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Emerging mesenchymal tumour types and biases in the era of ubiquitous sequencing
  1. Emily Anne Towery,
  2. David James Papke
  1. Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA
  1. Correspondence to Dr David James Papke, Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA; dpapke{at}


New tumour types are being described at increasing frequency, and most new tumour types are now identified via retrospective review of next-generation sequencing data. This contrasts with the traditional, morphology-based method of identifying new tumour types, and while the sequencing-based approach has accelerated progress in the field, it has also introduced novel and under-recognised biases. Here, we discuss tumour types identified based on morphology, including superficial CD34-positive fibroblastic tumour, pseudoendocrine sarcoma and cutaneous clear cell tumour with melanocytic differentiation and ACTIN::MITF fusion. We also describe tumour types identified primarily by next-generation sequencing, including epithelioid and spindle cell rhabdomyosarcoma, round cell neoplasms with EWSR1::PATZ1 fusion, cutaneous melanocytic tumour with CRTC1::TRIM11 fusion, clear cell tumour with melanocytic differentiation and MITF::CREM fusion and GLI1-altered mesenchymal neoplasms, including nested glomoid neoplasm.

  • genes, neoplasm
  • immunohistochemistry
  • sarcoma
  • soft tissue neoplasms
  • pathology, surgical

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  • Handling editor Vikram Deshpande.

  • Twitter @EToweryMD, @PapkeDavid

  • Contributors EAT and DJP wrote and edited the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.