Primary pulmonary myxoid sarcoma with EWSR1-CREB1 fusion: a new tumor entity.

K. Thway, A.G. Nicholson, K. Lawson, D. Gonzalez, A. Rice, B. Balzer, J. Swansbury, T. Min, L. Thompson, K. Adu-Poku, A. Campbell, C. Fisher

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72 Citations (Scopus)


We present clinicopathologic data on 10 pulmonary myxoid sarcomas, which are defined by distinctive histomorphologic features and characterized by a recurrent fusion gene, that appear to represent a distinct tumor entity at this site. The patients [7 female, 3 male; aged 27 to 67 y (mean, 45 y)] presented with local or systemic symptoms (n=5), symptoms from cerebral metastasis (1), or incidentally (2). Follow-up of 6 patients showed that 1 with brain metastasis died shortly after primary tumor resection, 1 developed a renal metastasis but is alive and well, and 4 are disease free after 1 to 15 years. All tumors involved pulmonary parenchyma, with a predominant endobronchial component in 8 and ranged from 1.5 to 4 cm. Microscopically, they were lobulated and composed of cords of polygonal, spindle, or stellate cells within myxoid stroma, morphologically reminiscent of extraskeletal myxoid chondrosarcoma. Four cases showed no or minimal atypia, 6 showed focal pleomorphism, and 5 had necrosis. Mitotic indices varied, with most tumors not exceeding 5/10 high-power fields. Tumors were immunoreactive for only vimentin and weakly focal for epithelial membrane antigen. Of 9 tumors, 7 were shown to harbor a specific EWSR1-CREB1 fusion by reverse transcription-polymerase chain reaction and direct sequencing, with 7 of 10 showing EWSR1 rearrangement by fluorescence in situ hybridization. This gene fusion has been described previously in 2 histologically and behaviorally different sarcomas: clear cell sarcoma-like tumors of the gastrointestinal tract and angiomatoid fibrous histiocytomas; however, this is a novel finding in tumors with the morphology we describe and that occur in the pulmonary region.
Original languageEnglish
Pages (from-to)1722-1732
Number of pages11
JournalAmerican Journal of Surgical Pathology
Issue number11
Publication statusPublished - Nov 2011


  • Adult
  • Aged
  • Biomarkers, Tumor
  • Biopsy
  • Brain Neoplasms
  • Calmodulin-Binding Proteins
  • Cyclic AMP Response Element-Binding Protein
  • Disease-Free Survival
  • Female
  • Gene Fusion
  • Gene Rearrangement
  • Genotype
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Lung Neoplasms
  • Male
  • Middle Aged
  • Phenotype
  • Prognosis
  • RNA-Binding Proteins
  • Retrospective Studies
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma
  • Sequence Analysis, DNA
  • Time Factors

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