A t( 10; 17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma
✍ Scribed by Dr. Gabriella Sozzi; Ltalia Bongarzone; Monica Miouo; Maria Grazia Borrello; Marta Giaele Butti; Giuseppe Della Porta; Marco A. Pierotti; Silvana Pilotti
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 549 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1045-2257
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✦ Synopsis
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 DIOS170 gene generating the RETIPTCI transforming sequence or with sequences belonging to the gene encoding the regulatory subunit RIA of c-AMP-dependent protein kinase A, thus forming the RETIPTCZ oncogene. We have previously shown that an inversion of chromosome 10, inv( I O)(q I I .2q2 I), is responsible for the generation of the RETIPTCI. Here we report that a chromosomal translocation, t( 10 17)(q I I .2;q23), juxtaposes 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 RETIPTCZ. The finding of the transforming protein in primary tumor cell extracts supports the conclusion that RETIPTCZ activation plays a role in papillary thyroid tumorigenesis.