Parafibromin-deficient (HPT-JT type, CDC73-mutated) parathyroid tumour: A case report

We present a case of parafibromin deficient (HPT-JT type, CDC73-mutated) parathyroid tumour (PDPT) occurring in 16-year-old girl. PDPT was recently proposed as distinct class neoplasms that show deficiency without meeting the invasive criteria required to diagnose carcinoma. Our histological examination revealed characteristic morphological features PDPT, including thick capsule, sheet-like growth, arborising vasculature, eosinophilic cytoplasm, large nuclei, coarse chromatin and perinuclear halos. No capsular or vascular invasion identified. Immunohistochemistry showed loss expression, which indicates mutation encoding gene CDC73. is strongly associated with hyperparathyroidism-jaw syndrome (HPT-JT) caused by germline CDC73 mutations. HPT-JT portends very high risk recurrence metachronous disease other glands, together life-time A diagnosis should trigger genetic counselling testing. Interestingly, our patient had no significant family history there were mutations detected sequencing MPLA analysis. nevertheless carries small metastasis. recommended for close follow-up wide local excision if occurs. Reference 1. Gill AJ, Lim G, Cheung VKY, et al. Parafibromin-deficient mutated) tumours demonstrate distinctive morphologic features. Am J Surg Pathol 2019; 43: 35–46.