Very distal deletions including the SMARCB1 gene are associated with an increased risk of malignant rhabdoid tumors.
Inactivating mutations in SMARCB1, formerly known as hSNF5/INI1 and a component of the human SWI/SNF remodeling complex have been found in large number of rhabdoid tumors, commonly affecting pediatric population.
They characteristically have loss of staining for SMARCB1 (INI1, BAF47), and typically stain for CA125.
The candidate schwannomatosis gene, named SMARCB1, is a tumor suppressor gene that regulates cell cycle, growth and differentiation.
SMARCB1 |