EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms

Several studies reported somatic mutations of many genes ( MEN1 , CTNNB1 , CDKIs and others) in parathyroid adenoma, although with different prevalence. Recently, activating mutations of the EZH2 and ZFX oncogenes were identified in benign parathyroid adenoma by whole exome sequencing. The same muta...

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Bibliographic Details
Published in:	Endocrine Vol. 54; no. 1; pp. 55 - 59
Main Authors:	Sanpaolo, E., Miroballo, M., Corbetta, S., Verdelli, C., Baorda, F., Balsamo, T., Graziano, P., Fabrizio, F. P., Cinque, L., Scillitani, A., Muscarella, L. A., Guarnieri, Vito
Format:	Journal Article
Language:	English
Published:	New York Springer US 01-10-2016 Springer Nature B.V
Subjects:	Adenoma - genetics Adenoma - pathology Alleles Carcinoma - genetics Carcinoma - pathology Diabetes Endocrine Genetics/Epigenetics Endocrinology Enhancer of Zeste Homolog 2 Protein - genetics Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Humanities and Social Sciences Humans Hyperparathyroidism - genetics Hyperparathyroidism - pathology Internal Medicine Kruppel-Like Transcription Factors - genetics Medicine Medicine & Public Health Middle Aged multidisciplinary Mutation Neoplasia Oncogenes Oncogenes - genetics Parathyroid Glands - pathology Parathyroid Neoplasms - genetics Parathyroid Neoplasms - pathology Polymorphism Science Atypical adenoma ZFX EZH2 Parathyroid carcinoma
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Summary:	Several studies reported somatic mutations of many genes ( MEN1 , CTNNB1 , CDKIs and others) in parathyroid adenoma, although with different prevalence. Recently, activating mutations of the EZH2 and ZFX oncogenes were identified in benign parathyroid adenoma by whole exome sequencing. The same mutations had been found in blood and ovary malignant tumours. On one hand, this result raised the hypothesis that these oncogenes may play a role in the onset of parathyroid tumour, but it would also suggest they may be involved in malignant, rather benign, parathyroid neoplasm. Our aim was to verify the occurrence of selected mutations of the EZH2 and ZFX genes in an Italian cohort of 23 sporadic parathyroid carcinomas, 12 atypical and 45 typical adenomas. DNA was extracted from paraffin-embedded tissues, PCR amplified and directly sequenced. No mutations were detected in the coding sequence and boundaries of both genes in any of the samples. Two polymorphisms of the EZH2 gene were identified with different prevalence: the rs2072407 variant was present in the 30 % of the samples, in keeping with the overall frequency in larger populations, while the rs78589034 variant, located close to the 5′ end of the exon 16, was detected in only one proband with familial isolated hyperparathyroidism; we investigated the possible outcome on the splicing process. EZH2 and ZFX genes do not seem to have an impact on the onset of most parathyroid tumours, both benign and malignant, though further studies on larger cohorts of different ethnicity are needed.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1355-008X 1559-0100
DOI:	10.1007/s12020-016-0892-y