Human pluripotent stem cell-derived brain tumor model uncovered embryonic stem cell signature as a key driver in atypical teratoid/rhabdoid tumor (microarray)

Atypical teratoid/rhabdoid tumor (AT/RT), which harbors INI1 mutation and exhibits a characteristic histology of rhabdoid cells, has a poor prognosis because of the lack of effective treatments. Here we established human INI1-deficient pluripotent stem cells (hPSCs), which developed AT/RT formation in vivo. However, INI1-deficient hPSC-derived neural progenitor cell (NPC) gave rise to mostly medulloblastoma-like tumors when transplanted into the mouse brain. Analyzing gene expression profiles in hiPSC INI1-/-; TP53-/-, NPC INI1-/-; TP53-/-, hiPSC INI1-/-; TP53-/--derived tumor and NPC INI1-/-; TP53-/--derived tumor.