Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

ABSTRACT:

Background

Malignant transformation of fibrous dysplasia (FD) is very rare and little is known about this occurrence.

Methods

We present the detailed clinical course of three cases of osteosarcoma arising from FD of the jaws and explore the genetic aberrations by Sanger sequencing, whole-exome sequencing (WES) and immunohistochemistry (IHC). A literature review of important topics related to this occurrence was also performed.

Results

It was observed that patients with secondary sarcoma from FD showed a wide range of ages, with most during the third decade. Female and males were equally affected. Craniofacial bones and femurs were the most affected sites. High-risk factors for this occurrence included polyostotic FD, McCune-Albright syndrome and excess growth hormone.

SUBMITTER: Shi R 

PROVIDER: S-EPMC8801143 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature