Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms*

Jessica L. Davis, Sara O. Vargas, Erin R. Rudzinski, Jessica M. López Marti, Katherine Janeway, Suzanne Forrest, Katrina Winsnes, Navin Pinto, Sung E. Yang, Mandy VanSandt, Theonia K. Boyd, Christopher L. Corless, Yajuan J. Liu, Lea F. Surrey, Marian H. Harris, Alanna Church, Alyaa Al-Ibraheemi

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


Aims: The classification of paediatric spindle mesenchymal tumours is evolving, and the spectrum of so-called ‘infantile fibrosarcoma’ has expanded to include tumours with NTRK, BRAF and MET gene fusions. RET-rearranged paediatric spindle cell neoplasms are an emerging group; there is sparse literature on their clinical, pathological and genetic features, and their nosological place in the canon of soft tissue tumours is uncertain. In this study, we report five RET-rearranged paediatric spindle cell tumours with fusion partners MYH10, KIAA1217 and CLIP2. Methods and results: The tumours occurred in the pelvic region, paraspinal region, kidney and subcutaneous tissue of hand and abdomen. The patients’ ages ranged from 6 months to 13 years (median 1 year). The tumours were composed of monomorphic spindle cells arranged in a fascicular pattern. Lesional cells had minimally atypical ovoid or tapered nuclei and pale cytoplasm with indistinct borders. Necrosis was not identified. Mitoses numbered three to 12 per 10 high-power field. Cases showed inconsistent and variable expression of S100, CD34 and SMA. Clinical behaviour ranged from small lesions potentially cured by simple resection to large lesions exhibiting metastasis, but responsive to kinase inhibitor therapy. Conclusions: Our findings help to define RET-rearranged spindle cell tumours. Although it is likely that these tumours comprise part of the morphological and clinical spectrum of infantile fibrosarcoma (IFS), identification of RET gene alteration is important for its unique therapeutic implications.

Original languageEnglish (US)
Pages (from-to)1032-1041
Number of pages10
Issue number7
StatePublished - Jun 1 2020


  • RET
  • infantile fibrosarcoma
  • paediatric
  • sarcoma
  • spindle

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology


Dive into the research topics of 'Recurrent RET gene fusions in paediatric spindle mesenchymal neoplasms*'. Together they form a unique fingerprint.

Cite this