CDC73 (Cell Division Cycle 73)

Poorly differentiated endometrial carcinomas in Black South African women show a distinct MAPK-linked activation pattern, along with transcriptional repression and extensive splicing changes. Aligning with findings in African Americans, this cohort highlights the unique aspects of isoform-resolved splicing and zinc-finger repression, suggesting that translational control, retinoid signaling, and RNA processing may be targets for biomarkers and therapy.

Given that our patient has only manifested with an atypical parafibromin-deficient parathyroid adenoma, we encounter a diagnostic dilemma on whether our patient has HPT-JT syndrome or familial isolated primary hyperparathyroidism, which is less commonly associated with CDC73 mutations. In cases suspicious for HPT-JT syndrome, it is important to arrange follow-up for recurrent PHPT and other manifestations of HPT-JT syndrome, as patients with familial isolated PHPT can be reclassified as having HPT-JT syndrome.

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.