Primary pulmonary myxoid sarcoma with an unusual gene fusion between exon 7 of EWSR1 and exon 5 of CREB1.

• 影响指数: 4.535
• 发表时间: May 2020
• 来源期刊: Virchows Arch
• DOI: 10.1007/s00428-019-02716-4
• PMID: 31776646
• 文章类型: Case Reports
• 中科院分区: Q2
• 方向: 医学
• 作者列表: Koelsche C,Tavernar L,Neumann O,Heußel CP,Eberhardt R,Winter H,Stenzinger A,Mechtersheimer G

关键词: CREB1; EWSR1; NGS; Primary pulmonary myxoid sarcoma

Mesh: Adult; CREB-Binding Protein / genetics; Cyclic AMP Response Element-Binding Protein / genetics; Exons / genetics; Female; Gene Fusion; Humans; Lung / diagnostic imaging; Lung Neoplasms / diagnostic imaging genetics pathology; RNA-Binding Protein EWS / genetics; Sarcoma / diagnostic imaging genetics pathology

Abstract

Primary pulmonary mesenchymal tumors are rare, yet they compromise a variety of entities. A novel low-grade malignant neoplasm coined primary pulmonary myxoid sarcoma (PPMS) has been introduced in the WHO classification of lung tumors. Molecular analysis in PPMS revealed recurrent gene fusions between EWSR1 and CREB1, a member of the cAMP response element binding protein (CREB) family. However, only 23 PPMS have been reported in the literature reflecting their exceedingly low incidence. Here, we describe the case of a 41-year-old female patient with a lung tumor obstructing the right main bronchus. Histologically, the tumor was composed of spindle-shaped and epithelioid cells exhibiting a reticular growth pattern within a prominent myxoid matrix. Solid areas were also observed. Molecular analysis by next-generation sequencing identified a fusion transcript with an unusual gene fusion involving exon 7 of EWSR1 and exon 5 of CREB1. Together, the diagnosis PPMS was established.