He213 Pregnancy (dpeaa)DE-He213 DNA mismatch repair (dpeaa)DE-He213 Clear cell adenocarcinoma (dpeaa)DE-He213 Amniocentesis (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Kaltofen, Till aut Kanitz, Veronika aut Schröder, Lennard aut Kost, Bernd aut König, Alexander aut Delius, Maria aut Mahner, Sven aut Alba Alejandre, Irene aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 17(2023), 1 vom: 09. Juli (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:17 year:2023 number:1 day:09 month:07 https://dx.doi.org/10.1186/s13256-023-03994-y kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2023 1 09 07 |
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10.1186/s13256-023-03994-y doi (DE-627)SPR052195740 (SPR)s13256-023-03994-y-e DE-627 ger DE-627 rakwb eng Weiss, Fabian verfasserin aut Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Endometrial neoplasms (dpeaa)DE-He213 Pregnancy (dpeaa)DE-He213 DNA mismatch repair (dpeaa)DE-He213 Clear cell adenocarcinoma (dpeaa)DE-He213 Amniocentesis (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Kaltofen, Till aut Kanitz, Veronika aut Schröder, Lennard aut Kost, Bernd aut König, Alexander aut Delius, Maria aut Mahner, Sven aut Alba Alejandre, Irene aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 17(2023), 1 vom: 09. Juli (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:17 year:2023 number:1 day:09 month:07 https://dx.doi.org/10.1186/s13256-023-03994-y kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2023 1 09 07 |
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10.1186/s13256-023-03994-y doi (DE-627)SPR052195740 (SPR)s13256-023-03994-y-e DE-627 ger DE-627 rakwb eng Weiss, Fabian verfasserin aut Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 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. Endometrial neoplasms (dpeaa)DE-He213 Pregnancy (dpeaa)DE-He213 DNA mismatch repair (dpeaa)DE-He213 Clear cell adenocarcinoma (dpeaa)DE-He213 Amniocentesis (dpeaa)DE-He213 Case report (dpeaa)DE-He213 Kaltofen, Till aut Kanitz, Veronika aut Schröder, Lennard aut Kost, Bernd aut König, Alexander aut Delius, Maria aut Mahner, Sven aut Alba Alejandre, Irene aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 17(2023), 1 vom: 09. Juli (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:17 year:2023 number:1 day:09 month:07 https://dx.doi.org/10.1186/s13256-023-03994-y kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 17 2023 1 09 07 |
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Weiss, Fabian misc Endometrial neoplasms misc Pregnancy misc DNA mismatch repair misc Clear cell adenocarcinoma misc Amniocentesis misc Case report Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
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Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report Endometrial neoplasms (dpeaa)DE-He213 Pregnancy (dpeaa)DE-He213 DNA mismatch repair (dpeaa)DE-He213 Clear cell adenocarcinoma (dpeaa)DE-He213 Amniocentesis (dpeaa)DE-He213 Case report (dpeaa)DE-He213 |
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Weiss, Fabian Kaltofen, Till Kanitz, Veronika Schröder, Lennard Kost, Bernd König, Alexander Delius, Maria Mahner, Sven Alba Alejandre, Irene |
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clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
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Clear cell endometrial carcinoma with high microsatellite instability in a complicated pregnancy: a case report |
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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. © The Author(s) 2023 |
abstractGer |
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. © The Author(s) 2023 |
abstract_unstemmed |
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. © The Author(s) 2023 |
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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. 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