While there isn't one exact, definitive cause identified for rhabdoid tumors, researchers have made significant discoveries regarding their genetic basis.
Genetic Factors in Rhabdoid Tumor Development
The development of rhabdoid tumors, which encompass aggressive cancers such as malignant rhabdoid tumor (MRT) and atypical teratoid rhabdoid tumor (ATRT), is very strongly linked to specific genetic changes.
A key finding is that nearly all rhabdoid tumors are characterized by a mutation in a particular gene. This gene is known by several names, reflecting its various designations in scientific literature, all pointing to its critical role in normal cellular function:
- SMARCB1
- INI1
- SNF5
- BAF47
The mutation of the SMARCB1 gene (and its aliases) is a consistent characteristic found across almost all rhabdoid tumor cases. This indicates its central involvement in the formation and progression of these aggressive cancers. This genetic alteration is understood to disrupt normal cellular processes, which in turn leads to the uncontrolled cell growth and division that define tumor development.
