Ludwig study shows how loss of a single gene fuels a childhood brain cancer

SEPTEMBER 11, 2020, NEW YORK – Atypical teratoid rhabdoid tumors (ATRT) are rare, fast-growing brain tumors that mostly strike children three years and younger. There are multiple treatments but no definitive standard of care, and long-term survival is poor.

The cause of ATRT is primarily linked to inactivation of a gene called SMARCB1, part of a larger protein complex that helps regulate gene expression in developmental processes. In a study published online September 10, 2020, in Genes & Development, scientists led by Ludwig San Diego’s Frank Furnari, who is also a professor of pathology at the University of California San Diego School of Medicine, describe how SMARCB1 loss disrupts neural development and promotes tumor growth.

The team used an organoid model built with genetically manipulated human pluripotent stem cells to identify an interaction between the loss of SMARCB1 and neural differentiation pressure. This confluence of events resulted in cellular health defects and resistance to final differentiation that resembled that seen in patient tumors.

The researchers plan to use their ATRT model to identify drug targets to promote normal differentiation and so treat the cancer.

For more, see the UC San Diego release from which this summary is derived.

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