PIK3CA Mutations in Neuroblastoma
Author Information
Author(s): Dam Vincent, Morgan Brian T, Mazanek Pavel, Hogarty Michael D
Primary Institution: The Children's Hospital of Philadelphia
Hypothesis
PIK3CA mutations may substitute for activating RAS lesions in neuroblastoma tumourigenesis.
Conclusion
Activating mutations in the Ras/Raf-MAPK/PI3K signaling cascades occur infrequently in neuroblastoma.
Supporting Evidence
- PIK3CA mutations were found in only 2 of 69 neuroblastomas (2.9%).
- No activating mutations were identified in Ras signal transduction genes in the murine model.
- The overall rate of PIK3CA mutations did not differ significantly between MYCN amplified and single-copy tumors.
Takeaway
This study looked at a gene called PIK3CA in a type of childhood cancer called neuroblastoma and found that changes in this gene are very rare.
Methodology
Sequencing of PIK3CA and related genes in 69 human neuroblastomas and 25 murine neuroblastomas.
Limitations
The study focused only on specific 'hotspot' regions of the PIK3CA gene and did not assess all possible mutations.
Participant Demographics
The study included 69 human neuroblastomas (42 primary tumors and 27 cell lines) and 25 murine neuroblastomas.
Digital Object Identifier (DOI)
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