Genetic Analysis of Copy Number Variation in Large Chorangiomas

Meeli Sirotkina*, Konstantinos Douroudis, Magnus Westgren, Nikos Papadogiannakis

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Introduction: Chorangioma (CA) is the most common nontrophoblastic, vascular tumor-like lesion of the placenta with a reported incidence of 0.5% to 1% in all examined placentas. The underlying molecular mechanisms of CAs are still poorly elucidated, and a systematic investigation of the genetic background of CAs has not previously been done. Materials and Methods: Tissue biopsies from 8 large (>40 mm) histologically confirmed CAs and 8 unaffected matched placenta controls, along with standard control DNA samples were analyzed for large genomic deletions and duplications using array comparative genomic hybridization (array-CGH) method. Results: Array-CGH analysis revealed no rare or novel copy number variants in the CA samples compared with either standard control DNA or unaffected placenta DNA from the same individual. Discussion: In this study, a systematic genetic investigation of 8 large CAs failed to demonstrate any large-scale pathogenic genetic changes. This lack of association might support a nongenetic, nontumorous origin of these lesions; however, additional genetic studies focusing on smaller genomic alterations are required to fully assess any possible genetic contribution.

Original languageEnglish
Pages (from-to)236-242
Number of pages7
JournalPediatric and Developmental Pathology
Issue number3
Publication statusPublished - 1 May 2019
Externally publishedYes


  • array comparative genomic hybridization
  • chorangioma
  • copy number variants


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