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

Prokopios Argyris, Rajaram Gopalakrishnan, Ying Hu, Ernst J. Reichenberger, Ioannis G Koutlas

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)136-144
Number of pages9
JournalHead and Neck Pathology
Volume12
Issue number1
DOIs
StatePublished - Mar 1 2018

Fingerprint

Cherubism
Giant Cells
Nuclear Family
Mandible
Mutation
Odontogenesis
Mothers
Fibroma
Maxilla
Cellular Structures
Jaw
Chromosomes
Carcinoma
Biopsy
Bone and Bones

Keywords

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

PubMed: MeSH publication types

  • Case Reports
  • Journal Article

Cite this

Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. / Argyris, Prokopios; Gopalakrishnan, Rajaram; Hu, Ying; Reichenberger, Ernst J.; Koutlas, Ioannis G.

In: Head and Neck Pathology, Vol. 12, No. 1, 01.03.2018, p. 136-144.

Research output: Contribution to journalArticle

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