Pediatric Non-Myofibroblastic Primitive Spindle Cell Tumors with ALK Gene Rearrangements and Response to Crizotinib

Int J Surg Pathol. 2022 Sep;30(6):706-715. doi: 10.1177/10668969221080072. Epub 2022 Feb 14.

Abstract

We describe two poorly differentiated, non-myofibroblastic (SMA-, S100+, CD34±), spindle cell neoplasms with immunohistochemical positivity for ALK and with ALK gene rearrangements leading to PLEKHH2::ALK and CLTC::ALK fusions, respectively. ALK protein overexpression and/or gene fusions should be evaluated in poorly differentiated spindle cell neoplasms, even when there is an absence of a myofibroblastic phenotype. A positive ALK evaluation has therapeutic implications as both tumors responded to single-agent treatment with the tyrosine kinase inhibitor crizotinib.

Keywords: ALK; CLTC; PLEKHH2; RNA sequencing; crizotinib; gene fusion; pediatric; spindle cell tumor.

MeSH terms

  • Anaplastic Lymphoma Kinase / genetics
  • Crizotinib / therapeutic use
  • Gene Rearrangement
  • Humans
  • Myofibroblasts* / pathology
  • Protein Kinase Inhibitors* / pharmacology
  • Protein Kinase Inhibitors* / therapeutic use

Substances

  • Protein Kinase Inhibitors
  • Crizotinib
  • Anaplastic Lymphoma Kinase