Head and Neck Pathology

, Volume 12, Issue 1, pp 136–144 | Cite as

Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations

  • Prokopios P. Argyris
  • Rajaram Gopalakrishnan
  • Ying Hu
  • Ernst J. Reichenberger
  • Ioannis G. Koutlas
Case Report
  • 172 Downloads

Abstract

Cherubism is a rare autosomal dominant condition affecting the jaws and caused by mutations in the gene encoding for the adapter protein SH3BP2 that maps to chromosome 4p16.3. Cherubism is characterized by symmetrically developing bone lesions in the maxilla and mandible. The lesions have been radiographically and histopathologically well-described. Here, we present a family with cherubism with two of its members featuring odontogenic tumorous proliferations in association with persistent central giant cell lesions (CGCL). Specifically, the proband, a 25-year-old male, developed a radiolucent lesion characterized histologically by central odontogenic fibroma-like proliferation in association with a CGCL component, while his mother, at age 57, was diagnosed with primary intraosseous odontogenic carcinoma with areas of benign fibro-osseous lesions. In both patients the lesions occurred in the anterior mandible and presented with clinical enlargement. The son underwent incisional biopsy and did not have additional treatment. His mother underwent extensive mandibulectomy due to widespread tumor. The son has two affected children with classic cherubism while a third child at age 5, had not shown any features of the disease. Mutation analysis of three affected members resulted in the identification of a heterozygous mutation in SH3BP2 (c.1244G>C; p.Arg415Pro). To the best of our knowledge, association of cherubism with odontogenic neoplastic lesions has hitherto not been reported in the literature, thus suggesting a relationship between cherubism with disturbed odontogenesis.

Keywords

Cherubism SH3BP2 Benign giant cell lesion Odontogenic fibroma Hybrid COF/CGCL Odontogenic carcinoma Intraosseous squamous cell carcinoma Squamous odontogenic tumor 

Notes

Acknowledgements

The authors are grateful to Mr. Brian Dunnette of the University of Minnesota for his assistance with the illustrations.

Compliance with Ethical Standards

Conflict of interest

The authors declare no conflict of interest.

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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Prokopios P. Argyris
    • 1
  • Rajaram Gopalakrishnan
    • 1
  • Ying Hu
    • 2
  • Ernst J. Reichenberger
    • 2
  • Ioannis G. Koutlas
    • 1
  1. 1.Division of Oral and Maxillofacial Pathology, School of DentistryUniversity of MinnesotaMinneapolisUSA
  2. 2.Department of Reconstructive SciencesUniversity of ConnecticutFarmingtonUSA

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