EWSR1-WT1 gene fusions in neoplasms other than desmoplastic small round cell tumor: a report of three unusual tumors involving the female genital tract and review of the literature

Schoolmeester, J. Kenneth; Folpe, Andrew L.; Nair, Asha; Halling, Kevin C.; Sutton, Bobbie Collett; Landers, Emily E.; Karnezis, Anthony N.; Dickson, Brendan C.; Nucci, Marisa R.; Kolin, David L.

doi:10.1038/s41379-021-00843-5

Cited by 27 publications

(11 citation statements)

References 33 publications

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“…The EWSR1/WT1 fusion transcript has transcriptional regulatory activity and is a highly specific and sensitive molecular marker detectable in up to 97% of DSRCT cases 13 . Very recently the same molecular alteration has been reported in tumors showing morphological and immunophenotypical features unrelated to DSRCT 14 . These entities have not been well characterized yet, and represent a potential diagnostic pitfall if molecular genetics is not evaluated in context with morphology.…”

Section: Desmoplastic Small Round Cell Tumorsupporting

confidence: 67%

The contribution of Juan Rosai to the pathology of soft tissue tumors

et al. 2021

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Summary The conceptual evolution in the field of soft tissue tumor pathology has been mostly driven by a relatively small group of individuals that includes giants of the past and the present such as James Ewing, Raffaele Lattes, Arthur Purdy Stout, Franz Enzinger, Sharon Weiss, Lennart Angervall, Harry Evans, Marku Miettinen, and Christopher Fletcher. Juan Rosai, not only exerted an immense impact on surgical pathology in general, but in consideration of his unique talent in identifying novel clinicopathologic entities, has also contributed remarkably to current understanding of mesenchymal neoplasms. The creation of desmoplastic small round cell tumor certainly ranks among his most relevant efforts, although he actually put his mark on a broad variety of soft tissue lesions, including vascular neoplasms. It would be impossible to include in a single article all the entities that he created or contributed to refine; therefore, this review is limited to a selection of what we believe represent true milestones.

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Section: Desmoplastic Small Round Cell Tumorsupporting

confidence: 67%

The contribution of Juan Rosai to the pathology of soft tissue tumors

et al. 2021

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“…EWSR1::WT1 is one of the most specific, limited to DSCRT in the recent 2020 WHO Classification. Nevertheless, very recently Schoolmeester et al 49 reported three unusual tumors involving the female genital tract with EWSR1::WT1 fusions where the morphologic and immunohistochemical features were incompatible with the diagnosis of DSRCT. Two tumors were low-grade spindle cell sarcomas, whereas the third tumor was a high-grade sarcoma with spindle and epithelioid features.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, six patients of non-desmoplastic small round cell tumors with EWRS1::WT1 have been described in the literature. 49,50 It seems likely that these tumors represent different entities as they appear to be a relatively heterogenous group. The tumor of Patient 1 had high mitotic activity that helps distinguish it from the so-called low-grade small round cell sarcoma with EWSR1 :: WT1 fusion.…”

Section: Discussionmentioning

confidence: 99%

Highlighting the Diversity of Desmoplastic Small Round Cell Tumor: A Case Series

et al. 2022

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Desmoplastic small round cell tumor (DSRCT) is a rare malignant tumor that occurs mainly in the retroperitoneum of children and young adults. In its prototypical form, DSCRT displays characteristic morphology with nested primitive small round cells in a desmoplastic stroma and a distinctive immunophenotype with polyphenotypic differentiation. However, DSCRT can also exhibit a broader clinical, histologic and immunohistochemical spectrum and, therefore, cause diagnostic difficulties. Given that DSCRT is an aggressive and nearly universally fatal disease, making the correct diagnosis is critically important. Herein, we report three patients with DSRCT and unusual clinical, morphologic or immunohistochemical characteristics, in order to highlight its remarkable diversity and increase awareness of this unusual, distinctive neoplasm.

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“…Recently, there was a report of three unusual tumors affecting the female genital tract with EWSR1 :: WT1 gene fusion lacking features of DSRCT [ 232 ]. These findings suggest the pleiotropy of the EWSR1 :: WT1 fusion is possible and not restricted to DSRCT.…”

Section: Tumors Of Uncertain Differentiationmentioning

confidence: 99%

The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors

Choi

2023

IJMS

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Soft tissue tumors are rare mesenchymal tumors with divergent differentiation. The diagnosis of soft tissue tumors is challenging for pathologists owing to the diversity of tumor types and histological overlap among the tumor entities. Present-day understanding of the molecular pathogenesis of soft tissue tumors has rapidly increased with the development of molecular genetic techniques (e.g., next-generation sequencing). Additionally, immunohistochemical markers that serve as surrogate markers for recurrent translocations in soft tissue tumors have been developed. This review aims to provide an update on recently described molecular findings and relevant novel immunohistochemical markers in selected soft tissue tumors.

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EWSR1-WT1 gene fusions in neoplasms other than desmoplastic small round cell tumor: a report of three unusual tumors involving the female genital tract and review of the literature

Cited by 27 publications

References 33 publications

The contribution of Juan Rosai to the pathology of soft tissue tumors

The contribution of Juan Rosai to the pathology of soft tissue tumors

Highlighting the Diversity of Desmoplastic Small Round Cell Tumor: A Case Series

The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors

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