EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-02-15

AUTHORS

E. Sanpaolo, M. Miroballo, S. Corbetta, C. Verdelli, F. Baorda, T. Balsamo, P. Graziano, F. P. Fabrizio, L. Cinque, A. Scillitani, L. A. Muscarella, Vito Guarnieri

ABSTRACT

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. More... »

PAGES

55-59

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12020-016-0892-y

DOI

http://dx.doi.org/10.1007/s12020-016-0892-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1047640116

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26876532


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33 schema:description Abstract 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.
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41 EZH2
42 EZH2 gene
43 Further studies
44 Italian cohort
45 PCR
46 ZFX gene
47 ZFX oncogenes
48 adenomas
49 aim
50 behavior
51 benign parathyroid adenoma
52 blood
53 boundaries
54 carcinoma
55 cohort
56 different ethnicities
57 different prevalence
58 end
59 ethnicity
60 exome sequencing
61 exon 16
62 frequency
63 genes
64 hand
65 hyperparathyroidism
66 hypothesis
67 impact
68 large cohort
69 large population
70 malignant behavior
71 malignant tumors
72 most parathyroid tumours
73 mutations
74 neoplasms
75 occurrence
76 oncogene
77 onset
78 outcomes
79 ovary malignant tumours
80 overall frequency
81 paraffin
82 parathyroid adenoma
83 parathyroid carcinoma
84 parathyroid neoplasms
85 parathyroid tumors
86 polymorphism
87 population
88 possible outcomes
89 prevalence
90 probands
91 process
92 results
93 role
94 rs2072407 variant
95 rs78589034 variant
96 same mutation
97 samples
98 sequence
99 sequencing
100 somatic mutations
101 splicing process
102 sporadic parathyroid carcinoma
103 study
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