5 research outputs found
Giant cell tumor of paralaryngeal soft tissues, extending to the laryngeal cartilage
Paralaryngeal mass with secondary extension to the thyroid cartilage involving confluent cysts, subjected to conservative surgical treatment with a diagnosis of giant cell tumor of soft tissues, a neoplasm morphologically similar but genetically unrelated to osseous giant cell tumors
The Brazilian TP53 mutation (R337H) and sarcomas.
Sarcomas represent less than 1% of all solid neoplasms in adults and over 20% in children. Their etiology is unclear, but genetic susceptibility plays an important role in this scenario. Sarcoma is central in Li-Fraumeni Syndrome (LFS), a familial predisposition cancer syndrome. In Brazil, the high prevalence of p.Arg337His mutations in the TP53 gene brings about a unique condition: a cluster of LFS. In the present work, we studied 502 sarcoma patients not selected by age or family history in an attempt to assess the impact of the so-called "Brazilian germline TP53 mutation" (p.Arg337His) on this tumor type. We found that 8% of patients are carriers, with leiomyosarcoma being the main histologic type of sarcoma, corresponding to 52.5% of the patients with the mutated TP53 gene. These findings emphasize the importance of genetic counseling and can better guide the management of sarcoma patients