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4. Influence of Vitamin D Deficiency on Cyclin D1-Induced Parathyroid Tumorigenesis

Author

Costa-Guda, Jessica, primary, Corrado, Kristin, additional, Bellizzi, Justin, additional, Saria, Elizabeth, additional, Saucier, Kirsten, additional, Guemes-Aragon, Miriam, additional, Kakar, Guntas, additional, Rose, Madison, additional, Pascal, Melanie, additional, Alander, Cynthia, additional, Mallya, Sanjay M, additional, and Arnold, Andrew, additional

Published
2023
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8. GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism

Author

Vincze, Sarah, primary, Peters, Nicholas V, additional, Kuo, Chia-Ling, additional, Brown, Taylor C, additional, Korah, Reju, additional, Murtha, Timothy D, additional, Bellizzi, Justin, additional, Riccardi, Aaliyah, additional, Parham, Kourosh, additional, Carling, Tobias, additional, Costa-Guda, Jessica, additional, and Arnold, Andrew, additional

Published
2021
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10. GCM2 Variants in Familial and Multiglandular Primary Hyperparathyroidism.

Author

Vincze, Sarah, Peters, Nicholas V., Chia-Ling Kuo, Brown, Taylor C., Korah, Reju, Murtha, Timothy D., Bellizzi, Justin, Riccardi, Aaliyah, Parham, Kourosh, Carling, Tobias, Costa-Guda, Jessica, and Arnold, Andrew

Subjects
HYPERPARATHYROIDISM, POLYMERASE chain reaction
Abstract

Context: Multiglandular and familial parathyroid disease constitute important fractions of primary hyperparathyroidism (PHPT). Germline missense variants of GCM2, a regulator of parathyroid development, were observed in familial isolated hyperparathyroidism and sporadic PHPT. However, as these previously reported GCM2 variants occur at relatively high frequencies in the population, understanding their potential clinical utility will require both additional penetrance data and functional evidence relevant to tumorigenicity. Objective: Determine the frequency of GCM2 variants of interest among patients with sporadic multigland or familial parathyroid disease and assess their penetrance. Design and Patients: DNA-encoding PHPT-associated GCM2 germline variants were polymerase chain reaction–amplified and sequenced from 107 patients with either sporadic multigland or suspected/confirmed familial parathyroid tumors. Results: GCM2 variants were observed in 9 of 107 cases (8.4%): Y282D in 4 patients (6.3%) with sporadic multigland disease; Y394S in 2 patients (11.1%) with familial PHPT and 3 (4.8%) with sporadic multigland disease. Compared with the general population, Y282D was enriched 5.9-fold in multigland disease, but its penetrance was very low (0.02%). Y394S was enriched 79-fold in sporadic multigland disease and 93-fold in familial PHPT, but its penetrance was low (1.33% and 1.04%, respectively). Conclusions: Observed in vitro–activating GCM2 variant alleles are significantly over-represented in PHPT patients with multiglandular or familial disease compared to the general population, yet penetrance values are very low; that is, most individuals with these variants in the population have a very low risk of developing PHPT. The potential clinical utility of detecting these GCM2 variants requires further investigation, including assessing their possible role as pathogenic/low-penetrance alleles. [ABSTRACT FROM AUTHOR]

Published
2022
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12. PIK3CA Mutational Analysis of Parathyroid Adenomas

Author

Riccardi, Aaliyah, primary, Lemos, Carolina, additional, Ramos, Ryan, additional, Bellizzi, Justin, additional, Parham, Kourosh, additional, Brown, Taylor C., additional, Korah, Reju, additional, Carling, Tobias, additional, Costa‐Guda, Jessica, additional, and Arnold, Andrew, additional

Published
2020
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14. Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas

Author

Riccardi, Aaliyah, primary, Aspir, Tori, additional, Shen, Lilia, additional, Kuo, Chia-Ling, additional, Brown, Taylor C, additional, Korah, Reju, additional, Murtha, Timothy D, additional, Bellizzi, Justin, additional, Parham, Kourosh, additional, Carling, Tobias, additional, Costa-Guda, Jessica, additional, and Arnold, Andrew, additional

Published
2019
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15. Molecular analysis of cyclin D1 modulators PRKNand FBX4as candidate tumor suppressors in sporadic parathyroid adenomas

Author

Brewer, Kelly, Nip, Isabel, Bellizzi, Justin, Costa-Guda, Jessica, and Arnold, Andrew

Abstract

Primary hyperparathyroidism is most often caused by a sporadic single-gland parathyroid adenoma (PTA), a tumor type for which cyclin D1 is the only known and experimentally validated oncoprotein. However, the molecular origins of its frequent overexpression have remained mostly elusive. In this study, we explored a potential tumorigenic mechanism that could increase cyclin D1 stability through a defect in molecules responsible for its degradation.We examined two tumor suppressor genes known to modulate cyclin D1 ubiquitination, PRKNand FBXO4(FBX4), for evidence of classic two-hit tumor suppressor inactivation within a cohort of 82 PTA cases. We examined the cohort for intragenic inactivating and splice site mutations by Sanger sequencing and for locus-associated loss of heterozygosity (LOH) by microsatellite analysis.We identified no evidence of bi-allelic tumor suppressor inactivation of PRKNor FBXO4via inactivating mutation or splice site perturbation, neither in combination with nor independent of LOH. Among the 82 cases, we encountered previously documented benign single nucleotide polymorphisms (SNPs) in 35 tumors at frequencies similar to those reported in the germlines of the general population. Eight cases exhibited intragenic LOH at the PRKNlocus, in some cases extending to cover at least an additional 1.7 Mb of chromosome 6q25-26. FBXO4was not affected by LOH.The absence of evidence for specific bi-allelic inactivation in PRKNand FBXO4in this sizeable cohort suggests that these genes only rarely, if ever, serve as classic driver tumor suppressors responsible for the growth of PTAs.

Published
2021
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16. Genomic profiling reveals mutational landscape in parathyroid carcinomas

Author

Pandya, Chetanya, primary, Uzilov, Andrew V., additional, Bellizzi, Justin, additional, Lau, Chun Yee, additional, Moe, Aye S., additional, Strahl, Maya, additional, Hamou, Wissam, additional, Newman, Leah C., additional, Fink, Marc Y., additional, Antipin, Yevgeniy, additional, Yu, Willie, additional, Stevenson, Mark, additional, Cavaco, Branca M., additional, Teh, Bin T., additional, Thakker, Rajesh V., additional, Morreau, Hans, additional, Schadt, Eric E., additional, Sebra, Robert, additional, Li, Shuyu D., additional, Arnold, Andrew, additional, and Chen, Rong, additional

Published
2017
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20. Visualizing Levels of Osteoblast Differentiation by a Two-Color Promoter-GFP Strategy: Type I Collagen-GFPcyan and Osteocalcin-GFPtpz

Author

Bilić-Čurčić, Ines, Kronenberg, Mark, Jiang, Xi, Bellizzi, Justin, Gardiner, Edith, and Rowe, David

Subjects
GFP, osteocalcin promoter, osteoblast differentiation, type I collagen promoter, primary osteoblast culture, bone histology
Abstract

For understanding cellular and molecular mechanisms of osteoblast differentiation it is necessary to develop visual markers that reflect the progression of cells to full osteoblast differentiation in cell culture that should be readily transferable to in vivo models of bone formation. The purpose of this study is to show the feasibility of generating transgenic mice containing two promoter constructs driving distinguishable GFP isomers at different stages of osteoblast differentiation to identify cells at different levels of development both in cell culture and intact mouse bone. A 3.9 kb fragment of the human osteocalcin (hOC) promoter and a 3.6 kb fragment of the collagen promoter (Col3.6) linked with visually distinguishable GFP’ s, topaz and cyan, were used for multiplex analysis of osteoblast lineage progression. Transgenic mice for each construct, identified as pOBCol3.6GFPcyan and hOCGFPtpz, were individually characterized and then crossed. Temporal and spatial expression of both transgenes was analyzed in vitro and in vivo. In marrow stromal and neonatal calvarial cell cultures of crossed transgenic lines the pOBCol3.6GFPcyan low intensity positive cells appeared on day 7 and its expression continued as high intensity GFP positive cells that contributed to the formation of nodules. The hOCGFPtpz transgene expressing cells appeared at day 15 in nodules undergoing mineralization. In the mineralizing nodule we observed the activation of hOCGFPtpz in cells that were originally only cyan positive. The intensity of tpz in double GFP positive cells gradually increased as a concomitant decrease in cyan expression was detected. In the histological analysis, the double transgenics illustrate a spectrum of osteoblast differentiation. Cells expressing cyan are present in the primary spongiosa and extend a short distance along the cortical bone. Double expressing cells can be found in trabeculae in the secondary spongiosa and lower cortex and along the surface of cortical bone. The majority of cells on the surface of cortical and trabecular bone and osteocytes are only tpz positive. Thus a spectrum of osteoblast differentiation can be observed in bone nodules in primary culture and within bone. Because genetic disorders of bone may ultimately exert their effect by interfering with the orderly progression of progenitor to fully mature bone cell, this approach may be useful to identify the cellular consequence of a gene mutation as progenitors progress through stages of differentiation in cell culture and intact bone.

Published
2004

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