Copy Number Variation in CCND1 Gene Is Implicated in the Pathogenesis of Sporadic Parathyroid Carcinoma

L Zhao, L Sun, D Liu, X He, B Tao, G Ning… - World journal of …, 2014 - Wiley Online Library
L Zhao, L Sun, D Liu, X He, B Tao, G Ning, J Liu, H Zhao
World journal of surgery, 2014Wiley Online Library
Background The molecular bases for parathyroid carcinomas present in conjunction with
sporadic primary hyperparathyroidism are not fully elucidated. Gene copy number variations
(CNVs) play an important role in tumorigenesis. The aim of the current study was to explore
whether the CNVs of specific tumor‐associated genes are involved in parathyroid
carcinogenesis. Methods A multiplex ligation‐dependent probe amplification method was
used to compare differences in copy number in 39 common tumor‐associated genes among …
Abstract
Background
The molecular bases for parathyroid carcinomas present in conjunction with sporadic primary hyperparathyroidism are not fully elucidated. Gene copy number variations (CNVs) play an important role in tumorigenesis. The aim of the current study was to explore whether the CNVs of specific tumor‐associated genes are involved in parathyroid carcinogenesis.
Methods
A multiplex ligation‐dependent probe amplification method was used to compare differences in copy number in 39 common tumor‐associated genes among 7 patients with parathyroid carcinoma and 14 age‐ and sex‐matched subjects with parathyroid adenoma.
Results
It was shown that amplification of CCND1, a gene encoding cyclin D1, was more prevalent in parathyroid carcinomas than in adenomas (71 vs. 21 %, p = 0.056). This result was confirmed quantitatively by real‐time polymerase chain reaction. Expression of CCND1 mRNA level was significantly higher in carcinomas than in adenomas (p = 0.003). Western blot and immunohistochemical analysis also demonstrated higher expression of CCND1 in carcinoma specimens than in adenoma samples.
Conclusions
It is thus inferred that gain in copy number of CCND1 is implicated in the molecular pathogenesis of parathyroid carcinoma.
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