YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma
Sclerosing epithelioid fibrosarcoma (SEF) and low-grade fibromyxoid sarcoma (LGFMS) constitute a morphological continuum with certain overlapping histopathological features and MUC 4 immunopositivity. SEF is characterized by EWSR1 gene rearrangement, is relatively more aggressive and shows a limited...
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Wolters Kluwer Medknow Publications
2024-12-01
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| Series: | Indian Journal of Pathology and Microbiology |
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| Online Access: | https://journals.lww.com/10.4103/ijpm.ijpm_275_24 |
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| author | Ayush Agarwal Bharat Rekhi Vineeta Goel Jyoti Bajpai Sameer Rastogi |
| author_facet | Ayush Agarwal Bharat Rekhi Vineeta Goel Jyoti Bajpai Sameer Rastogi |
| author_sort | Ayush Agarwal |
| collection | DOAJ |
| description | Sclerosing epithelioid fibrosarcoma (SEF) and low-grade fibromyxoid sarcoma (LGFMS) constitute a morphological continuum with certain overlapping histopathological features and MUC 4 immunopositivity. SEF is characterized by EWSR1 gene rearrangement, is relatively more aggressive and shows a limited response to chemotherapy. Lately, a subset of tumors with morphological features of SEF, but lacking MUC4 immunostaining and EWSR1 gene rearrangement have been observed. We report the first case of YAP1::KMT2A-positive sarcoma from the Indian subcontinent along with a review of similar tumors reported previously. A case of 31-year-old male presented with a 3 cm painful lump in the right suboccipital region. Histopathological examination of the excised specimen revealed a cellular tumor composed of atypical spindle and epithelioid cells, exhibiting moderate nuclear pleomorphism, arranged in cords, embedded in a dense collagenous/hyalinized stroma. By immunohistochemistry, the tumor cells were diffusely positive for cyclin D1 and negative for MUC4, desmin, myogenin, β-catenin, STAT6, myoD1, SMA, and S100P. By fluorescence in-situ hybridization, EWSR1 gene rearrangement was negative. Next-generation sequencing (NGS) revealed YAP1exon5::KMT2Aexon4 fusion. Given a positive resection margin, he underwent a revision surgery involving wide local excision of the lesion including the outer table of the occipital bone followed by image-guided radiation therapy. Over 2 years of his follow-up, the patient is alive with no evidence of recurrence. Thus, YAP1::KMT2A positive sarcomas have distinct molecular and overlapping histopathological features with SEF, with relatively less aggressive disease course. Documentation of additional similar tumors with long-term follow-up is required. |
| format | Article |
| id | doaj-art-b61961a33ce44c5db539a375f55164d2 |
| institution | Kabale University |
| issn | 0377-4929 0974-5130 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj-art-b61961a33ce44c5db539a375f55164d22025-01-10T10:25:28ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49290974-51302024-12-0167485986410.4103/ijpm.ijpm_275_24YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcomaAyush AgarwalBharat RekhiVineeta GoelJyoti BajpaiSameer RastogiSclerosing epithelioid fibrosarcoma (SEF) and low-grade fibromyxoid sarcoma (LGFMS) constitute a morphological continuum with certain overlapping histopathological features and MUC 4 immunopositivity. SEF is characterized by EWSR1 gene rearrangement, is relatively more aggressive and shows a limited response to chemotherapy. Lately, a subset of tumors with morphological features of SEF, but lacking MUC4 immunostaining and EWSR1 gene rearrangement have been observed. We report the first case of YAP1::KMT2A-positive sarcoma from the Indian subcontinent along with a review of similar tumors reported previously. A case of 31-year-old male presented with a 3 cm painful lump in the right suboccipital region. Histopathological examination of the excised specimen revealed a cellular tumor composed of atypical spindle and epithelioid cells, exhibiting moderate nuclear pleomorphism, arranged in cords, embedded in a dense collagenous/hyalinized stroma. By immunohistochemistry, the tumor cells were diffusely positive for cyclin D1 and negative for MUC4, desmin, myogenin, β-catenin, STAT6, myoD1, SMA, and S100P. By fluorescence in-situ hybridization, EWSR1 gene rearrangement was negative. Next-generation sequencing (NGS) revealed YAP1exon5::KMT2Aexon4 fusion. Given a positive resection margin, he underwent a revision surgery involving wide local excision of the lesion including the outer table of the occipital bone followed by image-guided radiation therapy. Over 2 years of his follow-up, the patient is alive with no evidence of recurrence. Thus, YAP1::KMT2A positive sarcomas have distinct molecular and overlapping histopathological features with SEF, with relatively less aggressive disease course. Documentation of additional similar tumors with long-term follow-up is required.https://journals.lww.com/10.4103/ijpm.ijpm_275_24kmt2alow-grade fibromyxoid sarcomamuc4sclerosing epithelioid fibrosarcomayap1 |
| spellingShingle | Ayush Agarwal Bharat Rekhi Vineeta Goel Jyoti Bajpai Sameer Rastogi YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma Indian Journal of Pathology and Microbiology kmt2a low-grade fibromyxoid sarcoma muc4 sclerosing epithelioid fibrosarcoma yap1 |
| title | YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma |
| title_full | YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma |
| title_fullStr | YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma |
| title_full_unstemmed | YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma |
| title_short | YAP1::KMT2A fusion-positive sarcoma: An emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma |
| title_sort | yap1 kmt2a fusion positive sarcoma an emerging soft tissue tumor entity with morphological features resembling a sclerosing epithelioid fibrosarcoma |
| topic | kmt2a low-grade fibromyxoid sarcoma muc4 sclerosing epithelioid fibrosarcoma yap1 |
| url | https://journals.lww.com/10.4103/ijpm.ijpm_275_24 |
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