title: RET rearrangements in familial papillary thyroid carcinomas.
abstract: Familial papillary thyroid carcinoma (FPTC) is an inherited tumor characterized by a more aggressive phenotype than that of its sporadic counterpart. Its mode of inheritance as well as its genetic and molecular bases are still poorly understood. On the contrary, genetic alterations in sporadic papillary thyroid carcinoma (PTC) are better characterized, the most common one involving the activation of the proto-oncogene RET through somatic rearrangements. In the present study, we investigated by interphase fluorescence in situ hybridization the presence of RET rearrangements in a series of 20 FPTC. We show that one FPTC and the adenoma from the same patient carry a RET rearrangement (type PTC1) and that this rearrangement is absent in the germline. Furthermore, we excluded a RET haplotype sharing in two brothers of the same family. These results show that RET rearrangements can indeed be found in FPTC and confirm that RET is not involved in the inherited predisposition to FPTC.
authors.affiliation: Genetics Cancer Susceptibility Unit, International Agency for Research on Cancer, 150 Cours Albert Thomas, 69372 Lyon cedex 08, France. r.corvi@iarc.fr
authors.forename: R
authors.initials: R
authors.lastname: Corvi
authors.forename: F
authors.initials: F
authors.lastname: Lesueur
authors.forename: M
authors.initials: M
authors.lastname: Martinez-Alfaro
authors.forename: M
authors.initials: M
authors.lastname: Zini
authors.forename: M
authors.initials: M
authors.lastname: Decaussin
authors.forename: A
authors.initials: A
authors.lastname: Murat
authors.forename: G
authors.initials: G
authors.lastname: Romeo
mesh_terms: D000328:Adult; D002291:Carcinoma, Papillary / Q000235:genetics*; D029721:Drosophila Proteins; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D010375:Pedigree; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila