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A t( 10; 17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma
Author(s) -
Sozzi Gabriella,
Bongarzone Ltalia,
Miouo Monica,
Borrello Maria Grazia,
Butti Marta Giaele,
Porta Giuseppe Della,
Pierotti Marco A.,
Pilotti Silvana
Publication year - 1994
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.2870090404
Subject(s) - proto oncogene proteins c ret , biology , gene , chromosomal translocation , thyroid carcinoma , cancer research , carcinogenesis , fusion protein , thyroid , fusion gene , chimeric gene , microbiology and biotechnology , pax8 , genetics , gene expression , receptor , recombinant dna , transcription factor , neurotrophic factors , glial cell line derived neurotrophic factor
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 / PTCI transforming sequence or with sequences belonging to the gene encoding the regulatory subunit R/A 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 / PTCI. Here we report that a chromosomal translocation, t(10;17)(q11.2;q23), juxtaposes the tk domain of the RET protooncogene, which resides on chromosome 10, to a 5′ portion of the R / A 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. Genes Chrom Cancer 9:244‐250 (1994). © 1994 Wiley‐Liss, Inc.