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000181849 037__ $$aDKFZ-2022-02264
000181849 041__ $$aEnglish
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000181849 1001_ $$00000-0002-0253-8512$$aHendrikse, Liam D$$b0
000181849 245__ $$aFailure of human rhombic lip differentiation underlies medulloblastoma formation.
000181849 260__ $$aLondon [u.a.]$$bNature Publ. Group$$c2022
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000181849 500__ $$a2022 Sep;609(7929):1021-1028
000181849 520__ $$aMedulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain1-4. Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the upper rhombic lip (RL) granule cell lineage5-8. By contrast, mutations that activate WNT signalling lead to WNT MB in the lower RL9,10. However, little is known about the more commonly occurring group 4 (G4) MB, which is thought to arise in the unipolar brush cell lineage3,4. Here we demonstrate that somatic mutations that cause G4 MB converge on the core binding factor alpha (CBFA) complex and mutually exclusive alterations that affect CBFA2T2, CBFA2T3, PRDM6, UTX and OTX2. CBFA2T2 is expressed early in the progenitor cells of the cerebellar RL subventricular zone in Homo sapiens, and G4 MB transcriptionally resembles these progenitors but are stalled in developmental time. Knockdown of OTX2 in model systems relieves this differentiation blockade, which allows MB cells to spontaneously proceed along normal developmental differentiation trajectories. The specific nature of the split human RL, which is destined to generate most of the neurons in the human brain, and its high level of susceptible EOMES+KI67+ unipolar brush cell progenitor cells probably predisposes our species to the development of G4 MB.
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000181849 7001_ $$aMillman, Jake$$b3
000181849 7001_ $$aSjoboen, Alexandria H$$b4
000181849 7001_ $$00000-0002-6134-7812$$aErickson, Anders W$$b5
000181849 7001_ $$aOng, Winnie$$b6
000181849 7001_ $$aGordon, Victor$$b7
000181849 7001_ $$aCoudière-Morrison, Ludivine$$b8
000181849 7001_ $$aMercier, Audrey L$$b9
000181849 7001_ $$00000-0001-5061-7058$$aShokouhian, Mohammad$$b10
000181849 7001_ $$aSuárez, Raúl A$$b11
000181849 7001_ $$aLy, Michelle$$b12
000181849 7001_ $$aBorlase, Stephanie$$b13
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000181849 7001_ $$aVladoiu, Maria C$$b15
000181849 7001_ $$aFarooq, Hamza$$b16
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000181849 7001_ $$00000-0002-5198-3516$$aNakashima, Takuma$$b18
000181849 7001_ $$aNambu, Shohei$$b19
000181849 7001_ $$aFunakoshi, Yusuke$$b20
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000181849 7001_ $$00000-0003-2475-3077$$aDiaz-Mejia, J Javier$$b22
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000181849 7001_ $$00000-0001-7984-3147$$aWang, Evan Y$$b27
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000181849 7001_ $$aMungall, Karen L$$b35
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