Genetic Alterations Activating Kinase and Cytokine Receptor Signaling in High-Risk Acute Lymphoblastic Leukemia

被引：556

作者：

Roberts, Kathryn G. ^{[2
]}

Morin, Ryan D. ^{[7
]}

Zhang, Jinghui ^{[3
]}

Hirst, Martin ^{[7
]}

Zhao, Yongjun ^{[7
]}

Su, Xiaoping ^{[2
]}

Chen, Shann-Ching ^{[2
]}

Payne-Turner, Debbie ^{[2
]}

Churchman, Michelle L. ^{[2
]}

Harvey, Richard C. ^{[8
]}

Chen, Xiang ^{[3
]}

Kasap, Corynn ^{[9
]}

Yan, Chunhua ^{[11
]}

Becksfort, Jared ^{[4
]}

Finney, Richard P. ^{[11
]}

Teachey, David T. ^{[15
]}

Maude, Shannon L. ^{[15
]}

Tse, Kane ^{[7
]}

Moore, Richard ^{[7
]}

Jones, Steven ^{[7
]}

Mungall, Karen ^{[7
]}

Birol, Inanc ^{[7
]}

Edmonson, Michael N. ^{[12
]}

Hu, Ying ^{[12
]}

Buetow, Kenneth E. ^{[12
]}

Chen, I-Ming ^{[8
]}

Carroll, William L. ^{[16
]}

Wei, Lei ^{[2
]}

Ma, Jing ^{[2
]}

Kleppe, Maria ^{[17
]}

Levine, Ross L. ^{[17
]}

Garcia-Manero, Guillermo ^{[18
]}

Larsen, Eric ^{[19
]}

Shah, Neil P. ^{[9
]}

Devidas, Meenakshi ^{[20
]}

Reaman, Gregory ^{[21
]}

Smith, Malcolm ^{[13
]}

Paugh, Steven W. ^{[6
]}

Evans, William E. ^{[6
]}

Grupp, Stephan A. ^{[15
]}

Jeha, Sima ^{[5
]}

Pui, Ching-Hon ^{[5
]}

Gerhard, Daniela S. ^{[14
]}

Downing, James R. ^{[2
]}

Willman, Cheryl L. ^{[8
]}

Loh, Mignon ^{[10
]}

Hunger, Stephen P. ^{[1
,23
]}

Marra, Marco A. ^{[7
,22
]}

Mullighan, Charles G. ^{[2
]}

机构：

[1] Univ Colorado, Sch Med, Aurora, CO 80045 USA

[2] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA

[3] St Jude Childrens Res Hosp, Dept Computat Biol & Bioinformat, Memphis, TN 38105 USA

[4] St Jude Childrens Res Hosp, Dept Informat Sci, Memphis, TN 38105 USA

[5] St Jude Childrens Res Hosp, Dept Oncol, Memphis, TN 38105 USA

[6] St Jude Childrens Res Hosp, Dept Pharmaceut Sci, Memphis, TN 38105 USA

[7] BC Canc Agcy, Genome Sci Ctr, Vancouver, BC V5Z 1L3, Canada

[8] Univ New Mexico, Canc Res & Treatment Ctr, Albuquerque, NM 87131 USA

[9] Univ Calif San Francisco, Sch Med, San Francisco, CA 94143 USA

[10] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA

[11] NCI, Ctr Bioinformat & Informat Technol, NIH, Bethesda, MD 20892 USA

[12] NCI, Lab Populat Genet, NIH, Bethesda, MD 20892 USA

[13] NCI, Canc Therapy Evaluat Program, NIH, Bethesda, MD 20892 USA

[14] NCI, Off Canc Genom, NIH, Bethesda, MD 20892 USA

[15] Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA

[16] NYU, Inst Canc, New York, NY 10016 USA

[17] Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA

[18] Univ Texas Houston, MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA

[19] Maine Childrens Canc Program, Scarborough, ME 04074 USA

[20] Univ Florida, Gainesville, FL 32601 USA

[21] Childrens Natl Med Ctr, Washington, DC 20010 USA

[22] Univ British Columbia, Dept Med Genet, Vancouver, BC VSZ 1L3, Canada

[23] Childrens Hosp Colorado, Aurora, CO 80045 USA

来源：

CANCER CELL | 2012年 / 22卷 / 02期

基金：

英国医学研究理事会;

关键词：

ACUTE MYELOID-LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; GROWTH-FACTOR RECEPTOR; OF-FUNCTION MUTATIONS; BCR-JAK2 FUSION GENE; MYELOPROLIFERATIVE NEOPLASMS; FLT3; MUTATIONS; NUCLEAR-PORE; B-PROGENITOR; CHILDHOOD;

D O I：

10.1016/j.ccr.2012.06.005

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Genomic profiling has identified a subtype of high-risk B-progenitor acute lymphoblastic leukemia (B-ALL) with alteration of IKZF1, a gene expression profile similar to BCR-ABL1-positive ALL and poor outcome (Ph-like ALL). The genetic alterations that activate kinase signaling in Ph-like ALL are poorly understood. We performed transcriptome and whole genome sequencing on 15 cases of Ph-like ALL and identified rearrangements involving ABL1, JAK2, PDGFRB, CRLF2, and EPOR, activating mutations of IL7R and FLT3, and deletion of SH2B3, which encodes the JAK2-negative regulator LNK. Importantly, several of these alterations induce transformation that is attenuated with tyrosine kinase inhibitors, suggesting the treatment outcome of these patients may be improved with targeted therapy.

引用

页码：153 / 166

页数：14

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