Human pathology

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hyperparathyroidism-jaw tumor syndrome

HPT-JT syndrome

Synopsis

- primary hyperparathyroidism
- ossifying fibromas of the maxilla and mandible (30 %)
- renal cysts
- solid tumors
- parathyroid carcinoma

Etiology

- mutations in the HRPT2 (1q25-q32) encoding parafibromin

References

- Tan MH, Teh BT. Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. Curr Mol Med. 2004 Dec;4(8):895-7. PMID: 15579037