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SMARCB1 Gene Inactivation to Develop Atypical Teratoid Rhabdoid Tumors (ATRT) in Children, Study Suggests

Oct, 2020

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According to a new research study initiated by the international team of researchers from University of California San Diego School of Medicine and the San Diego Branch of the Ludwig Institute for Cancer Research have suggested about how loss of one specific gene affects neural development and stimulates tumor growth. Moreover, atypical teratoid rhabdoid tumors (ATRT) are unusual, fast-growing form of brain cancer which is caused due to inactivation of a gene known as SMARCB1, which majorly occurs in children of age group of three years and younger, however it is also observed in older children and adults. There are multiple treatments, but chances of long-term survival is low.

Frank Furnari, PhD, professor of pathology and Ludwig San Diego member stated, “Previous research has established that, unlike some cancers, ATRT is predominantly associated with the functional loss of a single gene, SMARCB1 that leads to tumor development through changes in how genes are expressed rather than the combined effect of multiple gene mutations. We need targeted therapeutics and to create those, we need to better understand the mechanisms driving ATRT.”

In this research study, the team incited the removal of SMARCB1 gene in human induced pluripotent stem cells, then engaged the iPSCs to develop into neurons or cerebral organoids that impersonate functional aspects of the developing brain in miniature. Researchers found an interface between the loss of SMARCB1 and neural differentiation pressure, which resulted in a defect in retaining normal cell health that further resulted in tumors.

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