Rhabdoid Tumors ? SMARCB1 Loss

Rhabdoid tumours are uncommon, very aggressive neoplasms that predominantly impact newborns and young children, although they may manifest at any age. The kidneys, the central nervous system (CNS), and soft tissues are the most prevalent places for these tumours to grow. The deletion or inactivation of the SMARCB1 gene (also known as INI1, hSNF5, or BAF47) is a key molecular feature of rhabdoid tumours. This gene is very important for changing the structure of chromatin and controlling gene expression.

The SMARCB1 gene is a key part of the SWI/SNF chromatin-remodelling complex, which changes how accessible DNA is to control gene expression. Missing SMARCB1 can cause tumour cells to grow uncontrollably due to improper functioning of important genes. Immunohistochemistry can show this genetic change, which usually means that tumour cells have completely lost the expression of the INI1 protein.

Rhabdoid tumours grow quickly and have a bad prognosis in the clinic. Standard therapies are surgery, strong chemotherapy, and radiation therapy, but the chances of survival are still low, especially for metastatic cases. Researchers are looking into new targeted therapies and molecular profiling to see whether they may enhance outcomes. To correctly classify and plan treatment for SMARCB1 deletion, it is important to find it early and confirm it genetically.