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Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.

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Churchman, ML; Qian, M; Te Kronnie, G; Zhang, R; Yang, W; Zhang, H; Lana, T; Tedrick, P; Baskin, R; Verbist, K; Peters, JL; Devidas, M; Gu, Z ...
Published in: Cancer Cell
May 14, 2018

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 adhesion molecules causing aberrant cell-cell and cell-stroma interaction, and decreased sensitivity to tyrosine kinase inhibitors. Here we report coding germline IKZF1 variation in familial childhood ALL and 0.9% of presumed sporadic B-ALL, identifying 28 unique variants in 45 children. The majority of variants adversely affected IKZF1 function and drug responsiveness of leukemic cells. These results identify IKZF1 as a leukemia predisposition gene, and emphasize the importance of germline genetic variation in the development of both familial and sporadic ALL.

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Published In

Cancer Cell

DOI

EISSN

1878-3686

Publication Date

May 14, 2018

Volume

33

Issue

5

Start / End Page

937 / 948.e8

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
  • Pedigree
  • Oncology & Carcinogenesis
  • Neoplasm Transplantation
  • Mice
  • Male
  • Ikaros Transcription Factor
  • Humans
  • Germ-Line Mutation
 

Citation

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Churchman, M. L., Qian, M., Te Kronnie, G., Zhang, R., Yang, W., Zhang, H., … Mullighan, C. G. (2018). Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. In Cancer Cell (Vol. 33, pp. 937-948.e8). United States. https://doi.org/10.1016/j.ccell.2018.03.021
Churchman, Michelle L., Maoxiang Qian, Geertruy Te Kronnie, Ranran Zhang, Wenjian Yang, Hui Zhang, Tobia Lana, et al. “Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.” In Cancer Cell, 33:937-948.e8, 2018. https://doi.org/10.1016/j.ccell.2018.03.021.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, et al. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. In: Cancer Cell. 2018. p. 937-948.e8.
Churchman, Michelle L., et al. “Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia.Cancer Cell, vol. 33, no. 5, 2018, pp. 937-948.e8. Pubmed, doi:10.1016/j.ccell.2018.03.021.
Churchman ML, Qian M, Te Kronnie G, Zhang R, Yang W, Zhang H, Lana T, Tedrick P, Baskin R, Verbist K, Peters JL, Devidas M, Larsen E, Moore IM, Gu Z, Qu C, Yoshihara H, Porter SN, Pruett-Miller SM, Wu G, Raetz E, Martin PL, Bowman WP, Winick N, Mardis E, Fulton R, Stanulla M, Evans WE, Relling MV, Pui C-H, Hunger SP, Loh ML, Handgretinger R, Nichols KE, Yang JJ, Mullighan CG. Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. Cancer Cell. 2018. p. 937-948.e8.
Journal cover image

Published In

Cancer Cell

DOI

EISSN

1878-3686

Publication Date

May 14, 2018

Volume

33

Issue

5

Start / End Page

937 / 948.e8

Location

United States

Related Subject Headings

  • Sequence Analysis, DNA
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
  • Pedigree
  • Oncology & Carcinogenesis
  • Neoplasm Transplantation
  • Mice
  • Male
  • Ikaros Transcription Factor
  • Humans
  • Germ-Line Mutation