Characterization of a novel CDC73 gene mutation in a hyperparathyrodism-jaw tumor patient affected by parathyroid carcinoma in the absence of somatic loss of heterozygosity

Endocrine Journal
Simone CiuffiMaria Luisa Brandi

Abstract

Hyperparathyrodism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder. Loss of function of the cell division cycle protein 73 homolog (CDC73) gene is responsible for the syndrome. This gene encodes an ubiquitously expressed 531 amino acid protein, parafibromin, that acts as a tumor suppressor. Loss of heterozygosity (LOH) of the CDC73 locus in many HPT-JT associated parathyroid tumors from patients with germline mutation is in accordance with Knudson's "two-hit" model for hereditary cancer. A 41-year-old man with mandible ossifying fibroma suffered from severe hypercalcemia due to parathyroid carcinoma (PC). Genetic analysis was performed to evaluate germinal and somatic CDC73 gene mutation as well as real-time qRT-PCR to quantify CDC73 mRNA, miR-155 and miR-664 expression levels. Immunohistochemistry and Western blotting (WB) assay were carried out to evaluate parafibromin protein expression. A novel heterozygous nonsense mutation, c.191-192 delT, was identified in the CDC73 gene. No CDC73 LOH was found in PC tissue, nor any differences in expression levels for CDC73 gene, miR-155 and miR-664 between PC and parathyroid adenoma control tissues. On the contrary, both immunohistochemistry and WB assay showed an approxi...Continue Reading

References

Apr 1, 1971·Oral Surgery, Oral Medicine, and Oral Pathology·S Kennett, H Pollick
Apr 1, 1971·Proceedings of the National Academy of Sciences of the United States of America·A G Knudson
Dec 16, 2000·The New England Journal of Medicine·S J Marx
Apr 16, 2002·American Journal of Human Genetics·Maurine R HobbsCharles E Jackson
May 21, 2003·Journal of Internal Medicine·J D ChenB T Teh
Dec 21, 2004·Journal of Internal Medicine·K J BradleyR V Thakker
Jun 1, 2005·Molecular and Cellular Biology·Armelle YartWilhelm Krek
Jul 13, 2005·Cell·Carlo M Croce, George A Calin
Sep 23, 2006·Biochemical and Biophysical Research Communications·Chun ZhangBin Tean Teh
Nov 7, 2008·Proceedings of the National Academy of Sciences of the United States of America·Ling LinWilliam F Simonds
Nov 20, 2008·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Claudio MarcocciJohn P Bilezikian
Apr 17, 2009·Mechanisms of Development·Christian MosimannKonrad Basler
Jun 16, 2009·Journal of Internal Medicine·P J NeweyR V Thakker
Nov 4, 2009·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Marilena V Iorio, Carlo M Croce
Nov 19, 2010·Annals of Surgical Oncology·Reza RahbariElectron Kebebew
Jul 7, 2012·Journal of Molecular Endocrinology·Valentina VairaSabrina Corbetta
Jan 10, 2014·Endocrine Pathology·Anthony J Gill

❮ Previous
Next ❯

Citations

Dec 16, 2019·Virchows Archiv : an International Journal of Pathology·Arjen H G ClevenDaniel Baumhoer
Jan 14, 2020·International Journal of Endocrinology·Francesca Torresan, Maurizio Iacobone

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.