کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2196513 | 1098828 | 2012 | 7 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma](/preview/png/2196513.png)
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.
► We analyzed presence of RET copy number alterations (RET CNA) in 65 MTC (12 hereditary, 53 sporadic).
► We found RET CNA in 27.7% MTC and they were present only in a variable percentage of cells.
► In sporadic MTC, RET CNA were represented by chromosome 10 aneuploidy.
► In hereditary MTC, RET CNA were represented by RET amplification.
► RET not-mutated MTC, showed statistically significant correlation between RET CNA and poorer outcome.
Journal: Molecular and Cellular Endocrinology - Volume 348, Issue 1, 2 January 2012, Pages 176–182