期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 59, 期 3, 页码 158-161出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2015.11.010
关键词
Acute lymphoblastic leukemia; Down Syndrome
资金
- Israel Science Foundation [1178/12]
- USA Israel Binational Science Foundation [2007326]
- Israeli Health Ministry grant [ERA-NET TRANSCALL 3-9551]
- Waxman foundation
- Israel Cancer Research Foundation
- Children with Cancer UK
Children with Down Syndrome (DS) are at markedly increased risk for acute lymphoblastic leukemia (ALL). The ALL is of B cell precursor (BCP) phenotype. T-ALL is only rarely diagnosed as well as infant leukemia. Gene expression profiling and cytogenetics suggest that DS-ALL is an heterogeneous disease. More than half of the leukemias are characterized by aberrant expression of the thymic stromal lymphopoietin (TSLP) receptor CRLF2 caused by genomic rearrangements. These rearrangements are often associated with somatic activating mutations in the receptors or in the downstream components of the JAK-STAT pathway. The activation of JAK-STAT pathway suggests that targeted therapy with JAK or downstream inhibitors may be effective for children with DS-ALL. The basis of the increased risk of BCP-ALL and in particular of the CRLF2 aberrations is presently unknown. Neither is it known which genes on the trisomic chromosome 21 are involved. (C) 2015 Elsevier Masson SAS. All rights reserved.
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