A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature review
Objective: We report a low-grade endometrial stromal sarcoma (ESS) with a novel CDKN1A-JAZF1 fusion gene arising from abdominal wall endometrioma. Case report: A 40-year-old woman presented with a 5.5-cm abdominal wall mass juxtaposed to the postoperative scar of two cesarean sections. Histologicall...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-11-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922002960 |
| _version_ | 1811317128798666752 |
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| author | Tian-Hong Zhu Fu-Bin Zhang Hui Yan Wen-Ying Yu Mei Chen Yu-Tao Guan |
| author_facet | Tian-Hong Zhu Fu-Bin Zhang Hui Yan Wen-Ying Yu Mei Chen Yu-Tao Guan |
| author_sort | Tian-Hong Zhu |
| collection | DOAJ |
| description | Objective: We report a low-grade endometrial stromal sarcoma (ESS) with a novel CDKN1A-JAZF1 fusion gene arising from abdominal wall endometrioma. Case report: A 40-year-old woman presented with a 5.5-cm abdominal wall mass juxtaposed to the postoperative scar of two cesarean sections. Histologically, the tumor exhibited obvious tongue-like protrusions into the surrounding tissue, showed spindle cells with multinodular growth pattern that occasionally rotate around small arteries. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor (ER), progesterone receptor (PR), negatively stained for smooth muscle actin (SMA), CD117, CyclinD1. In addition, a previously undescribed gene fusion between CDNK1A 5′ end of exon 1(NM_000389.5) and JAZF1 3′ end of exon 5 (NM_175,061,3) was reported in this case. Conclusion: This report of ESS suggesting that rapidly growing abdominal wall masses without menstruation-related should be promptly evaluated and treated aggressively. In addition, we have expanded the molecular landscape of low-grade ESS. |
| first_indexed | 2024-04-13T12:01:41Z |
| format | Article |
| id | doaj.art-62c35ec439404c8ebe91a51b21a010ac |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-13T12:01:41Z |
| publishDate | 2022-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-62c35ec439404c8ebe91a51b21a010ac2022-12-22T02:47:45ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-11-0161610821085A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature reviewTian-Hong Zhu0Fu-Bin Zhang1Hui Yan2Wen-Ying Yu3Mei Chen4Yu-Tao Guan5Department of Obstetrics and Gynecology, Ningbo First Hospital, Ningbo, Zhejiang, ChinaDepartment of Obstetrics and Gynecology, Ningbo First Hospital, Ningbo, Zhejiang, ChinaDepartment of Obstetrics and Gynecology, Ningbo First Hospital, Ningbo, Zhejiang, ChinaNingbo Diagnostic Pathology Center, Ningbo, Zhejiang, ChinaDepartment of Ultrasonography, Ningbo First Hospital, Ningbo, Zhejiang, ChinaDepartment of Obstetrics and Gynecology, Ningbo First Hospital, Ningbo, Zhejiang, China; Corresponding author.Objective: We report a low-grade endometrial stromal sarcoma (ESS) with a novel CDKN1A-JAZF1 fusion gene arising from abdominal wall endometrioma. Case report: A 40-year-old woman presented with a 5.5-cm abdominal wall mass juxtaposed to the postoperative scar of two cesarean sections. Histologically, the tumor exhibited obvious tongue-like protrusions into the surrounding tissue, showed spindle cells with multinodular growth pattern that occasionally rotate around small arteries. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor (ER), progesterone receptor (PR), negatively stained for smooth muscle actin (SMA), CD117, CyclinD1. In addition, a previously undescribed gene fusion between CDNK1A 5′ end of exon 1(NM_000389.5) and JAZF1 3′ end of exon 5 (NM_175,061,3) was reported in this case. Conclusion: This report of ESS suggesting that rapidly growing abdominal wall masses without menstruation-related should be promptly evaluated and treated aggressively. In addition, we have expanded the molecular landscape of low-grade ESS.http://www.sciencedirect.com/science/article/pii/S1028455922002960Endometrial stromal sarcomaEndometriosisGene fusionCD10CDKN1A/JAZF1 |
| spellingShingle | Tian-Hong Zhu Fu-Bin Zhang Hui Yan Wen-Ying Yu Mei Chen Yu-Tao Guan A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature review Taiwanese Journal of Obstetrics & Gynecology Endometrial stromal sarcoma Endometriosis Gene fusion CD10 CDKN1A/JAZF1 |
| title | A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature review |
| title_full | A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature review |
| title_fullStr | A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature review |
| title_full_unstemmed | A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature review |
| title_short | A novel CDKN1A-JAZF1 gene fusion in low-grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar: A case report and literature review |
| title_sort | novel cdkn1a jazf1 gene fusion in low grade endometrial stromal sarcoma arising from endometriosis in abdominal wall cesarean section scar a case report and literature review |
| topic | Endometrial stromal sarcoma Endometriosis Gene fusion CD10 CDKN1A/JAZF1 |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922002960 |
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