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A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.

Genome Med. 2016; 
Dela CruzFilemon S,DiolaitiDaniel,TurkAndrew T,RaineyAllison R,Ambesi-ImpiombatoAlberto,AndrewsStuart J,MansukhaniMahesh M,NagyPeter L,AlvarezMariano J,CalifanoAndrea,ForouharFarhad,ModzelewskiBeata,MitchellChelsey M,YamashiroDarrell J,MarksLianna J,Glade BenderJulia L,KungAndr
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Gene Synthesis pBABEbleo-Flag-BRAF-V600E was kindly provided by Christopher Counter (Addgene, plasmid # 53156). pBabe-bleo-Flag-BRAF-WT and pBABEbleo-FLAG-BRAF-K483E were generated by gene synthesis and cloning (GenScript, Piscataway, NJ, USA)...MAX, MAXR60Q, C-MYC, and MXD1 cDNAs were generated by gene synthesis (GenScript) and cloned into pF3A WG (BYDV) Flexi® Vector (Promega). Get A Quote

摘要

Precision medicine approaches are ideally suited for rare tumors where comprehensive characterization may have diagnostic, prognostic, and therapeutic value. We describe the clinical case and molecular characterization of an adolescent with metastatic poorly differentiated carcinoma (PDC). Given the rarity and poor prognosis associated with PDC in children, we utilized genomic analysis and preclinical models to validate oncogenic drivers and identify molecular vulnerabilities.

关键词

BRAF,MAX,Patient-derived xenograft (PDX) models,Poorly differentiated carcinoma (PDC),Precision medicine,Temsirolimus,Whole exome sequencing (WES),