Article
Medicine, General & Internal
James R. Kang, Jacob Burlew, Andrew Paulus, Joseph Kluesner
Summary: Hyperparathyroidism can be secondary to genetic disorders, with CDC73-related diseases being among the least common. This article reports on a 60-year-old male diagnosed with hyperparathyroidism jaw tumor syndrome, the oldest age to date for this diagnosis. The article also discusses the patient's presentation, pathophysiology, genetic significance, and surveillance criteria for HPT-JT.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Tina Nazerani Hooshmand, Birgit Pernthaler, Kinga Szurian, Mauro Pau, Reingard Maria Aigner
Summary: Hyperparathyroidism-jaw-tumor syndrome (HPT-JTS) is a rare autosomal dominant disorder characterized by the association of jaw ossifying fibroma with primary hyperparathyroidism. Due to its rarity and diverse manifestations, diagnosis can be challenging.
CLINICAL NUCLEAR MEDICINE
(2021)
Review
Medicine, General & Internal
Zirui Liu, Hao Yang, Hongyu Tan, Ruipeng Song, Yang Zhang, Liang Zhao
Summary: This article reports a case of cervical spine neural compression caused by parathyroid tumor. The patient presented with neck pain and arm radicular pain, accompanied by significantly elevated serum calcium levels. CT scan of the cervical spine showed an expansile lytic lesion in the C6 body, left pedicle, and left lamina of C5-6. After surgery, the patient developed nausea and vomiting, and serum calcium levels remained high. Based on serological examinations and histopathological results, BT with primary hyperparathyroidism due to the parathyroid tumor was considered. After surgery, serum calcium and PTH levels decreased, and CT showed good recovery.
Article
Medicine, General & Internal
Thomas O. Carpenter, Hillary R. Kelly, Jordan S. Sherwood, Zachary S. Peacock, Vania Nose
Summary: A 14-year-old girl presented with swelling of the jaw and hypercalcemia. A biopsy showed abundant giant cells in the mass. A diagnosis was made based on calcium levels and biopsy results.
NEW ENGLAND JOURNAL OF MEDICINE
(2021)
Article
Cell Biology
Monica De Luise, Luisa Iommarini, Lorena Marchio, Greta Tedesco, Camelia Alexandra Coada, Andrea Repaci, Daniela Turchetti, Maria Lucia Tardio, Nunzio Salfi, Uberto Pagotto, Ivana Kurelac, Anna Maria Porcelli, Giuseppe Gasparre
Summary: Somatic disruptive mitochondrial DNA mutations affecting the respiratory chain are typically counter-selected in human neoplasms, but are genetic hallmarks of indolent oncocytomas. The correlation between mtDNA mutation type/load and tumor clinical outcome lacks confirmation through functional studies. Familial oncocytomas are rare and offer insight into oncocytic transformation and the role of germline/somatic mtDNA mutations in cancer.
Editorial Material
Medicine, General & Internal
Samanta Buchholzer, Tommaso Lombardi
Summary: Giant cell granulomas are rare benign tumor-like lesions that mainly occur in the oro-facial area. They can be classified into central and peripheral types, but they are histologically identical. The prognosis and treatment of the disease should be closely related to hyperparathyroidism.
Article
Medicine, General & Internal
Hye Ryeon Choi, Sun Hyung Choi, Namki Hong, Yumie Rhee, Jin Kyong Kim, Cho Rok Lee, Sang-Wook Kang, Jandee Lee, Jong Ju Jeong, Kee-Hyun Nam, Woong Youn Chung
Summary: Normocalcemic primary hyperparathyroidism (NPHPT) is a heterogeneous disease entity of primary hyperparathyroidism, characterized by high rates of multi-gland disease and mild biochemical abnormalities but symptomatic presentation. Intraoperative PTH monitoring may improve surgical outcomes, and short-term outcomes after surgery are similar to those of typical primary hyperparathyroidism (TPHPT).
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Article
Genetics & Heredity
Na Wang, Youmin Zheng, Lingzi Zhang, Xiong Tian, Yicheng Fang, Ming Qi, Juping Du, Shuaishuai Chen, Shiyong Chen, Jun Li, Bo Shen, Lizhen Wang
Summary: A compound heterozygous pathogenic variant of the COQ6 gene was identified as the cause of severe COQ10D6 in two Chinese siblings. These cases expand the genotypic spectrum of COQ10D6 and highlight the heterogeneity and severity of clinical features associated with COQ6 mutations. Early testing for COQ6 mutations is beneficial for disease diagnosis, therapeutic interventions, and disease prevention in future generations for patients with clinical manifestations suggestive of COQ10D6.
FRONTIERS IN GENETICS
(2022)
Review
Cell Biology
Hua-chuan Zheng, Hang Xue, Cong-yu Zhang
Summary: This review discusses the role of parafibromin protein, encoded by the CDC73 gene, in various diseases and malignancies. Parafibromin is involved in transcriptional regulation in the nucleus and signal transduction in the cytosol, and may serve as a potential target for the treatment of malignant tumors.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Endocrinology & Metabolism
Federica Saponaro, Elena Pardi, Laura Mazoni, Simona Borsari, Liborio Torregrossa, Matteo Apicella, Gianluca Frustaci, Gabriele Materazzi, Paolo Miccoli, Fulvio Basolo, Claudio Marcocci, Filomena Cetani
Summary: The study retrospectively evaluated the clinical and biochemical profiles of patients with atypical parathyroid adenomas (APAs) and found that the majority of patients, despite a moderate/severe phenotype, have a good prognosis. Patients with germline CDC73 gene mutations had a higher rate of persistent/recurrent disease.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Biology
Jake Leyhr, Laura Waldmann, Beata Filipek-Gorniok, Hanqing Zhang, Amin Allalou, Tatjana Haitina
Summary: This study identifies a conserved Nkx3.2 enhancer element in gnathostomes and demonstrates its activity in the jaw joint of zebrafish. The enhancer shows functional conservation in different gnathostomes, indicating its importance in jaw development. Deletion of the enhancer leads to jaw joint deformations and fusion in zebrafish.
Article
Endocrinology & Metabolism
Sarah Vincze, Nicholas Peters, Chia-Ling Kuo, Taylor C. Brown, Reju Korah, Timothy D. Murtha, Justin Bellizzi, Aaliyah Riccardi, Kourosh Parham, Tobias Carling, Jessica Costa-Guda, Andrew Arnold
Summary: GCM2 variants are found in a significant number of patients with primary hyperparathyroidism, but their penetrance is very low, indicating a low risk of developing the disease for individuals carrying these variants. Further research is needed to assess the clinical importance of detecting these GCM2 variants.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Rana Tora, James Welch, Jian Sun, Sunita K. Agarwal, Debra A. Bell, Maria Merino, Lee S. Weinstein, William F. Simonds, Smita Jha
Summary: This study retrospectively characterized HPT-JT syndrome and found an increased risk of parathyroid cancer associated with the disease. The study also identified a correlation between HPT-JT and uterine tumors and kidney tumors, and investigated the mutations of the CDC73 gene.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Review
Otorhinolaryngology
Jesus E. Medina, Gregory W. Randolph, Peter Angelos, Mark E. Zafereo, Ralph P. Tufano, Luiz P. Kowalski, Fabio L. M. Montenegro, Randall P. Owen, Avi Khafif, Carlos Suarez, Ashok R. Shaha, Juan P. Rodrigo, Greg A. Krempl, Alessandra Rinaldo, Carl E. Silver, Alfio Ferlito
Summary: Patients with primary hyperparathyroidism (PHPT) exhibit genetic, symptomatic, and biochemical heterogeneity, making it difficult to distinguish between familial and sporadic PHPT, while new symptoms and disease presentations are emerging.
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK
(2021)
Article
Oncology
Sara Storvall, Eeva Ryhanen, Auli Karhu, Camilla Schalin-Jantti
Summary: Recently, rare PRUNE2 mutations located in exons 3, 8, 9, and 12 were found in patients with parathyroid tumors in the genetically homogenous Finnish population. These mutations were associated with parathyroid carcinoma, atypical parathyroid tumors, and adenomas. While further research is needed, PRUNE2 mutations could be involved in the pathogenesis of parathyroid tumors.
