A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma

Genes Chromosomes Cancer. 1994 Apr;9(4):244-50. doi: 10.1002/gcc.2870090404.

Abstract

Activation of the RET protooncogene tyrosine kinase (tk) by fusion with other genes is a frequent finding in papillary thyroid carcinoma. The tk domain of proto-RET can be fused either with the D10S170 gene generating the RET/PTC1 transforming sequence or with sequences belonging to the gene encoding the regulatory subunit RIA of c-AMP-dependent protein kinase A, thus forming the RET/PTC2 oncogene. We have previously shown that an inversion of chromosome 10, inv(10)(q11.2q21), is responsible for the generation of the RET/PTC1. Here we report that a chromosomal translocation, t(10;17)(q11.2;q23), juxta-poses the tk domain of the RET protooncogene, which resides on chromosome 10, to a 5' portion of the RIA gene on chromosome 17, leading to the formation of the chimeric transforming gene RET/PTC2. The finding of the transforming protein in primary tumor cell extracts supports the conclusion that RET/PTC2 activation plays a role in papillary thyroid tumorigenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3T3 Cells
  • Animals
  • Carcinoma, Papillary / genetics*
  • Chromosomes, Human, Pair 10 / ultrastructure*
  • Chromosomes, Human, Pair 17 / ultrastructure*
  • Cyclic AMP-Dependent Protein Kinases / genetics*
  • DNA, Neoplasm / genetics
  • Drosophila Proteins*
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Karyotyping
  • Mice
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Recombinant Fusion Proteins / genetics*
  • Thyroid Neoplasms / genetics*
  • Translocation, Genetic*

Substances

  • DNA, Neoplasm
  • Drosophila Proteins
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins
  • Recombinant Fusion Proteins
  • Proto-Oncogene Proteins c-ret
  • Receptor Protein-Tyrosine Kinases
  • Ret protein, Drosophila
  • Ret protein, mouse
  • Cyclic AMP-Dependent Protein Kinases