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



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Abstract

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.

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About the authors

E. G Sviridov

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: cmfsurgery@yandex.ru
Moscow, Russia

R. V Deev

Human Stem Cells Institute; I.I. Mechnikov North-Western State medical University

Email: cmfsurgery@yandex.ru
Moscow, Russia; Saint-Petersburg, Russia

N. A Redko

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: cmfsurgery@yandex.ru
Moscow, Russia

A. Y Drobyshev

A.I. Evdokimov Moscow State University of Medicine and Dentistry

Email: cmfsurgery@yandex.ru
Moscow, Russia

A. I Kadykova

Forensic Bureau of the Kaliningrad Region

Email: cmfsurgery@yandex.ru
Kaliningrad, Russia

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