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Genome-wide and locus specific alterations in CDC73/HRPT2-mutated parathyroid tumors

Luqman Sulaiman1, Felix Haglund, Jamileh Hashemi

  • 1Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. Luqman.Sulaiman@ki.se

Plos One
|October 3, 2012
PubMed

Insights

Mutations in the HRPT2/CDC73 gene are linked to parathyroid tumors. CDC73-mutated parathyroid adenomas show a unique cytogenetic profile distinct from carcinomas and unselected adenomas.

Area of Science:

  • Endocrinology
  • Oncology
  • Molecular Genetics

Background:

  • Mutations in the HRPT2/CDC73 gene and parafibromin protein alterations are common in parathyroid carcinomas and some adenomas.
  • CDC73-mutated parathyroid tumors exhibit distinct gene expression profiles compared to wild-type cases.
  • The molecular cytogenetic profile of CDC73-mutated parathyroid tumors, particularly adenomas, remains largely uncharacterized.

Purpose of the Study:

  • To investigate the molecular cytogenetic profile of parathyroid tumors with HRPT2/CDC73 gene mutations.
  • To compare the genomic alterations and promoter methylation status in CDC73-mutated parathyroid carcinomas and adenomas.
  • To identify potential cytogenetic differences between CDC73-mutated adenomas, carcinomas, and unselected parathyroid tumors.

Main Methods:

  • Analysis of nine parathyroid tumors with confirmed CDC73 gene inactivating mutations (3 carcinomas, 1 atypical adenoma, 5 adenomas).
  • Utilized array-comparative genomic hybridization (a-CGH) and single nucleotide polymorphism (SNP) microarrays for copy number alterations and loss of heterozygosity.
  • Assessed CDC73 gene promoter methylation using bisulfite Pyrosequencing and quantitative PCR.

Main Results:

  • Parathyroid carcinomas showed copy number alterations consistent with previous studies.
  • CDC73-mutated adenomas did not exhibit the same deletion patterns as unselected adenomas.
  • Significant association (p=0.012) of gross chromosomal losses at 1p and 13 with parathyroid carcinomas compared to adenomas.
  • CDC73 gene copy number loss observed in three adenomas; carcinomas were diploid or had copy number gain.
  • No hypermethylation of the CDC73 gene promoter was detected.

Conclusions:

  • CDC73-mutated parathyroid adenomas possess a distinct cytogenetic profile separate from carcinomas and unselected adenomas.
  • Losses at chromosomal regions 1p and 13 are characteristic of CDC73-mutated carcinomas, suggesting their role in malignant progression.
  • Further validation in larger cohorts is necessary to confirm these findings and their clinical implications.

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