Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

Abstract excerpt

Encephalocraniocutaneous lipomatosis (ECCL;[MIM:613001]) is a rare sporadic RASopathy due to one of two mutually exclusive fibroblast growth factor receptor 1 (FGFR1) mutations p.N546K or p.K656E. These activating hotspot mutations are identified in affected tissues, but not in the peripheral blood of ECCL patients, and are likely the result of post-zygotic constitutional mosaicism promoting locally constitutive...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic and rare skin diseases.
• Share to Hedgehog Signaling Pathway Studies
• Share to Tumors and Oncological Cases