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TP53
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Interpretation 284
Tier 1
TP53
Variants
TP53 copy number loss
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Myeloid Leukemia
Myelodysplastic Syndrome
Interpretation

TP53 is a well known tumor suppressor gene that is mutated in wide variety of cancers. In terms of myeloid disorders, missense, nonsense, and frameshift mutations of TP53 tend to occur in the DNA binding domain and have been reported in approximately 4% of cases of AML where they tend to be associated with a poorer prognosis and an adverse cytogenetic risk profile. TP53 mutations also occur in approximately 10% of patients with myelodysplastic syndrome (MDS) and are often associated with poorer prognosis, adverse cytogenetic profile and deletion of 5q either in isolation or as part of a complex karyotype.

Citations
  1. Malcikova J, et al. The frequency of TP53 gene defects differs between chronic lymphocytic leukaemia subgroups harbouring distinct antigen receptors. Br J Haematol 2014;166(4):621-5
  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. Kihara R, et al. Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. Leukemia 2014;28(8):1586-95
  4. Kulasekararaj AG, et al. TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis. Br J Haematol 2013;160(5):660-72
  5. Muhlbacher V, et al. Acute lymphoblastic leukemia with low hypodiploid/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93%. Genes Chromosomes Cancer 2014;53(6):524-36
  6. Holmfeldt L, et al. The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet 2013;45(3):242-52
  7. Chiaretti S, et al. TP53 mutations are frequent in adult acute lymphoblastic leukemia cases negative for recurrent fusion genes and correlate with poor response to induction therapy. Haematologica 2013;98(5):e59-61
  8. Baliakas P, et al. Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia 2015;29(2):329-36
Last updated: 2016-06-05 01:55:37 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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