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Updated: Sep 22, 2025

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Tyrosine kinase-altered spindle cell neoplasms with EGFR internal tandem duplications

Erica Kao1, Navin Pinto2, Angela Trobaugh-Lotrario3

  • 1Department of Pathology, San Antonio Uniformed Services Health Education Consortium, San Antonio, Texas, USA.

Genes, Chromosomes & Cancer
|May 20, 2022
PubMed

Insights

This study identifies epidermal growth factor receptor (EGFR) internal tandem duplications (ITD) in two pediatric spindle cell tumors outside the kidney. These findings highlight EGFR ITDs as a potential therapeutic target in rare pediatric neoplasms.

Area of Science:

  • Oncology
  • Molecular Pathology
  • Pediatric Neoplasms

Background:

  • Spindle cell neoplasms in children are diverse and often molecularly driven.
  • Tyrosine kinase alterations are increasingly recognized in pediatric tumors.
  • Extra-renal pediatric tumors require further molecular characterization.

Purpose of the Study:

  • To report the first cases of epidermal growth factor receptor (EGFR) internal tandem duplications (ITD) in pediatric extra-renal spindle cell neoplasms.
  • To characterize the histology and immunophenotype of these unique tumors.
  • To explore the implications of EGFR alterations as potential therapeutic targets.

Main Methods:

  • Histopathological examination of tumor samples.
  • Immunohistochemical staining for CD34, S100, and SMA.
  • Molecular analysis to detect EGFR ITDs and rule out panTRK fusions.

Main Results:

  • Two pediatric extra-renal spindle cell neoplasms with EGFR ITDs were identified.
  • Histologic features ranged from lipofibromatosis-like to infantile fibrosarcoma-like.
  • Variable expression of CD34, S100, and SMA; all cases were panTRK negative.

Conclusions:

  • EGFR ITDs are a novel molecular alteration in pediatric extra-renal spindle cell neoplasms.
  • These findings expand the spectrum of tyrosine kinase-altered spindle cell tumors.
  • EGFR alterations, independent of gene fusions, represent a potential therapeutic avenue, warranting broader molecular testing.
Keywords:
EGFRinternal tandem duplicationkinase domain duplicationtyrosine kinase

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