Familial Cancer

, Volume 10, Issue 4, pp 695–699

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

Authors

  • Wai Kwan Siu
    • Department of PathologyPrincess Margaret Hospital
    • Department of Clinical PathologyTuen Mun Hospital
  • Chun Yiu Law
    • Department of PathologyPrincess Margaret Hospital
    • Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary HospitalThe University of Hong Kong
  • Chloe Miu Mak
    • Department of PathologyPrincess Margaret Hospital
  • Gary Wing Kin Wong
    • Department of Paediatrics, Prince of Wales HospitalThe Chinese University of Hong Kong
  • Andrew Yiu Yan Ho
    • Department of Medicine and GeriatricsTuen Mun Hospital
  • Kwok Yip Ho
    • Department of Medicine and GeriatricsTuen Mun Hospital
  • Ka Tai Loo
    • Department of Clinical PathologyTuen Mun Hospital
  • Sin Chuen Chiu
    • Department of Clinical PathologyTuen Mun Hospital
  • Louis Tsun Cheung Chow
    • Department of Anatomical and Cellular PathologyPrince of Wales Hospital
  • Sui Fan Tong
    • Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary HospitalThe University of Hong Kong
  • Albert Yan Wo Chan
    • Department of PathologyPrincess Margaret Hospital
Article

DOI: 10.1007/s10689-011-9466-6

Cite this article as:
Siu, W.K., Law, C.Y., Lam, C.W. et al. Familial Cancer (2011) 10: 695. doi:10.1007/s10689-011-9466-6

Abstract

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease characterized by the occurrences of parathyroid tumors and ossifying fibroma of maxilla/mandible. It is caused by mutations in CDC73 gene and mutation carriers are at increased risk of parathyroid carcinoma. Hyperparathyroidism could be the sole manifestation. We reported two Chinese patients having parathyroid neoplasm with equivocal malignant potential and parathyroid carcinoma respectively with both germline and somatic CDC73 mutations detected. Both of them presented with severe hypercalcemia and primary hyperparathyroidism with no other HPT-JT associated tumors and negative family history. We identified one novel germline mutation CDC73 NM_024529.4: c.1475G > A; NP_078805.3: p.Trp492X and one novel somatic mutation CDC73 NM_024529.4: c.142G > T; NP_078805.3: p.Glu48X. The other germline mutation CDC73 NM_024529.4: c.226C > T; NP_078805.3: p.Arg76X and somatic mutation CDC73 NM_024529.4: c.85delG; NP_078805.3: p.Glu29SerfsX8 were previously reported. This is the first report of CDC73 mutations in the Chinese population. Genetic analysis is reliable to confirm the underlying hereditary basis of hyperparathyroidism. By identification of mutations, the patient and the family members could benefit from regular surveillance for early detection of tumors.

Keywords

CDC73 mutationsChineseHereditary hyperparathyroidismHyperparathyroidism-jaw tumor syndromeParathyroid tumorParathyroid carcinoma

Copyright information

© Springer Science+Business Media B.V. 2011