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Rapid identification of druggable mutations for patients with pediatric cancers using semiconductor sequencing.

Thursday, October 11, 2012 — Poster Session III

10:00 a.m. – Noon

Natcher Conference Center, Building 45




  • L.B. Hurd
  • J.F. Shern
  • A.S. Brohl
  • Y.K. Song
  • X. Wen
  • H. Liao
  • J.S. Wei
  • J. Khan


One of the long-standing challenges of cancer therapy is the genetic heterogeneity affecting the disease course and patient’s response to treatment. This is a cause for concern because pediatric cancer patients who develop refractory or metastatic disease have a cure rate of less than 30%. Emerging personalized medicine may deliver a solution by treating each patient individually based on the molecular profiles of mutations and expression. Several large scale studies are being done to identify driver mutations in a host of pediatric cancers. Here we describe a method for rapid detection of known actionable mutations using a novel semiconductor sequencing technology and a commercially available cancer mutation detecting panel that includes mutated genes in pediatric cancers including FGFR4. Two COSMIC oncogenic mutations in NRAS and TP53 were identified in RD, a rhabdomyosarcoma cell line, using this quick, robust method. Based on this approach, we are testing the Ion AmpliSeq Comprehensive Cancer Panel (409 genes) for implementation in Pediatric Oncology Branch clinical trials. The pediatric cancer tumors screened for druggable mutations include neuroblastoma, rhabdomyosarcoma, Ewing’s sarcoma, and synovial sarcoma. Our method will enable individualized therapy for pediatric patients with refractory or relapsed cancers for which there are currently no curative options.

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