作者: Stephen J. Murphy , Marie-Christine Aubry , Faye R. Harris , Geoffrey C. Halling , Sarah H. Johnson
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摘要: Purpose Distinguishing independent primary tumors from intrapulmonary metastases in non–small-cell carcinoma remains a clinical dilemma with significant implications. Using next-generation DNA sequencing, we developed chromosomal rearrangement–based approach to differentiate multiple metastasis. Methods Tumor specimens patients known and metastatic lesions were used for lineage test development, which was then applied multifocal tumors. Laser capture microdissection performed separately each tumor. Genomic isolated using direct situ whole-genome amplification methodology, sequencing an Illumina mate-pair library protocol. Sequence reads mapped the human genome, primers spanning fusion junctions validation polymerase chain reaction. Results A total of 41 tumor samples sequenced (33 adenocarcinomas [ADs] eight squamous cell carcinomas [SQCCs...