Dermatofibrosarcoma Protuberans in a Male Infant

Peard, Leslie; Cost, Nicholas G.; Saltzman, Amanda F.

doi:10.1016/j.urology.2018.08.050

Cited by 3 publications

(1 citation statement)

References 14 publications

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“…DFSP commonly arises from the skin of the trunk and extremities, less in the head and neck. A large population‐based study revealed that only 0.5% of DFSP occurred in the genital system, given involvement in the vulva, scrotum, and penis 6–9 …”

Section: Introductionmentioning

confidence: 99%

COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation

Lu,

Chen,

Zeng

et al. 2023

Genes Chromosomes & Cancer

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COL1A1::PDGFB 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 COL1A1::PDGFB 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 COL1A1::PDGFB 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 COL1A1::PDGFB fusion uterine sarcoma with a TERT promoter mutation, which might be a novel genetic finding associated with tumorigenesis of this rare tumor.

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Section: Introductionmentioning

confidence: 99%