Abstract | CONTEXT: OBJECTIVE: PATIENTS AND DESIGN: RESULTS: A somatic AIP mutation, substitution of arginine with glutamine at codon 304 (R304Q), was identified in 2 of 132 tumors. The mutation was germline in both cases despite the nonfamilial presentation. Heterozygous AIP large deletions were detected in 29 cases including 1 of the 2 mutated tumors, confirming a biallelic inactivation of the AIP gene. The AIP-mutated tumor with LOH showed decreased AIP immunostaining compared with normal parathyroid. LOH at the MEN1 locus, which often shared LOH at the AIP locus, was found in one third of tumors. Somatic MEN1 mutations were found in the 1 of the 2 AIP-mutated tumors and in 22 parathyroid adenomas. In addition, multiplex ligation-dependent probe amplification analysis revealed 1 large deletion of the MEN1 gene in 1 patient. CONCLUSIONS:
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Authors | Elena Pardi, Claudio Marcocci, Simona Borsari, Federica Saponaro, Liborio Torregrossa, Mariella Tancredi, Benedetta Raspini, Fulvio Basolo, Filomena Cetani |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 98
Issue 7
Pg. 2800-10
(Jul 2013)
ISSN: 1945-7197 [Electronic] United States |
PMID | 23633209
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Intracellular Signaling Peptides and Proteins
- MEN1 protein, human
- Neoplasm Proteins
- Proto-Oncogene Proteins
- aryl hydrocarbon receptor-interacting protein
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Topics |
- Adenoma
(genetics, metabolism, pathology)
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Substitution
- Female
- Gene Deletion
- Genetic Association Studies
- Germ-Line Mutation
- Heterozygote
- Humans
- Hyperparathyroidism, Primary
(genetics, metabolism)
- Intracellular Signaling Peptides and Proteins
(genetics, metabolism)
- Italy
- Loss of Heterozygosity
- Male
- Middle Aged
- Mutation
- Neoplasm Proteins
(genetics, metabolism)
- Parathyroid Glands
(metabolism, pathology)
- Parathyroid Neoplasms
(genetics, metabolism, pathology)
- Proto-Oncogene Proteins
(genetics, metabolism)
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