Familial Cancer

, Volume 10, Issue 4, pp 695–699

Novel nonsense CDC73 mutations in Chinese patients with parathyroid tumors

  • Wai Kwan Siu
  • Chun Yiu Law
  • Ching Wan Lam
  • Chloe Miu Mak
  • Gary Wing Kin Wong
  • Andrew Yiu Yan Ho
  • Kwok Yip Ho
  • Ka Tai Loo
  • Sin Chuen Chiu
  • Louis Tsun Cheung Chow
  • Sui Fan Tong
  • Albert Yan Wo Chan
Article

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 mutations Chinese Hereditary hyperparathyroidism Hyperparathyroidism-jaw tumor syndrome Parathyroid tumor Parathyroid carcinoma 

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • Wai Kwan Siu
    • 1
    • 2
  • Chun Yiu Law
    • 1
  • Ching Wan Lam
    • 3
  • Chloe Miu Mak
    • 1
  • Gary Wing Kin Wong
    • 4
  • Andrew Yiu Yan Ho
    • 5
  • Kwok Yip Ho
    • 5
  • Ka Tai Loo
    • 2
  • Sin Chuen Chiu
    • 2
  • Louis Tsun Cheung Chow
    • 6
  • Sui Fan Tong
    • 3
  • Albert Yan Wo Chan
    • 1
  1. 1.Department of PathologyPrincess Margaret HospitalHong KongChina
  2. 2.Department of Clinical PathologyTuen Mun HospitalHong KongChina
  3. 3.Department of Pathology, Li Ka Shing Faculty of Medicine, Queen Mary HospitalThe University of Hong KongHong KongChina
  4. 4.Department of Paediatrics, Prince of Wales HospitalThe Chinese University of Hong KongHong KongChina
  5. 5.Department of Medicine and GeriatricsTuen Mun HospitalHong KongChina
  6. 6.Department of Anatomical and Cellular PathologyPrince of Wales HospitalHong KongChina

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