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

  • Christian KoelscheEmail author
  • Luca Tavernar
  • Olaf Neumann
  • Claus Peter Heußel
  • Ralf Eberhardt
  • Hauke Winter
  • Albrecht Stenzinger
  • Gunhild MechtersheimerEmail author
Brief Report


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.


EWSR1 CREB1 Primary pulmonary myxoid sarcoma NGS 


Author’s contributions

G.M. conceived the project. C.K. wrote the manuscript. L.T. coordinated data generation. A.S. and O.N. analyzed molecular data. C.P.H., R.E. and H.W. provided tumor samples and metadata. All authors read and approved the final manuscript.

Compliance with ethical standards

Informed consent

Written informed consent for publication is obtained from the patient.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Institute of PathologyUniversity Hospital HeidelbergHeidelbergGermany
  2. 2.Diagnostic and Interventional Radiology with Nuclear MedicineThoraxklinik at Heidelberg University HospitalHeidelbergGermany
  3. 3.Translational Lung Research Center (TLRC) Heidelberg, Member of the German Center for Lung Research (DZL)HeidelbergGermany
  4. 4.Diagnostic and Interventional of RadiologyUniversity Hospital HeidelbergHeidelbergGermany
  5. 5.Pneumology and Critical Care MedicineUniversity Hospital HeidelbergHeidelbergGermany
  6. 6.Department of SurgeryThoraxklinik at University Hospital HeidelbergHeidelbergGermany

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