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PIK3CA
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Interpretation 19
Tier 1
PIK3CA
Variants
PIK3CA E542K
PIK3CA E545K
PIK3CA H1047R
PIK3CA codon(s) 542, 545, 1047 any
PIK3CA exon(s) 10, 20, 21 any
Primary Sites
Blood
Bone Marrow
Tumor Types
Diffuse Large B Cell Lymphoma
Chronic Lymphocytic Leukemia
Interpretation

PIK3CA is the the p110 catalytic subunit-alpha of phosphatidylinositol 3 kinase. Activating mutations of PIK3CA occur in various types. PIK3CA mutations have been reported in approximately 8% of cases of diffuse large B cell lymphoma and are typically mutually exclusive of PTEN loss in that tumor type. PIK3CA mutations are very rare in chronic lymphocytic leukemia and believed to be absent in acute myeloid leukemia and myelodysplastic syndromes. PIK3CA mutations are potentially targetable in some settings and pathway inhibitors are currently under investigation .

Citations
  1. Abubaker J, et al. PIK3CA mutations are mutually exclusive with PTEN loss in diffuse large B-cell lymphoma. Leukemia 2007;21(11):2368-70
  2. Marincevic M, et al. Infrequent occurrence of PIK3CA mutations in chronic lymphocytic leukemia. Leuk Lymphoma 2009;50(5):829-30
  3. Hummerdal P, et al. Absence of hot spot mutations of the PIK3CA gene in acute myeloid leukaemia. Eur J Haematol 2006;77(1):86-7
  4. Kalender Atak Z, et al. High accuracy mutation detection in leukemia on a selected panel of cancer genes. PLoS One 2012;7(6):e38463
  5. Janku F, et al. Assessing PIK3CA and PTEN in early-phase trials with PI3K/AKT/mTOR inhibitors. Cell Rep 2014;6(2):377-87
  6. Muller CI, et al. Rare mutations of the PIK3CA gene in malignancies of the hematopoietic system as well as endometrium, ovary, prostate and osteosarcomas, and discovery of a PIK3CA pseudogene. Leuk Res 2007;31(1):27-32
Last updated: 2016-06-04 21:43:12 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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