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Loss of parafibromin expression in a subset of parathyroid adenomas.
Endocr Relat Cancer. 2006 Jun; 13(2):509-23.ER

Abstract

Inactivation of the hyperparathyroidism-jaw tumour syndrome (HPT- JT) gene, HRPT2, was recently established as a genetic mechanism in the development of parathyroid tumours. Its encoded protein parafibromin has tumour-suppressor properties that play an important role in tumour development in the parathyroids, jaws and kidneys. Inactivating HRPT2 mutations are common in HPT- JT and parathyroid carcinomas, and have been described in a few cases of parathyroid adenomas with cystic features. In this study, 46 cases of cystic parathyroid adenomas previously investigated for HRPT2 mutations were characterized with regard to MEN1 gene mutations, cyclin D1 expression and parafibromin expression. In normal tissues and cell lines, parafibromin was ubiquitously expressed. Furthermore, parafibromin was detected as a dominating nuclear and a weaker cytoplasmic signal in transfected cell lines. In the three parathyroid tumours with inactivating HRPT2 mutations parafibromin expression was not detectable, and in one of two cases with aberrantly sized parafibromin the protein was delocalized. Both high and low cyclin D1 levels were found among HRPT2-mutated and -unmutated tumours, suggesting that these events are not mutually exclusive in parathyroid tumour development. The presented data suggest that in the majority of benign parathyroid tumours the expression of parafibromin remains unaltered, while the loss of parafibromin expression is strongly indicative of gene inactivation through mutation of the HRPT2 gene.

Authors+Show Affiliations

Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Solna, CMM L8: 01, SE-171 76 Stockholm, Sweden.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16728578

Citation

Juhlin, C, et al. "Loss of Parafibromin Expression in a Subset of Parathyroid Adenomas." Endocrine-related Cancer, vol. 13, no. 2, 2006, pp. 509-23.
Juhlin C, Larsson C, Yakoleva T, et al. Loss of parafibromin expression in a subset of parathyroid adenomas. Endocr Relat Cancer. 2006;13(2):509-23.
Juhlin, C., Larsson, C., Yakoleva, T., Leibiger, I., Leibiger, B., Alimov, A., Weber, G., Höög, A., & Villablanca, A. (2006). Loss of parafibromin expression in a subset of parathyroid adenomas. Endocrine-related Cancer, 13(2), 509-23.
Juhlin C, et al. Loss of Parafibromin Expression in a Subset of Parathyroid Adenomas. Endocr Relat Cancer. 2006;13(2):509-23. PubMed PMID: 16728578.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Loss of parafibromin expression in a subset of parathyroid adenomas. AU - Juhlin,C, AU - Larsson,C, AU - Yakoleva,T, AU - Leibiger,I, AU - Leibiger,B, AU - Alimov,A, AU - Weber,G, AU - Höög,A, AU - Villablanca,A, PY - 2006/5/27/pubmed PY - 2006/8/17/medline PY - 2006/5/27/entrez SP - 509 EP - 23 JF - Endocrine-related cancer JO - Endocr Relat Cancer VL - 13 IS - 2 N2 - Inactivation of the hyperparathyroidism-jaw tumour syndrome (HPT- JT) gene, HRPT2, was recently established as a genetic mechanism in the development of parathyroid tumours. Its encoded protein parafibromin has tumour-suppressor properties that play an important role in tumour development in the parathyroids, jaws and kidneys. Inactivating HRPT2 mutations are common in HPT- JT and parathyroid carcinomas, and have been described in a few cases of parathyroid adenomas with cystic features. In this study, 46 cases of cystic parathyroid adenomas previously investigated for HRPT2 mutations were characterized with regard to MEN1 gene mutations, cyclin D1 expression and parafibromin expression. In normal tissues and cell lines, parafibromin was ubiquitously expressed. Furthermore, parafibromin was detected as a dominating nuclear and a weaker cytoplasmic signal in transfected cell lines. In the three parathyroid tumours with inactivating HRPT2 mutations parafibromin expression was not detectable, and in one of two cases with aberrantly sized parafibromin the protein was delocalized. Both high and low cyclin D1 levels were found among HRPT2-mutated and -unmutated tumours, suggesting that these events are not mutually exclusive in parathyroid tumour development. The presented data suggest that in the majority of benign parathyroid tumours the expression of parafibromin remains unaltered, while the loss of parafibromin expression is strongly indicative of gene inactivation through mutation of the HRPT2 gene. SN - 1351-0088 UR - https://www.unboundmedicine.com/medline/citation/16728578/Loss_of_parafibromin_expression_in_a_subset_of_parathyroid_adenomas_ L2 - https://erc.bioscientifica.com/doi/10.1677/erc.1.01058 DB - PRIME DP - Unbound Medicine ER -