Clinical Next-Generation Sequencing Successfully Applied to Fine-Needle Aspirations of Pulmonary and Pancreatic Neoplasms

被引：98

作者：

Young, Geneva ^{[1
]}

Wang, Kai ^{[1
]}

He, Jie ^{[1
]}

Otto, Geoff ^{[1
]}

Hawryluk, Matthew ^{[1
]}

Zwirco, Zac ^{[1
]}

Brennan, Tina ^{[1
]}

Nahas, Michelle ^{[1
]}

Donahue, Amy ^{[1
]}

Yelensky, Roman ^{[1
]}

Lipson, Doron ^{[1
]}

Sheehan, Christine E. ^{[2
]}

Boguniewicz, Ann B. ^{[2
]}

Stephens, Philip J. ^{[1
]}

Miller, Vincent A. ^{[1
]}

Ross, Jeffrey S. ^{[1
,2
]}

机构：

[1] Fdn Med Inc, Cambridge, MA USA

[2] Albany Med Coll, Dept Pathol & Lab Med, Albany, NY 12208 USA

来源：

CANCER CYTOPATHOLOGY | 2013年 / 121卷 / 12期

关键词：

fine-needle aspiration biopsy; next-generation sequencing; targeted therapy; mutation; insertion; deletion; gene fusion; copy number alterations; nonsmall cell lung cancer; pancreatic cancer; CELL LUNG-CANCER; ENDOSCOPIC ULTRASOUND; KINASE INHIBITORS; TARGETED THERAPY; GENE FUSIONS; BIOMARKERS; MUTATIONS; EMPHASIS; CYTOLOGY; EGFR;

D O I：

10.1002/cncy.21338

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

BACKGROUNDNext-generation sequencing was performed on pulmonary and pancreatic fine-needle aspirations (FNAs) and on paired FNAs and resected primary tumors from the same patient. METHODSDNA was isolated in formalin-fixed, paraffin-embedded cell blocks from 16 pulmonary FNAs, 23 pancreatic FNAs, and 5 resected pancreatic primary tumors. Next-generation sequencing was performed for 4561 exons of 287 cancer-related genes and for 47 introns of 19 genes on indexed, adaptor-ligated, hybridization-captured libraries using a proprietary sequencing system (the Illumina HiSeq 2000). RESULTSGenomic profiles were generated successfully from 16 of 16 (100%) pulmonary FNAs, which included 14 nonsmall cell lung cancers (NSCLCs) and 2 small cell lung cancers (SCLCs). The NSCLC group included 6 adenocarcinomas, 5 squamous cell carcinomas, and 3 NSCLCs not otherwise specified. Genomic profiles were successfully obtained from 23 of 23 (100%) pancreatic FNAs and from 5 of 5 (100%) matched pancreatic primary tumors, which included 17 ductal adenocarcinomas, 3 mucinous adenocarcinomas, 2 adenocarcinomas NOS, and 1 neuroendocrine tumor. Eighty-one genomic alterations were identified in the 16 pulmonary FNAs (average, 5.1 genomic alterations per patient); and the most common genomic alterations were TP53, RB1, SOX2, PIK3CA, and KRAS. Eighty-seven genomic alterations were identified in the 23 pancreatic tumor FNAs (average, 3.8 genomic alterations per patient); and the most common genomic alterations were KRAS, TP53, CDKN2A/B, SMAD4, and PTEN. Among the pancreatic tumors, there was 100% concordance of 20 genomic alterations that were identified in 5 patient-matched FNA and surgical primary tumor pairs. CONCLUSIONSThe authors were able to perform next-generation sequencing reliably on FNAs of pulmonary and pancreatic tumors, and the genomic alterations discovered correlated well with those identified in matched resected pancreatic tumors. Cancer (Cancer Cytopathol) 2013;121:688-694. (c) 2013 American Cancer Society.

引用

页码：688 / 694

页数：7

共 36 条

[1] EUS-FNA and biomarkers for the staging of non-small cell lung cancer [J].