ArticleCase reports in endocrinology2025
Hyperparathyroidism-Jaw Tumor Syndrome Associated to a CDC73 Gene Pathogenic VARIANT and a Nonossifying Desmoplastic Fibroma of the Mandible.
Article in Case reports in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- JNK acts as a molecular brake of the CDC73 positive feedback loop to modulate osteosarcoma malignant progression via UBR5.Oncogene · 2026Article
- A case report of desmoplastic fibroblastoma in a 2-year-old child.The Journal of international medical research · 2025Article
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6 authors.
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Abstract
Most cases of primary hyperparathyroidism (PHPT) are sporadic and are caused by parathyroid adenomas. Hereditary forms may occur in up to 10% of PHPT patients and are more frequent in younger patients. The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is characterized by PHPT in up to 95% of patients and ossifying fibromas in the jaw in 25%-50%. We describe the case of a 35-year-old male from Bangladesh referred to our hospital due to a voluminous right mandibular swelling: a rare nonossifying fibroma of the mandible was diagnosed. Due to functional impotence, a left shoulder magnetic resonance imaging (MRI) was performed with evidence of a pluri-lobulated cyst-like lesion in the proximal humeral area diagnosed as a brown tumor (BT). Subsequent tests highlighted hypercalcemia and hypophosphatemia with high PTH levels. A heterozygous CDC73 pathogenic variant c.96>A p.Trp32Ter was identified. To the best of our knowledge, this is the first reported case of HPT-JT syndrome related to a CDC73 pathogenic variant, associated to a BT of the arm and a rare nonossifying fibroma of the mandible.
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