COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation.
Genes Chromosomes Cancer
; 63(1): e23210, 2024 Jan.
Article
en En
| MEDLINE
| ID: mdl-37870859
ABSTRACT
COL1A1PDGFB fusion uterine sarcoma is a rare uterine mesenchymal tumor with some clinicopathological features that overlap with those of soft tissue dermatofibrosarcoma protuberans. However, the varied clinicopathologic and genetic characteristics have not been fully revealed, which may be a potential pitfall for diagnosis. Here, we present a case of COL1A1PDGFB fusion-positive uterine sarcoma in a 49-years-old female. Histologically, the tumor from the initial marginal excision predominantly exhibited high-grade fibrosarcomatous and myxofibrosarcoma-like appearances, while a low-grade focal area displaying storiform growth was identified in the residual tumor after subsequently extended resection. Immunohistochemically, the high-grade components mainly exhibited focal positivity for CD34 and mutated-type p53 immunoreactivity, whereas the low-grade component showed diffuse positivity for CD34 and wild-type p53 staining. The COL1A1PDGFB fusion was confirmed by fluorescence in situ hybridization and next-generation sequencing. In addition, the TERT-124 C > T mutation was further identified in this lesion's fibrosarcomatous and classic storiform components. To the best of our knowledge, this is the first described case of COL1A1PDGFB fusion uterine sarcoma with a TERT promoter mutation, which might be a novel genetic finding associated with tumorigenesis of this rare tumor.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Pélvicas
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Neoplasias Cutáneas
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Neoplasias de los Tejidos Blandos
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Neoplasias Uterinas
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Dermatofibrosarcoma
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Telomerasa
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Fibrosarcoma
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Año:
2024
Tipo del documento:
Article