The most common genetic mutation (found in 80-90% of<unk> s) is the inactivation of the SMARCB1 gene, or the loss of INI-1 function, which is thought to be a major contributor to disease progression.<unk>  typically contains chromosome 22q11.2 mutations or deletions and 8q gains, particularly i(8) (>q10). Aberrations of 18q and 8q, as well as recurrent gains at 11q13, have also been observed. The SMARCB1 gene (also termed BAF47, INI1, or hSNF5) is located on chromosome 22q11.2 and codes for a member of the SWI/SNF chromatin remodeling complex. Loss of SMARCB1 function is the most common genetic mutation observed in<unk> , and this dysfunction is likely a major driver of disease progression. SMARCB1 is a core protein subunit of the 15 subunit SWI/SNF (or BAF) complex involved in regulating the nucleosome architecture of our genome and has been shown to be a potent tumor suppressor gene, meaning that its primary role is to control cell division and to even halt division under appropriate circumstances (i.e. signals to over-replicate). As this tumor suppressor is commonly inactivated in<unk> , cell division can fail to appropriately halt, resulting in unregulated cellular growth and the formation of cancer tumors. Several research teams are currently developing techniques to reverse this loss of genetic function characteristic of<unk> .
Epithelioid sarcoma
Angiomatoid fibrous histiocytoma
Alveolar soft part sarcoma
Sclerosing epithelioid fibrosarcoma
Undifferentiated pleomorphic sarcoma
Mast cell sarcoma
Hemangiosarcoma
Adenomatoid tumor