Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review
Synovial sarcoma (SS) is rarely documented in the female genital tract, especially confirmed by molecular testing for SYT::SSX translocation and TLE1 immunostaining. A 62-year-old lady presented with a progressively increasing lump and pain over her right groin, for 6-month duration. Radiologically,...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2024-04-01
|
| Series: | Indian Journal of Pathology and Microbiology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijpm.ijpm_560_23 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1825205342023188480 |
|---|---|
| author | Bharat Rekhi Sheenal Bhatia Omshree Shetty Amita Maheshwari |
| author_facet | Bharat Rekhi Sheenal Bhatia Omshree Shetty Amita Maheshwari |
| author_sort | Bharat Rekhi |
| collection | DOAJ |
| description | Synovial sarcoma (SS) is rarely documented in the female genital tract, especially confirmed by molecular testing for SYT::SSX translocation and TLE1 immunostaining. A 62-year-old lady presented with a progressively increasing lump and pain over her right groin, for 6-month duration. Radiologically, a well-defined, solid-cystic mass was seen involving the right labia with necrotic areas, sparing the underlying muscles and the overlying skin. She underwent a biopsy followed by a surgical excision. Histopathologic examination revealed a spindle cell sarcoma, including tumor cells exhibiting a prominent hemangiopericytomatous pattern. There were focal areas of epithelial differentiation (pseudoglandular) along with areas of round cell morphology and increased mitoses (poor differentiation) in the resected specimen. Immunohistochemically, the tumor cells were diffusely positive for TLE1, patchily positive for pan keratin (AE1/AE3) and EMA, the latter more in the areas of epithelial differentiation, while negative for CD34, SMA, desmin, S100P, and SOX10. INI1/SMARCB1 showed a characteristic weak to absent (mosaic) staining pattern. Furthermore, the tumor displayed SS18::SSX1 fusion by RT-PCR. This constitutes one of the few reported cases of vulvar SS, confirmed by molecular testing and the first documented vulvar SS showing a mosaic pattern of INI1/SMARCB1 immunostaining. A review of the literature and diagnostic implications are presented herewith. |
| format | Article |
| id | doaj-art-d32859198eb04dfa8c41c9b847347bc3 |
| institution | Kabale University |
| issn | 0377-4929 0974-5130 |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj-art-d32859198eb04dfa8c41c9b847347bc32025-02-07T13:58:44ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49290974-51302024-04-0167239640010.4103/ijpm.ijpm_560_23Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature reviewBharat RekhiSheenal BhatiaOmshree ShettyAmita MaheshwariSynovial sarcoma (SS) is rarely documented in the female genital tract, especially confirmed by molecular testing for SYT::SSX translocation and TLE1 immunostaining. A 62-year-old lady presented with a progressively increasing lump and pain over her right groin, for 6-month duration. Radiologically, a well-defined, solid-cystic mass was seen involving the right labia with necrotic areas, sparing the underlying muscles and the overlying skin. She underwent a biopsy followed by a surgical excision. Histopathologic examination revealed a spindle cell sarcoma, including tumor cells exhibiting a prominent hemangiopericytomatous pattern. There were focal areas of epithelial differentiation (pseudoglandular) along with areas of round cell morphology and increased mitoses (poor differentiation) in the resected specimen. Immunohistochemically, the tumor cells were diffusely positive for TLE1, patchily positive for pan keratin (AE1/AE3) and EMA, the latter more in the areas of epithelial differentiation, while negative for CD34, SMA, desmin, S100P, and SOX10. INI1/SMARCB1 showed a characteristic weak to absent (mosaic) staining pattern. Furthermore, the tumor displayed SS18::SSX1 fusion by RT-PCR. This constitutes one of the few reported cases of vulvar SS, confirmed by molecular testing and the first documented vulvar SS showing a mosaic pattern of INI1/SMARCB1 immunostaining. A review of the literature and diagnostic implications are presented herewith.https://journals.lww.com/10.4103/ijpm.ijpm_560_23mesenchymal tumors of vulvass18:ssxsynovial sarcomatle1 |
| spellingShingle | Bharat Rekhi Sheenal Bhatia Omshree Shetty Amita Maheshwari Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review Indian Journal of Pathology and Microbiology mesenchymal tumors of vulva ss18:ssx synovial sarcoma tle1 |
| title | Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review |
| title_full | Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review |
| title_fullStr | Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review |
| title_full_unstemmed | Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review |
| title_short | Poorly differentiated biphasic synovial sarcoma of the vulva, displaying SS18::SSX1 fusion and weak to absent (mosaic) INI1/SMARCB1 immunostaining: A rare case with literature review |
| title_sort | poorly differentiated biphasic synovial sarcoma of the vulva displaying ss18 ssx1 fusion and weak to absent mosaic ini1 smarcb1 immunostaining a rare case with literature review |
| topic | mesenchymal tumors of vulva ss18:ssx synovial sarcoma tle1 |
| url | https://journals.lww.com/10.4103/ijpm.ijpm_560_23 |
| work_keys_str_mv | AT bharatrekhi poorlydifferentiatedbiphasicsynovialsarcomaofthevulvadisplayingss18ssx1fusionandweaktoabsentmosaicini1smarcb1immunostainingararecasewithliteraturereview AT sheenalbhatia poorlydifferentiatedbiphasicsynovialsarcomaofthevulvadisplayingss18ssx1fusionandweaktoabsentmosaicini1smarcb1immunostainingararecasewithliteraturereview AT omshreeshetty poorlydifferentiatedbiphasicsynovialsarcomaofthevulvadisplayingss18ssx1fusionandweaktoabsentmosaicini1smarcb1immunostainingararecasewithliteraturereview AT amitamaheshwari poorlydifferentiatedbiphasicsynovialsarcomaofthevulvadisplayingss18ssx1fusionandweaktoabsentmosaicini1smarcb1immunostainingararecasewithliteraturereview |