Failure of human rhombic lip differentiation underlies medulloblastoma formation
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Hendrikse, Liam, D | Haldipur, Parthiv | Saulnier, Olivier | Millman, Jake | Sjoboen, Alexandria, H | Erickson, Anders, W | Ong, Winnie | Gordon, Victor | Coudière-Morrison, Ludivine | Mercier, Audrey, L | Shokouhian, Mohammad | Suárez, Raúl, A | Ly, Michelle | Borlase, Stephanie | Scott, David, S | Vladoiu, Maria, C | Farooq, Hamza | Sirbu, Olga | Nakashima, Takuma | Nambu, Shohei | Funakoshi, Yusuke | Bahcheli, Alec | Diaz-Mejia, J, Javier | Golser, Joseph | Bach, Kathleen | Phuong-Bao, Tram | Skowron, Patryk | Wang, Evan, Y | Kumar, Sachin, A | Balin, Polina | Visvanathan, Abhirami | Lee, John, J Y | Ayoub, Ramy | Chen, Xin | Chen, Xiaodi | Mungall, Karen, L | Luu, Betty | Bérubé, Pierre | Wang, Yu, C | Pfister, Stefan, M | Kim, Seung-Ki | Delattre, Olivier | Bourdeaut, Franck | Doz, François | Masliah-Planchon, Julien | Grajkowska, Wieslawa, A | Loukides, James | Dirks, Peter | Fèvre-Montange, Michelle | Jouvet, Anne | French, Pim, J | Kros, Johan, M | Zitterbart, Karel | Bailey, Swneke, D | Eberhart, Charles, G | Rao, Amulya, a N | Giannini, Caterina | Olson, James, M | Garami, Miklós | Hauser, Peter | Phillips, Joanna, J | Ra, Young, S | de Torres, Carmen | Mora, Jaume | Li, Kay, K W | Ng, Ho-Keung | Poon, Wai, S | Pollack, Ian, F | López-Aguilar, Enrique | Gillespie, G, Yancey | van Meter, Timothy, E | Shofuda, Tomoko | Vibhakar, Rajeev | Thompson, Reid, C | Cooper, Michael, K | Rubin, Joshua, B | Kumabe, Toshihiro | Jung, Shin | Lach, Boleslaw | Iolascon, Achille | Ferrucci, Veronica | de Antonellis, Pasqualino | Zollo, Massimo | Cinalli, Giuseppe | Robinson, Shenandoah | Stearns, Duncan, S | van Meir, Erwin, G | Porrati, Paola | Finocchiaro, Gaetano | Massimino, Maura | Carlotti, Carlos, G | Faria, Claudia, C | Roussel, Martine, F | Boop, Frederick | Chan, Jennifer, A | Aldinger, Kimberly, A | Razavi, Ferechte | Silvestri, Evelina | Mclendon, Roger, E | Thompson, Eric, M | Ansari, Marc | Garre, Maria, L | Chico, Fernando | Eguía, Pilar | Pérezpeña, Mario | Morrissy, A, Sorana | Cavalli, Florence, M G | Wu, Xiaochong | Daniels, Craig | Rich, Jeremy, N | Jones, Steven, J M | Moore, Richard, A | Marra, Marco, A | Huang, Xi | Reimand, Jüri | Sorensen, Poul, H | Wechsler-Reya, Robert, J | Weiss, William, A | Pugh, Trevor, J | Garzia, Livia | Kleinman, Claudia, L | Stein, Lincoln, D | Jabado, Nada | Malkin, David | Ayrault, Olivier | Golden, Jeffrey, A | Ellison, David, W | Doble, Brad | Ramaswamy, Vijay | Werbowetski-Ogilvie, Tamra, E | Suzuki, Hiromichi | Millen, Kathleen, J | Taylor, Michael, D
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Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain 1-4. Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the upper rhombic lip (RL) granule cell lineage 5-8. By contrast, mutations that activate WNT signalling lead to WNT MB in the lower RL 9,10. However, little is known about the more commonly occurring group 4 (G4) MB, which is thought to arise in the unipolar brush cell lineage 3,4. Here we demonstrate that somatic mutations that cause G4 MB converge on the core binding factor alpha (CBFA) complex and mutually exclusive alterations that affect CBFA2T2, CBFA2T3, PRDM6, UTX and OTX2. CBFA2T2 is expressed early in the progenitor cells of the cerebellar RL subventricular zone in Homo sapiens, and G4 MB transcriptionally resembles these progenitors but are stalled in developmental
