Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC

Marco A. Pierotti, Massimo Santoro, Robert B. Jenkins, Gabriella Sozzi, Italia Bongarzone, Michele Grieco, Nicoletta Monzini, Monica Miozzo, Marie A. Herrmann, Alfredo Fusco, Ian D. Hay, Giuseppe Della Porta, Giancarlo Vecchio

Research output: Contribution to journalArticle

Abstract

RET/PTC is a transforming sequence created by the fusion of the tyrosine kinase domain of the RET protooncogene with the 5′ end of the locus D10S170 designated by probe H4 and is frequently found activated in human papillary thyroid carcinomas. RET and D10S170 have been mapped to contiguous regions of the long arm of chromosome 10: q11.2 and q21, respectively. To identify the mechanism leading to the generation of the oncogenic sequence RET/PTC, a combined cytogenetic and molecular analysis of several cases of papillary thyroid carcinomas was done. In four cases the results indicated that these tumors had RET/PTC activation and a paracentric inversion of the long arm of chromosome 10, inv(10)(q11.2q21), with breakpoints coincident with the regions where RET and D10S170 are located. Therefore, a chromosome 10q inversion provides the structural basis for the D10S170-RET fusion that forms the hybrid transforming sequence RET/PTC.

Original languageEnglish
Pages (from-to)1616-1620
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume89
Issue number5
Publication statusPublished - 1992

Keywords

  • Locus identified by probe H4

ASJC Scopus subject areas

  • Genetics
  • General

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