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Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary

K B Lauter1, A Arnold

  • 1Center for Molecular Medicine, Division of Endocrinology and Metabolism, University of Connecticut School of Medicine, Farmington, Connecticut, USA.

Kidney International
|February 22, 2008
PubMed

Insights

Inactivating mutations in CDKN1B do not appear to cause monoclonal parathyroid tumors in patients with refractory secondary/tertiary hyperparathyroidism. This suggests CDKN1B is not a primary driver of tumor development in these cases.

Area of Science:

  • Endocrinology
  • Oncology
  • Molecular Biology

Background:

  • Refractory secondary/tertiary hyperparathyroidism often involves monoclonal parathyroid tumors.
  • Inactivating mutations in CDKN1B (p27 cyclin-dependent kinase inhibitor) have been linked to hyperparathyroidism and MEN1-like syndromes.
  • Reduced CDKN1B expression is observed in parathyroid tumors from chronic kidney disease patients.

Purpose of the Study:

  • To investigate if inactivating mutations in CDKN1B drive monoclonal tumorigenesis in refractory secondary/tertiary hyperparathyroidism.
  • To analyze the coding region and splice sites of CDKN1B in parathyroid tumors.

Main Methods:

  • Sequencing of the entire coding region and splice sites of CDKN1B.
  • Analysis of 50 parathyroid tumors from 35 patients with refractory secondary/tertiary hyperparathyroidism.

Main Results:

  • No frameshift, nonsense, or other clearly inactivating mutations in CDKN1B were identified.
  • No evidence of homozygous deletion or loss of heterozygosity for CDKN1B was found.

Conclusions:

  • The absence of clonal inactivating mutations suggests CDKN1B does not function as a classical tumor-suppressor gene in these parathyroid tumors.
  • CDKN1B is unlikely to be a primary cause of monoclonal parathyroid tumorigenesis in refractory secondary/tertiary hyperparathyroidism.

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