EWSR1-PATZ1-rearranged sarcoma: a report of nine cases of spindle and round cell neoplasms with predilection for thoracoabdominal soft tissues and frequent expression of neural and skeletal muscle markers

Rubin, Brian P.; Agaimy, Abbas; Kösemehmetoğlu, Kemal; Rudzinski, Erin R.; Linos, Konstantinos; John, Ivy; Gatalica, Zoran; Davis, Jessica L.; Liu, Yajuan J.; McKenney, Jesse K.; Billings, Steven D.; Švajdler, Marián; Koshyk, Olena; Kinkor, Z; Michalová, Květoslava; Kalmykova, Antonina; Yusifli, Zarifa; Ptáková, Nikola; Hájková, Veronika; Grossman, Petr; Šteiner, Petr

doi:10.1038/s41379-020-00684-8

Cited by 34 publications

(35 citation statements)

References 43 publications

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“…Recently, more knowledge was gained based on advanced molecular technologies. EWSR1-PATZ-rearranged sarcoma seems to be a separate entity with a wide clinicopathological spectrum [26,29]. VEZF1 is considered a paralogue of PATZ, and the few cases described with EWSR1-VEZF1 are similar to the PATZ-rearranged cases in terms of morphology and immunoprofile [29][30][31].…”

Section: Ewing Sarcomamentioning

confidence: 97%

“…The age ranges from early childhood to the elderly, with an average age in the fourth decade. The anatomic sites vary, with lesions being located superficially and deep, mainly in the trunk (thorax, including lung; abdomen), and rarely in the head and neck and extremities [29]. Intracranial localization is also reported [29,32].…”

Section: Ewing Sarcomamentioning

confidence: 99%

“…Hyalinization of vessel walls are other possible features. Necrosis may occur but is mostly not prominent [29,[33][34][35]. Low-grade appearing tumors: the spindled, epithelioid, ovoid, and round cells are set in a hyaline stroma reminiscent of solitary fibrous tumors and myoepithelioma.…”

Section: Ewing Sarcomamentioning

confidence: 99%

“…There is a polytypic immunophenotype with variable expression of neural, skeletal muscle, and epithelial markers. OLIG2 is also positive [29].…”

mentioning

confidence: 93%

“…Whether a transition may occur from low-grade to high-grade morphology as seen in myxoid/round-cell liposarcoma amongst others is yet unknown [29].…”

mentioning

confidence: 99%

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EWSR1—The Most Common Rearranged Gene in Soft Tissue Lesions, Which Also Occurs in Different Bone Lesions: An Updated Review

et al. 2021

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EWSR1 belongs to the FET family of RNA-binding proteins including also Fused in Sarcoma (FUS), and TATA-box binding protein Associated Factor 15 (TAF15). As consequence of the multifunctional role of EWSR1 leading to a high frequency of transcription of the chromosomal region where the gene is located, EWSR1 is exposed to aberrations such as rearrangements. Consecutive binding to other genes leads to chimeric proteins inducing oncogenesis. The other TET family members are homologous. With the advent of widely used modern molecular techniques during the last decades, it has become obvious that EWSR1 is involved in the development of diverse benign and malignant tumors with mesenchymal, neuroectodermal, and epithelial/myoepithelial features. As oncogenic transformation mediated by EWSR1-fusion proteins leads to such diverse tumor types, there must be a selection on the multipotent stem cell level. In this review, we will focus on the wide variety of soft tissue and bone entities, including benign and malignant lesions, harboring EWSR1 rearrangement. Fusion gene analysis is the diagnostic gold standard in most of these tumors. We present clinicopathologic, immunohistochemical, and molecular features and discuss differential diagnoses.

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Section: Ewing Sarcomamentioning

confidence: 97%

Section: Ewing Sarcomamentioning

confidence: 99%

Section: Ewing Sarcomamentioning

confidence: 99%

“…There is a polytypic immunophenotype with variable expression of neural, skeletal muscle, and epithelial markers. OLIG2 is also positive [29].…”

mentioning

confidence: 93%

“…Whether a transition may occur from low-grade to high-grade morphology as seen in myxoid/round-cell liposarcoma amongst others is yet unknown [29].…”

mentioning

confidence: 99%

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