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IL7R
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Interpretation 26
Tier 1
IL7R
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
T Lymphoblastic Leukemia/Lymphoma
Interpretation

IL7R (Interleukin 7 receptor alpha) is required for normal lymphocyte development. Loss of function mutations are seen in severe combined immunodeficiency. More recently, heterozygous, somatic, activating mutations have been described in pediatric B-cell and T-cell acute lymphoblastic leukemia. These mutations are most frequently in-frame insertions and deletions in the transmembrane domain. In general, these mutations lead to the addition of a cysteine residue in the juxtamembrane domain, a change that is essential for the resultant constiutive activation of the receptor and JAK/STAT and mTOR pathways. Recently, non-cysteine mutations have been described in the transmembrane domain of IL7R, some of which are activating. IL7R mutations have been described in up to 6% of childhood B-ALL and are typically associated with aberrant CRLF2 expresssion and in up to 10% of childhood T-ALL/adult T-ALL and may co-exist with NOTCH1 mutations. These mutations are rare in adult AML(1%). The prognostic significance of these mutations remains to be elucidated. These mutations may have implications for targetted therapy. In addition to in frame exon 6 in/dels, activating mutations in exon 5 have been described in IL7R which are not detected by this assay.

Citations
  1. Shochat C, et al. Gain-of-function mutations in interleukin-7 receptor-a (IL7R) in childhood acute lymphoblastic leukemias. J Exp Med 2011;208(5):901-8
  2. Shochat C, et al. Novel activating mutations lacking cysteine in type I cytokine receptors in acute lymphoblastic leukemia. Blood 2014;124(1):106-10
  3. Zenatti PP, et al. Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia. Nat Genet 2011;43(10):932-9
  4. Kim MS, et al. Somatic mutation of IL7R exon 6 in acute leukemias and solid cancers. Hum Pathol 2013;44(4):551-5
Last updated: 2016-06-04 22:16:45 UTC
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