An atypical case of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-associated renal cell carcinoma identified by next-generation sequencing

• Main Authors: Daniel R. Matson, M.D., Ph.D (Author), Molly A. Accola, Ph.D (Author), William M. Rehrauer, Ph.D (Author), Wei Huang, M.D (Author)
• Formato: Libro
• Publicado: Elsevier, 2018-03-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Germline mutations in the fumarate hydratase (FH) gene classically lead to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) syndrome. Patients with HLRCC typically exhibit multiple cutaneous and uterine leiomyomas at a young age. They also display a 20-30% lifetime risk for renal carcinomas,...