RESUMEN

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.

Asunto(s)

Predisposición Genética a la Enfermedad , Síndrome de Li-Fraumeni/genética , Sarcoma/genética , Proteína p53 Supresora de Tumor/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Brasil/epidemiología , Femenino , Efecto Fundador , Asesoramiento Genético , Mutación de Línea Germinal , Humanos , Síndrome de Li-Fraumeni/diagnóstico , Síndrome de Li-Fraumeni/epidemiología , Síndrome de Li-Fraumeni/patología , Masculino , Persona de Mediana Edad , Prevalencia , Sarcoma/diagnóstico , Sarcoma/epidemiología , Sarcoma/patología , Adulto Joven