Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report
Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor composed of bland spindled cells in a variably fibrous to myxoid stroma. Its occurrence in the vulva region is rare, and thus, it may not be always taken into account in the differential diagnosis. Here, we describe a 34-year-old woma...
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2023.1343407/full |
| _version_ | 1797354418668044288 |
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| author | Shuang Tan Hongruo Liu Evenki Pan Siye Liu Jiangyan Zhang Jie Wang Ning Wang |
| author_facet | Shuang Tan Hongruo Liu Evenki Pan Siye Liu Jiangyan Zhang Jie Wang Ning Wang |
| author_sort | Shuang Tan |
| collection | DOAJ |
| description | Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor composed of bland spindled cells in a variably fibrous to myxoid stroma. Its occurrence in the vulva region is rare, and thus, it may not be always taken into account in the differential diagnosis. Here, we describe a 34-year-old woman presented with a right vulvar mass and underwent complete surgical excision. The final pathologic diagnosis revealed LGFMS of the vulva based on the morphological, immunophenotypic, and molecular genetic features. The patient has not experienced a local or metastatic recurrence after 9-month follow-up. Despite being rare, LGFMS of the vulva should be considered when making a diagnosis of vulvar lesions. We also report that the genetic testing by next-generation sequencing (NGS) represents a very useful tool for the differential diagnosis of LGFMS from its mimics. Moreover, we have reviewed the literature on LGFMS of the vulva and summarized the characteristics of the patients, providing assistance for the diagnosis of such patients. Most vulvovaginal LGFMS can be fully removed through surgery. However, ongoing monitoring over the long term is essential as local and/or distant spread can occur decades after the initial diagnosis. |
| first_indexed | 2024-03-08T13:50:10Z |
| format | Article |
| id | doaj.art-4739fd47d84d4344b85cda19fd226824 |
| institution | Directory Open Access Journal |
| issn | 2296-858X |
| language | English |
| last_indexed | 2024-03-08T13:50:10Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj.art-4739fd47d84d4344b85cda19fd2268242024-01-16T04:20:52ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2024-01-011010.3389/fmed.2023.13434071343407Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case reportShuang Tan0Hongruo Liu1Evenki Pan2Siye Liu3Jiangyan Zhang4Jie Wang5Ning Wang6Department of Gynecology, The Second Affiliated Hospital of Dalian Medical University, Dalian, ChinaDepartment of Medical Oncology, The Second Affiliated Hospital of Dalian Medical University, Dalian, ChinaDepartment of Medical, Nanjing Geneseeq Technology Inc., Nanjing, Jiangsu, ChinaDepartment of Medical, Nanjing Geneseeq Technology Inc., Nanjing, Jiangsu, ChinaDepartment of Medical, Nanjing Geneseeq Technology Inc., Nanjing, Jiangsu, ChinaDepartment of Pathology, The Second Affiliated Hospital of Dalian Medical University, Dalian, ChinaDepartment of Gynecology, The Second Affiliated Hospital of Dalian Medical University, Dalian, ChinaLow-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue tumor composed of bland spindled cells in a variably fibrous to myxoid stroma. Its occurrence in the vulva region is rare, and thus, it may not be always taken into account in the differential diagnosis. Here, we describe a 34-year-old woman presented with a right vulvar mass and underwent complete surgical excision. The final pathologic diagnosis revealed LGFMS of the vulva based on the morphological, immunophenotypic, and molecular genetic features. The patient has not experienced a local or metastatic recurrence after 9-month follow-up. Despite being rare, LGFMS of the vulva should be considered when making a diagnosis of vulvar lesions. We also report that the genetic testing by next-generation sequencing (NGS) represents a very useful tool for the differential diagnosis of LGFMS from its mimics. Moreover, we have reviewed the literature on LGFMS of the vulva and summarized the characteristics of the patients, providing assistance for the diagnosis of such patients. Most vulvovaginal LGFMS can be fully removed through surgery. However, ongoing monitoring over the long term is essential as local and/or distant spread can occur decades after the initial diagnosis.https://www.frontiersin.org/articles/10.3389/fmed.2023.1343407/fulllow-grade fibromyxoid sarcomavulvaMUC4 proteinFUS-CREB3L2 fusionnext-generation sequencing |
| spellingShingle | Shuang Tan Hongruo Liu Evenki Pan Siye Liu Jiangyan Zhang Jie Wang Ning Wang Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report Frontiers in Medicine low-grade fibromyxoid sarcoma vulva MUC4 protein FUS-CREB3L2 fusion next-generation sequencing |
| title | Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report |
| title_full | Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report |
| title_fullStr | Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report |
| title_full_unstemmed | Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report |
| title_short | Comprehensive next-generation sequencing reveals low-grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis: a case report |
| title_sort | comprehensive next generation sequencing reveals low grade fibromyxoid sarcoma of the vulva missed by morphological diagnosis a case report |
| topic | low-grade fibromyxoid sarcoma vulva MUC4 protein FUS-CREB3L2 fusion next-generation sequencing |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2023.1343407/full |
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