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CRLF2
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Interpretation 77
Tier 1
CRLF2
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

Cytokine receptor-like factor 2 (CRLF2) is a type I cytokine receptor subunit that dimerizes with IL7R to form the receptor for thymic stromal lymphopoietin (TSLP). Heterozygous, somatic, gain-of-function mutations introducing cysteines in the transmembrane domain have been described in up to 20% of B cell acute lymphoblastic leukemias (ALL). These mutations cause ligand independent dimerization via disulfide bonds. The disulfide bond is critical for the activation since elimination of the cysteines abrogated the cytokine independent growth. In addition, more recently, another activating, non-cysteine mutation in the heterodimerization domain of CRLF2 has been reported.

Citations
  1. Shochat C, et al. Novel activating mutations lacking cysteine in type I cytokine receptors in acute lymphoblastic leukemia. Blood 2014;124(1):106-10
  2. Chapiro E, et al. Activating mutation in the TSLPR gene in B-cell precursor lymphoblastic leukemia. Leukemia 2010;24(3):642-5
  3. Yoda A, et al. Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia. Proc Natl Acad Sci U S A 2010;107(1):252-7
Last updated: 2016-06-05 02:24:17 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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