Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports
Abstract Background Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare type of soft tissue mesenchymal tumor. While MELTVR exhibits histological characteristics similar to soft tissue myoepithelial tumors, its immunohistochemical and genetic features differ significantly. To date, no...
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BMC
2025-04-01
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| Series: | Diagnostic Pathology |
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| Online Access: | https://doi.org/10.1186/s13000-025-01635-0 |
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| author | Xinyu Chen Qingming Jiang Jue Xiao Mingqiong Zhang Lili Shen |
| author_facet | Xinyu Chen Qingming Jiang Jue Xiao Mingqiong Zhang Lili Shen |
| author_sort | Xinyu Chen |
| collection | DOAJ |
| description | Abstract Background Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare type of soft tissue mesenchymal tumor. While MELTVR exhibits histological characteristics similar to soft tissue myoepithelial tumors, its immunohistochemical and genetic features differ significantly. To date, no comprehensive genomic analysis of this tumor has been conducted. Case presentation We present the clinicopathological features, imaging characteristics, and immunophenotypes of three patients with MELTVR, along with their genomic characterization through high-throughput sequencing. Immunohistochemical analysis revealed that these tumors were negative for SMARCB1, S-100, CD34, CD31, SMA, Desmin, and Keratin. The Ki-67 proliferation index for tumor cells ranged from 10 to 35%. Genomic analyses showed copy number deletions in the SMARCB1 gene in all three patients. The tumor mutational burden was relatively low, ranging from 1.35 to 4.33. Additionally, two tumors exhibited fusion mutations involving PPP6R3::FHDC1 and MYH9::MYH6, while no fusions involving EWSR1, NR4A3, or FUS were detected. Conclusions This study reports the first comprehensive genomic analysis of three patients with MELTVR, potentially identifying therapeutic targets for this rare tumor. |
| format | Article |
| id | doaj-art-b5ff3f515516435f8c9cf12a8ea6cdf5 |
| institution | DOAJ |
| issn | 1746-1596 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj-art-b5ff3f515516435f8c9cf12a8ea6cdf52025-08-20T03:04:58ZengBMCDiagnostic Pathology1746-15962025-04-0120111010.1186/s13000-025-01635-0Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reportsXinyu Chen0Qingming Jiang1Jue Xiao2Mingqiong Zhang3Lili Shen4Department of Pathology, Chongqing University Cancer HospitalDepartment of Pathology, Chongqing University Cancer HospitalDepartment of Pathology, Chongqing University Cancer HospitalDepartment of Ultrasound, Chongqing University Cancer HospitalDepartment of Pathology, Chongqing University Cancer HospitalAbstract Background Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare type of soft tissue mesenchymal tumor. While MELTVR exhibits histological characteristics similar to soft tissue myoepithelial tumors, its immunohistochemical and genetic features differ significantly. To date, no comprehensive genomic analysis of this tumor has been conducted. Case presentation We present the clinicopathological features, imaging characteristics, and immunophenotypes of three patients with MELTVR, along with their genomic characterization through high-throughput sequencing. Immunohistochemical analysis revealed that these tumors were negative for SMARCB1, S-100, CD34, CD31, SMA, Desmin, and Keratin. The Ki-67 proliferation index for tumor cells ranged from 10 to 35%. Genomic analyses showed copy number deletions in the SMARCB1 gene in all three patients. The tumor mutational burden was relatively low, ranging from 1.35 to 4.33. Additionally, two tumors exhibited fusion mutations involving PPP6R3::FHDC1 and MYH9::MYH6, while no fusions involving EWSR1, NR4A3, or FUS were detected. Conclusions This study reports the first comprehensive genomic analysis of three patients with MELTVR, potentially identifying therapeutic targets for this rare tumor.https://doi.org/10.1186/s13000-025-01635-0Myoepithelioma-like tumor of the vulvar region (MELTVR)SMARCB1Genomic characteristicsPPP6R3:FHDC1MYH9:MYH6 |
| spellingShingle | Xinyu Chen Qingming Jiang Jue Xiao Mingqiong Zhang Lili Shen Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports Diagnostic Pathology Myoepithelioma-like tumor of the vulvar region (MELTVR) SMARCB1 Genomic characteristics PPP6R3:FHDC1 MYH9:MYH6 |
| title | Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports |
| title_full | Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports |
| title_fullStr | Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports |
| title_full_unstemmed | Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports |
| title_short | Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports |
| title_sort | pathologic and genomic characteristics of myoepithelioma like tumor of the vulvar region three case reports |
| topic | Myoepithelioma-like tumor of the vulvar region (MELTVR) SMARCB1 Genomic characteristics PPP6R3:FHDC1 MYH9:MYH6 |
| url | https://doi.org/10.1186/s13000-025-01635-0 |
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