Identification of the transforming STRN-ALK fusion as a potential therapeutic target in the aggressive forms of thyroid cancer

Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4233-8. doi: 10.1073/pnas.1321937111. Epub 2014 Feb 3.

Abstract

Thyroid cancer is a common endocrine malignancy that encompasses well-differentiated as well as dedifferentiated cancer types. The latter tumors have high mortality and lack effective therapies. Using a paired-end RNA-sequencing approach, we report the discovery of rearrangements involving the anaplastic lymphoma kinase (ALK) gene in thyroid cancer. The most common of these involves a fusion between ALK and the striatin (STRN) gene, which is the result of a complex rearrangement involving the short arm of chromosome 2. STRN-ALK leads to constitutive activation of ALK kinase via dimerization mediated by the coiled-coil domain of STRN and to a kinase-dependent, thyroid-stimulating hormone-independent proliferation of thyroid cells. Moreover, expression of STRN-ALK transforms cells in vitro and induces tumor formation in nude mice. The kinase activity of STRN-ALK and the ALK-induced cell growth can be blocked by the ALK inhibitors crizotinib and TAE684. In addition to well-differentiated papillary cancer, STRN-ALK was found with a higher prevalence in poorly differentiated and anaplastic thyroid cancers, and it did not overlap with other known driver mutations in these tumors. Our data demonstrate that STRN-ALK fusion occurs in a subset of patients with highly aggressive types of thyroid cancer and provide initial evidence suggesting that it may represent a therapeutic target for these patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anaplastic Lymphoma Kinase
  • Base Sequence
  • Blotting, Western
  • Calmodulin-Binding Proteins / genetics*
  • Crizotinib
  • Gene Fusion / genetics*
  • HEK293 Cells
  • Humans
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Pyrazoles
  • Pyridines
  • Pyrimidines
  • Real-Time Polymerase Chain Reaction
  • Receptor Protein-Tyrosine Kinases / antagonists & inhibitors
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, RNA
  • Thyroid Neoplasms / genetics*
  • Transcriptome / genetics*

Substances

  • Calmodulin-Binding Proteins
  • Membrane Proteins
  • NVP-TAE684
  • Nerve Tissue Proteins
  • Pyrazoles
  • Pyridines
  • Pyrimidines
  • STRN protein, human
  • Crizotinib
  • ALK protein, human
  • Alk protein, mouse
  • Anaplastic Lymphoma Kinase
  • Receptor Protein-Tyrosine Kinases