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Clinical case of mandibular fibro-osseous lesions with giant multinuclear cells: molecular-genetic differential diagnostic analysis

Genes & Cells: Vol XIV, №4, 2019, pp: 77-81 DOI: 10.23868/201912036

Authors

E.G. Sviridov, R.V. Deev, N.A. Redko, A.Y. Drobyshev, A.I. Kadykova

The giant cell tumors of maxillofacial bones include several barely differentiable diseases with diverse prognoses. A case of a giant cell tumor in an 18-year-old man is described. Clinical, instrumental and laboratory examination did not allow to establish an accurate diagnosis. Molecular genetic test by New generation sequencing (NGS) of tumor tissues and blood identified mutation p. 1424 C> A; p.Pro475His in the SH3BP2 gene, previously described in patients with the so-called cherubism, that determined the tactic of treatment. Carrying out an oncogenetic study allows the differential diagnosis of such morphologically similar conditions with a giant cell component as a multiorgan form of fibrous dysplasia, reparative granulomas, Noonan syndrome, Sturge-Weber-Crabbe syndrome, juvenile ossifying fibroma.

Keywords: cherubism, SH3BP2, new generation sequencing, fibro-osseous lesions, giant cell tumor, ontogenetics.

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