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)
Article
Endocrinology & Metabolism
Lauriane Le Collen, Sara Barraud, Antoine Braconnier, Lucie Coppin, Dominique Zachar, Camille Boulagnon, Sophie Deguelte, Pierre Francois Souchon, Marta Spodenkiewicz, Celine Poirsier, Sebastien Aubert, Marie Francoise Odou, Brigitte Delemer
Summary: A large 4-generation family with Hyperparathyroidism-Jaw Tumor syndrome (HPT-JT) associated with a rare deletion of exon 3 of the CDC73 gene was described in this study. The family members showed a range of symptoms including hypercalcemia, kidney disease related to hypercalcemia, and atypical parathyroid adenomas without carcinomas. The penetrance of the deletion was estimated at 50% at 40 years, and the onset and intensity of HPT were found to be unpredictable. Additional somatic mutations in the parathyroid tumors could contribute to phenotypical variations.
Article
Biochemistry & Molecular Biology
Su Yeon Kim, Ji-young Lee, Yun-jung Cho, Kwan Hoon Jo, Eun Sook Kim, Je Ho Han, Kwang-Hyun Baek, Sung-dae Moon
Summary: This study found that USP37 is a specific deubiquitinating enzyme for CDC73, and the two proteins interact through specific domains, suggesting that USP37 plays an important role in the stability of CDC73 in HPT-JT syndrome.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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)
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)
Review
Medicine, General & Internal
Michal Popow, Monika Kaszczewska, Magdalena Goralska, Piotr Kaszczewski, Agata Skwarek-Szewczyk, Witold Chudzinski, Krystian Jazdzewski, Monika Kolanowska, Magdalena Bogdanska, Aleksandra Starzynska-Kubicka, Zbigniew Galazka
Summary: This study presents 4 cases of patients with rare diseases, in whom genetic mutation of the CDC73 gene and clinical presentation coexist in an unusual setting that has not yet been described. The study found that patients with hyperparathyroidism and coexistence of brown tumors or jaw tumors might have decreased expression of parafibromin, which might be caused by CDC73 mutation and suggest a genetic predisposition.
AMERICAN JOURNAL OF CASE REPORTS
(2022)
Review
Endocrinology & Metabolism
Jenny E. Blau, William F. Simonds
Summary: The regulation of serum calcium levels in humans involves the endocrine action of the parathyroid glands, vitamin D, and various target cells and tissues. Primary hyperparathyroidism is a disorder of mineral metabolism typically associated with elevated serum calcium and can be caused by uncontrolled release of parathyroid hormone from abnormal glands, sometimes linked to genetic mutations. Further research into familial HPT lacking known predisposition genes holds promise for the discovery of novel genes related to parathyroid tumor development.
FRONTIERS IN ENDOCRINOLOGY
(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.
Review
Genetics & Heredity
Guilhaume Garrigues, Marie Batisse-Lignier, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Antony Kelly, Mathilde Gay-Bellile, Sandrine Viala, Yannick Bidet, Yves-Jean Bignon, Mathias Cavaille
Summary: This article reports two atypical cases of HPT-JT with variable expressivity in the same family. Genetic testing revealed a pathogenic germline variation in the CDC73 gene in both the patient and the patient's mother, confirming the importance of using an extended gene panel for the diagnosis of familial primary hyperparathyroidism.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
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
Endocrinology & Metabolism
Jessica Costa-Guda, Chetanya Pandya, Maya Strahl, Patricia Taik, Robert Sebra, Rong Chen, Andrew Uzilov, Andrew Arnold
Summary: The study found that loss of the CDC73/parafibromin tumor suppressor gene may play a role in the pathogenesis of a subset of ossifying fibromas, indicating a potential new therapeutic target for this rare tumor.
JOURNAL OF THE ENDOCRINE SOCIETY
(2021)
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
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
Oncology
Travis D. Weaver, Mohamed K. M. Shakir, Thanh D. Hoang
Summary: The case study presented a young patient with primary hyperparathyroidism and a CDC73 mutation. The patient was diagnosed with hypercalcemia post-surgery and underwent successful treatment. Genetic testing revealed a mutation of the CDC73 gene, highlighting the importance of genetic screening in young patients with unexplained hyperparathyroidism.
CASE REPORTS IN ONCOLOGY
(2021)
Article
Endocrinology & Metabolism
Yi Yang, An Song, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang, Ya Hu
Summary: This study confirmed a novel 130 kb long-range deletion spanning CDC73 in a female PC patient and found similar results in her family members, which were associated with familial hyperparathyroidism and PC.