DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report
DICER1 syndrome is a rare genetic disorder predisposing young patients to multiple types of cancer. A 17-year-old woman with a history of mixed Sertoli-Leydig cell tumor and juvenile granulosa cell tumor of the left ovary at age 14 presented with a pelvic mass. She underwent fertility preservation c...
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| Format: | Article |
| Language: | English |
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Elsevier
2024-03-01
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| Series: | Case Reports in Women's Health |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214911224000018 |
| _version_ | 1827384129037008896 |
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| author | Nora Shero Aditi Dhir Pablo Bejarano Sara Rhode Joel Cardenas Goicocechea |
| author_facet | Nora Shero Aditi Dhir Pablo Bejarano Sara Rhode Joel Cardenas Goicocechea |
| author_sort | Nora Shero |
| collection | DOAJ |
| description | DICER1 syndrome is a rare genetic disorder predisposing young patients to multiple types of cancer. A 17-year-old woman with a history of mixed Sertoli-Leydig cell tumor and juvenile granulosa cell tumor of the left ovary at age 14 presented with a pelvic mass. She underwent fertility preservation cytoreductive surgery and the pathology showed high-grade sarcoma with rhabdomyosarcomatous differentiation. After the surgery, patient received one cycle of chemotherapy but her disease continued to progress. She therefore underwent total hysterectomy, right salpingo-oophorectomy and hyperthermic intraperitoneal chemotherapy followed by consolidation chemotherapy. Magnetic resonance imaging revealed no evidence of the disease before and after the completion of her chemotherapy. Genetic testing confirmed the DICER1 pathogenic variant. However, she presented again with a recurrence of the disease 6 months later and ultimately died of the disease 11 months after the surgery. Our case demonstrates the challenging management of this rare disease in a young patient and the need for new and effective treatments. |
| first_indexed | 2024-03-08T14:50:13Z |
| format | Article |
| id | doaj.art-7fd5ce1f7fd74bdd9be2049a20037709 |
| institution | Directory Open Access Journal |
| issn | 2214-9112 |
| language | English |
| last_indexed | 2024-03-08T14:50:13Z |
| publishDate | 2024-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Case Reports in Women's Health |
| spelling | doaj.art-7fd5ce1f7fd74bdd9be2049a200377092024-01-11T04:31:23ZengElsevierCase Reports in Women's Health2214-91122024-03-0141e00580DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case reportNora Shero0Aditi Dhir1Pablo Bejarano2Sara Rhode3Joel Cardenas Goicocechea4Medical University of the Americas, Devens, MA 01434, United States of America; Corresponding author.Department of Pediatric Hematology/Oncology, University of Miami Leonard M. Miller School of Medicine, Miami, FL 33136, United States of AmericaDepartment of Pathology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd, Weston, FL 33331, United States of AmericaDepartment of Hematology/Oncology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd, Weston, FL 33331, United States of AmericaDepartment of Gynecology Oncology, Cleveland Clinic Florida, 2950 Cleveland Clinic Blvd, Weston, FL 33331, United States of AmericaDICER1 syndrome is a rare genetic disorder predisposing young patients to multiple types of cancer. A 17-year-old woman with a history of mixed Sertoli-Leydig cell tumor and juvenile granulosa cell tumor of the left ovary at age 14 presented with a pelvic mass. She underwent fertility preservation cytoreductive surgery and the pathology showed high-grade sarcoma with rhabdomyosarcomatous differentiation. After the surgery, patient received one cycle of chemotherapy but her disease continued to progress. She therefore underwent total hysterectomy, right salpingo-oophorectomy and hyperthermic intraperitoneal chemotherapy followed by consolidation chemotherapy. Magnetic resonance imaging revealed no evidence of the disease before and after the completion of her chemotherapy. Genetic testing confirmed the DICER1 pathogenic variant. However, she presented again with a recurrence of the disease 6 months later and ultimately died of the disease 11 months after the surgery. Our case demonstrates the challenging management of this rare disease in a young patient and the need for new and effective treatments.http://www.sciencedirect.com/science/article/pii/S2214911224000018DICER1Sertoli-Leydig cell tumorJuvenile granulosa cell tumorHigh-grade sarcomaRhabdomyosarcoma |
| spellingShingle | Nora Shero Aditi Dhir Pablo Bejarano Sara Rhode Joel Cardenas Goicocechea DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report Case Reports in Women's Health DICER1 Sertoli-Leydig cell tumor Juvenile granulosa cell tumor High-grade sarcoma Rhabdomyosarcoma |
| title | DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report |
| title_full | DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report |
| title_fullStr | DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report |
| title_full_unstemmed | DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report |
| title_short | DICER1-related Sertoli-Leydig cell tumor and rhabdomyosarcoma: An evolving disease with a challenging clinical course and treatment: A case report |
| title_sort | dicer1 related sertoli leydig cell tumor and rhabdomyosarcoma an evolving disease with a challenging clinical course and treatment a case report |
| topic | DICER1 Sertoli-Leydig cell tumor Juvenile granulosa cell tumor High-grade sarcoma Rhabdomyosarcoma |
| url | http://www.sciencedirect.com/science/article/pii/S2214911224000018 |
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