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. (C) 2011 Elsevier Ireland Ltd. All rights reserved.

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

CIAMPI, RAFFAELE;Ugolini C;TACITO, ALESSIA;BASOLO, FULVIO;ELISEI, ROSSELLA
2012-01-01

Abstract

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. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
2012
Ciampi, Raffaele; Romei, C; Cosci, B; Vivaldi, A; Bottici, V; Renzini, G; Ugolini, C; Tacito, Alessia; Basolo, Fulvio; Pinchera, A; Elisei, Rossella
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11568/199666
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