Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma.

Raffaele Ciampi, Cristina Romei, Barbara Cosci, Agnese Vivaldi, Valeria Bottici, Giulia Renzini, Clara Ugolini, Alessia Tacito, Fulvio Basolo, Aldo Pinchera, Rossella Elisei

Department of Endocrinology and Metabolism, University-Hospital of Pisa, 56100 Pisa, Italy.

Molecular and cellular endocrinology 2012 Jan 2

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About 30% of hereditary Medullary Thyroid Carcinoma (MTC) have been demonstrated to harbour imbalance between mutant and wild-type RET alleles. We studied the RET copy number alterations (RET CNA) in 65 MTC and their correlation with RET mutation and patients' outcome. Fluorescence in situ Hybridization and Real-time PCR revealed RET CNA in 27.7% MTC but only in a variable percentage of cells. In sporadic MTC, RET CNA were represented by chromosome 10 aneuploidy while in hereditary MTC by RET amplification. A significant higher prevalence of RET CNA was observed in RET mutated MTC (P=0.003). RET CNA was also associated to a poorer outcome (P=0.005). However, the multivariate analysis revealed that only RET mutation and advanced clinical stage correlated with the worst outcome. In conclusion, 30% MTC harbour RET CNA in variable percentage of cells suggesting cell heterogeneity. RET CNA can be considered a poor prognostic factor potentiating the poor prognostic role of RET mutation. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

Citation

Raffaele Ciampi, Cristina Romei, Barbara Cosci, Agnese Vivaldi, Valeria Bottici, Giulia Renzini, Clara Ugolini, Alessia Tacito, Fulvio Basolo, Aldo Pinchera, Rossella Elisei. Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma. Molecular and cellular endocrinology. 2012 Jan 2;348(1):176-82