CDC73 (Cell Division Cycle 73)

Elevated expression of CPSF73 is associated with aggressive disease in prostate cancer patients, and combining JTE-607 with adavosertib synergistically reduced prostate cancer cell survival. Our findings suggest that transcription termination helps prevent toxic conflicts between transcription and replication following increased replication initiation caused by WEE1 inhibition.

Initial management included aggressive intravenous hydration and administration of denosumab to control the symptomatic hypercalcemia, which resulted in improved calcium levels and renal function. Further evaluation with imaging, including parathyroid ultrasound and Technetium-99m (Tc-99m) sestamibi scintigraphy, was consistent with a right parathyroid adenoma. The patient subsequently underwent parathyroidectomy, and histological analysis confirmed the diagnosis of parathyroid carcinoma.

To our knowledge, this is the first reported case utilizing [18F]Fluorocholine PET/CT for the evaluation and management of HPT-JT syndrome with active presence of a maxillary cemento-ossifying fibroma. Given its superior sensitivity compared to conventional imaging, [18F]Fluorocholine PET/CT provided critical information for surgical planning and it might be a useful diagnostic tool for long-term disease monitoring. This case highlights the potential role of [18F]Fluorocholine PET/CT in detecting both parathyroid and jaw manifestations of HPT-JT syndrome, emphasizing the need for further research into its application in hereditary endocrine disorders.

The mutations were statistically associated with age, higher serum calcium levels, elevated ALP, and greater skeletal involvement. For optimal management, PHPT patients with high-risk features should be subjected to customised genetic testing in resource-limited settings.

This study established a robust six-gene prognostic model related to SUN modifications and anti-PD-1 therapy in GBM. The model demonstrates strong predictive ability and correlates with clinically relevant parameters, highlighting its potential utility for survival prediction and guiding therapeutic management decisions in GBM patients.

Postoperatively, the patient developed hungry bone syndrome, requiring calcium and vitamin D supplementation. Genetic testing revealed a CDC73 mutation, confirming the genetic basis of the disease.

This case highlights the diagnostic challenges of distinguishing atypical parathyroid tumors from carcinomas, particularly in pediatric patients. This underscores the importance of genetic testing in young patients with PHPT and unusual histology.

However, discontinuation of denosumab and cinacalcet due to limited access led to a relapse of severe hypercalcemia and disease progression, necessitating the cessation of lenvatinib and transition to palliative care. This case underscores the diagnostic and therapeutic challenges of PC, highlights the potential role of targeted therapies like lenvatinib in advanced disease, and emphasizes the critical importance of sustained access to essential treatments.

Conservative management with hydration and dietary calcium restriction may be a safe alternative in selected pregnant patients with stable, mild-to-moderate hypercalcemia. Genetic evaluation is critical in young patients with PHPT and relevant family history, as hereditary syndromes such as HPT-JT syndrome require long-term multidisciplinary surveillance.

Six family members presented with a heterozygous mutation in the CDC73 gene, and one patient had a copy number variation of undetermined clinical significance in the same gene. In addition, we review the particularities of each condition associated with PHPT, indications for genetic evaluation, and recommendations for follow-up and treatment.

The main reasons for the inconsistency were attributed to the pathological type and sequencing method. More inconsistent results were detected in the PC group and the non-NGS group.