Previously unreported deletion of CDC73 involving exons 1–13 was detected in a patient with recurrent parathyroid carcinoma

Abstract

Parathyroid carcinoma (PC) is a rare malignancy, presenting sporadically or as part of a genetic syndrome. Diagnosis of PC includes the histopathological diagnosis based on capsular, perineural, or vascular invasion or metastasis. High suspicion for malignancy includes hypercalcaemia greater than 14 mg/dL, extremely high serum parathyroid hormone (PTH) levels, as well as large masses. Given the rarity of PC, it is challenging to design clinical trials for newer therapy. Currently, complete initial surgical excision of the tumour in high-risk patients offers the best chance of cure and prolonged disease-free survival in PC. In the absence of definite data, non-surgical therapies such as radiation and chemotherapy are not routinely recommended. For early detection of recurrence; long-term clinical follow-up with interval measurements of serum calcium and PTH is recommended. Localising studies of PC are helpful. Early screening for CDC73 mutation and multidisciplinary treatment by an endocrine/ENT/surgical oncology team is recommended.

A Novel Long-Range Deletion Spanning CDC73 and Upper-Stream Genes Discovered in a Kindred of Familial Primary Hyperparathyroidism

“…Another study also discovered similar deletion of exon 1-17 in one PC patient [31]. Mahajan reported a novel deletion of CDC73 involving exon 1-13 in a recurrent PC patient [32]. Muscarella's investigation of one HPT-JT family of 9 people revealed a deletion of exon 1-10 of CDC73 among 7 of them [33].…”