Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia

• Published in: Cancer cell Vol. 33; no. 5; pp. 937 - 948.e8
• Main Authors: Churchman, Michelle L., Qian, Maoxiang, te Kronnie, Geertruy, Zhang, Ranran, Yang, Wenjian, Zhang, Hui, Lana, Tobia, Tedrick, Paige, Baskin, Rebekah, Verbist, Katherine, Peters, Jennifer L., Devidas, Meenakshi, Larsen, Eric, Moore, Ian M., Gu, Zhaohui, Qu, Chunxu, Yoshihara, Hiroki, Porter, Shaina N., Pruett-Miller, Shondra M., Wu, Gang, Raetz, Elizabeth, Martin, Paul L., Bowman, W. Paul, Winick, Naomi, Mardis, Elaine, Fulton, Robert, Stanulla, Martin, Evans, William E., Relling, Mary V., Pui, Ching-Hon, Hunger, Stephen P., Loh, Mignon L., Handgretinger, Rupert, Nichols, Kim E., Yang, Jun J., Mullighan, Charles G.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 14.05.2018
• Subjects: acute lymphoblastic leukemia; ALL; Animals; Child; drug response; familial leukemia; Female; Frameshift Mutation; Genetic Predisposition to Disease; Germ-Line Mutation; germline genetic variation; Humans; IKAROS; Ikaros Transcription Factor - genetics; Ikaros Transcription Factor - metabolism; IKZF1; immunodeficiency; Male; Mice; Neoplasm Transplantation; Pedigree; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma - metabolism; predisposition; Sequence Analysis, DNA; drug response; ALL; germline genetic variation; acute lymphoblastic leukemia; IKAROS; predisposition; immunodeficiency; IKZF1; familial leukemia

Somatic genetic alterations of IKZF1, which encodes the lymphoid transcription factor IKAROS, are common in high-risk B-progenitor acute lymphoblastic leukemia (ALL) and are associated with poor prognosis. Such alterations result in the acquisition of stem cell-like features, overexpression of adhes...