Round Cell Sarcoma with <i>EWSR1‐PATZ1</i> Gene Fusion in the Neck: Case Report and Review of the Literature

Park, Ki W.; Cai, Yi; Benjamin, Tania; Qorbani, Amir; George, Julia D.

doi:10.1002/lary.28554

Cited by 16 publications

(4 citation statements)

References 9 publications

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“…Rarely, other members of the ETS family, such as FEV , ETV1 , ETV4 , and ZSG , substitute for FLI1 , 7 or one may encounter FUS instead of EWSR1 due to their homology 7 . While we are not aware of specific cases, it appears quite likely that cases of EWSR1 ‐non‐ETS tumors such as EWSR1::PATZ1 / NFATc2 8–17 could present as more superficial tumors.…”

Section: Discussionmentioning

confidence: 82%

Fusion‐driven cutaneous and superficial mesenchymal and adnexal tumors—A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2‐rearranged adnexal carcinoma

Dehner,

Johnson,

Wieland

et al. 2024

J Cutan Pathol

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BackgroundWhile the list of fusion‐driven soft tissue neoplasms is expanding rapidly, their importance among cutaneous and superficial mesenchymal and adnexal neoplasms remains poorly understood. This challenge is especially evident in cases with ambiguous histopathology that are difficult to classify based on morphology.AimsOur goal was to investigate the benefits of next‐generation sequencing in diagnosing complex cutaneous neoplasms.Materials & MethodsDepartmental archives were searched for fusion‐driven cutaneous neoplasms. Slides were retrieved and clinical information including follow‐up was obtained.ResultsFifteen cases occurred in eight female and seven male patients, with a median age of 26 years (range: 1–83) at diagnosis. Tumors involved the extremities (9), scalp (5), and head and neck (1). Predominant features included myoepithelial (5), nested spindled with clear cytoplasm (2), atypical adnexal/squamoid (2), small round blue cell (2), cellular spindled (3), and fibrohistiocytic morphology (1). Most frequently encountered fusions involved EWSR1 (6) fused to ERG (1), FLI1 (1), CREB1 (2), CREM (1), PBX3 (1), followed by PLAG1 (4) with LIFR (2), TRPS1 (1) and CHCHD7. Additional fusions encountered were YAP1::NUTM1, EML4::ALK, SS18::SSX1 (2), and a novel fusion: ACTB::ZMIZ2. Integration of histologic features and molecular findings led to final diagnoses of primary cutaneous Ewing sarcoma (2), soft tissue myoepithelioma (4), cutaneous syncytial myoepithelioma (1), cutaneous adnexal carcinoma (1), porocarcinoma (1), inflammatory myofibroblastic tumor (1), synovial sarcoma (2), clear cell sarcoma (2), and angiomatoid fibrous histiocytoma (1).Discussion and conclusionOur results show that fusion testing can be a helpful diagnostic tool, especially in cases with unusual or uncommon morphology in superficial sites. Furthermore, it can allow for the identification of potential therapeutic targets in some instances.

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Section: Discussionmentioning

confidence: 82%

Fusion‐driven cutaneous and superficial mesenchymal and adnexal tumors—A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2‐rearranged adnexal carcinoma

Dehner,

Johnson,

Wieland

et al. 2024

J Cutan Pathol

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“…The histopathological and epigenetic distinction between sarcomas with EWSR1-PATZ1 fusion and NET, PATZ1- fusion positive is still not clear. Indeed, CNS and extra-CNS tumors with PATZ1 fusion share some histopathological features (microcysts, collagenous stroma and pseudorosettes, and a mesenchymal component described in a part of NET- PATZ1 ) and a polyphenotypic immunoprofile (expression of glial, neuronal and CD34 in both) [ 1 , 11 , 15 – 17 ]. The DNA methylation analysis (v12.3) classified our case as a NET, PATZ1 , although the tumor did not harbor a PATZ1 fusion.…”

Section: Discussionmentioning

confidence: 99%

A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions

Tauziède‐Espariat

Chotard

Loarer

et al. 2022

acta neuropathol commun

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A novel DNA methylation class of tumor within the central nervous system, the "neuroepithelial tumor (NET), PATZ1 fusion-positive” has recently been identified in the literature, characterized by EWSR1- and MN1-PATZ1 fusions. The cellular origin of this tumor type remains unknown, wavering between glioneuronal or mesenchymal (as round cell sarcomas with EWSR1-PATZ1 of the soft tissue). Because of the low number of reported cases, this tumor type will not be added to the 2021 World Health Organization Classification of Tumors of the Central Nervous System (CNS). Herein, we report one case of a CNS tumor classified by DNA methylation analysis as NET-PATZ1 but harboring a novel LARGE1-AFF2 fusion which has until now never been described in soft tissue or the CNS. We compare its clinical, histopathological, immunophenotypical, and genetic features with those previously described in NET-PATZ1. Interestingly, the current case presented histopathological (astroblastoma-like features, glioneuronal phenotype), clinical (with a favorable course), genetic (1p loss), and epigenetic (DNA-methylation profiling) similarities to previously reported cases of NET-PATZ1. Our results added data suggesting that different histomolecular tumor subtypes seem to be included within the methylation class “NET, PATZ1 fusion-positive”, including non PATZ1 fusions, and that further cases are needed to better characterize them.

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“…14 Five studies of EWSR1::PATZ1 soft tissue sarcomas have been published over the past 3 years, comprising a total of 20 cases. [46][47][48][49][50] Although these lesions show some clinical, morphological and immunohistochemical variability, there appear to be enough common features for EWSR1::PATZ1 soft tissue sarcoma to be confidently regarded as representing a discrete entity.…”

Section: Ewsr1::patz1 Sarcomamentioning

confidence: 99%

‘I Can’t Keep Up!’: an update on advances in soft tissue pathology occurring after the publication of the 2020 World Health Organization classification of soft tissue and bone tumours

Folpe

2021

Histopathology

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Progress in our understanding of the pathogenesis and diagnosis of soft tissue neoplasia is exceptionally rapid. Although the most recent World Health Organization classification of soft tissue tumours contains many new entities and refinements of older ones, even this comprehensive document is by now incomplete or in need of modification. This review will attempt to summarise the developments in soft tissue pathology that have occurred since 2020, emphasising lesions for which morphology and genetics intersect in a complementary fashion. Novel entities discussed include KMT2A-rearranged sarcoma, PRRX::NCOAx fibroblastic tumours, EWSR1::PATZ1 sarcomas, BRAF-altered infantile fibrosarcoma-like lesions, NUTM1-rearranged colorectal sarcomas, and a variety of interesting giant cell-rich and matrix-producing lesions. In addition, recently described mimics of atypical lipomatous tumour/welldifferentiated liposarcoma are covered, as is a wholly new, morphologically defined and genetically confirmed entity, pseudoendocrine sarcoma. Finally, exciting new developments in the use of immunohistochemistry as a surrogate for molecular genetic techniques are discussed.

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Round Cell Sarcoma with EWSR1‐PATZ1 Gene Fusion in the Neck: Case Report and Review of the Literature

Cited by 16 publications

References 9 publications

Fusion‐driven cutaneous and superficial mesenchymal and adnexal tumors—A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2‐rearranged adnexal carcinoma

Fusion‐driven cutaneous and superficial mesenchymal and adnexal tumors—A clinicopathologic and molecular study of 15 cases, including a novel case of ACTB::ZMIZ2‐rearranged adnexal carcinoma

A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions

‘I Can’t Keep Up!’: an update on advances in soft tissue pathology occurring after the publication of the 2020 World Health Organization classification of soft tissue and bone tumours

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