Article
Clonal evolution mechanisms in NT5C2 mutant-relapsed acute lymphoblastic leukaemia.
Nature - 25 Jan 2018
Tzoneva Gannie, Dieck Chelsea L, Oshima Koichi, Ambesi-Impiombato Alberto, Sánchez-Martín Marta, Madubata Chioma J, Khiabanian Hossein, Yu Jiangyan, Waanders Esme, Iacobucci Ilaria, Sulis Maria Luisa, Kato Motohiro, Koh Katsuyoshi, Paganin Maddalena, Basso Giuseppe, Gastier-Foster Julie M, Loh Mignon L, Kirschner-Schwabe Renate, Mullighan Charles G, Rabadan Raul, Ferrando Adolfo A
Abstract excerpt
Relapsed acute lymphoblastic leukaemia (ALL) is associated with resistance to chemotherapy and poor prognosis. Gain-of-function mutations in the 5'-nucleotidase, cytosolic II (NT5C2) gene induce resistance to 6-mercaptopurine and are selectively present in relapsed ALL. Yet, the mechanisms involved in NT5C2 mutation-driven clonal evolution during the initiation of leukaemia, disease progression and relapse remain...
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