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Journal of Cancer Research and Clinical Oncology

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Open Access 01-03-2024 | Sarcoma | Review

Primary pulmonary myxoid sarcoma with EWSR1::CREB1 fusion: a literature review

Authors: Xinyu Miao, Jing Chen, Lan Yang, Hongyang Lu

Published in: Journal of Cancer Research and Clinical Oncology | Issue 3/2024

Abstract

Purpose

This review primarily aims to review the epidemiology, clinical characteristics, imaging, pathology, immunohistochemistry, diagnosis, differential diagnosis, treatment, and prognosis of Primary pulmonary myxoid sarcoma (PPMS) with EWS RNA binding protein 1::cAMP response element binding protein 1 (EWSR1::CREB1) fusion. It provides reference for the diagnosis and treatment of this disease.

Methods

Retrospectively collected the literature about PPMS with EWSR1::CREB1 fusion, its clinical, radiology, histology, molecular characteristics and current treatment strategies were collated and analyzed. This review provides a detailed differential diagnosis of the disease.

Results

PPMS is an exceptionally rare, low-grade malignant tumor of the lung. This tumor commonly infiltrates lung tissue and develops within bronchial passages. It is identified by a genetic rearrangement involving the EWSR1 gene and a distinct chromosomal translocation t(2; 22)(q33; q12). Variants include EWSR1::CREB1 fusion and EWS RNA binding protein 1::activating transcription factors (EWSR1::ATF1) fusion. PPMS with EWSR1::CREB1 fusion is more prevalent among middle-aged individuals and affects both sexes almost equally. Clinical symptoms are relatively non-specific, primarily including cough, hemoptysis, and weight loss. Most patients undergo surgery and experience a favorable prognosis. Further research is required to validate the effectiveness of alternative treatments for PPMS with EWSR1::CREB1 fusion.

Conclusion

EWSR1 rearrangement and EWSR1::CREB1 fusion are crucial genetic features of PPMS and serve as important diagnostic markers. Immunohistochemically, PPMS tests positive for EMA. In terms of treatment, surgery has been the primary approach in recent years. Therefore, the efficacy of other treatments still requires further investigation.

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Title: Primary pulmonary myxoid sarcoma with EWSR1::CREB1 fusion: a literature review
Authors: Xinyu Miao
Jing Chen
Lan Yang
Hongyang Lu
Publication date: 01-03-2024
Publisher: Springer Berlin Heidelberg
Keyword: Sarcoma
Published in: Journal of Cancer Research and Clinical Oncology / Issue 3/2024
Print ISSN: 0171-5216
Electronic ISSN: 1432-1335
DOI: https://doi.org/10.1007/s00432-024-05634-4

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