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Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma |
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| Authors: | Ciampi Raffaele Romei Cristina Cosci Barbara Vivaldi Agnese Bottici Valeria Renzini Giulia Ugolini Clara Tacito Alessia Basolo Fulvio Pinchera Aldo Elisei Rossella |
| Affiliation: | a Department of Endocrinology and Metabolism, University-Hospital of Pisa, 56100 Pisa, Italy b Department of Surgery, University-Hospital of Pisa, 56100 Pisa, Italy c AMBISEN Center, High Technology Center for the Study of the Environmental Damage of the Endocrine and Nervous Systems, University-Hospital of Pisa, 56124 Pisa, Italy |
| 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. |
| Keywords: | Medullary Thyroid Carcinoma RET RET mutation Aneuploidy FISH |
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