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NOTCH1
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Interpretation 283
Tier 1
NOTCH1
Variants
NOTCH1 exon(s) 34 frameshift
NOTCH1 exon(s) 34 nonsense
NOTCH1 exon(s) 34 missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Chronic Lymphocytic Leukemia
Interpretation

NOTCH1 mutations have also recently been reported in approximately 10% of chronic lymphocytic leukemia and are typically PEST domain mutations in that disease. In CLL, NOTCH1 mutations and tend to be exlusive of SF3B1 mutations and possibly TP53 mutations, although some studies demonstrate that NOTCH1 mutations are associated with mutations of TP53. In CLL, the presence of NOTCH1 mutations has been associated with trisomy 12 and aggressive biologic features(CD38+, ZAP70+, unmutated IgH variable region) and adverse prognosis in some settings. The potential utility of therapeutic targeting of activating NOTCH1 mutations in these diseases remains to be elucidated.

Citations
  1. Weng AP, et al. Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia. Science 2004;306(5694):269-71
  2. Stilgenbauer S, et al. Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial. Blood 2014;123(21):3247-54
  3. Weissmann S, et al. Prognostic impact and landscape of NOTCH1 mutations in chronic lymphocytic leukemia (CLL): a study on 852 patients. Leukemia 2013;27(12):2393-6
  4. Puente XS, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature 2011;475(7354):101-5
  5. Stilgenbauer S, et al. Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial. Blood 2014;123(21):3247-54
  6. Baliakas P, et al. Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia 2015;29(2):329-36
Last updated: 2016-06-04 23:28:05 UTC
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