Mutation-Enrichment Next-Generation Sequencing for Quantitative Detection of KRAS Mutations in Urine Cell-Free DNA from Patients with Advanced Cancers

被引：45

作者：

Fujii, Takeo ^{[1
]}

Barzi, Afsaneh ^{[2
]}

Sartore-Bianchi, Andrea ^{[3
,4
]}

Cassingena, Andrea ^{[3
,4
]}

Siravegna, Giulia ^{[5
,6
]}

Karp, Daniel D. ^{[1
]}

Piha-Paul, Sarina A. ^{[1
]}

Subbiah, Vivek ^{[1
]}

Tsimberidou, Apostolia M. ^{[1
]}

Huang, Helen J. ^{[1
]}

Veronese, Silvio ^{[3
,4
]}

Di Nicolantonio, Federica ^{[5
,6
]}

Pingle, Sandeep ^{[7
]}

Vibat, Cecile Rose T. ^{[7
]}

Hancock, Saege ^{[7
]}

Berz, David ^{[8
,9
]}

Melnikova, Vladislava O. ^{[7
]}

Erlander, Mark G. ^{[7
]}

Luthra, Rajyalakshmi ^{[10
]}

Kopetz, E. Scott ^{[11
]}

Meric-Bernstam, Funda ^{[1
]}

Siena, Salvatore ^{[3
,4
]}

Lenz, Heinz-Josef ^{[2
]}

Bardelli, Alberto ^{[5
,6
]}

Janku, Filip ^{[1
]}

机构：

[1] Univ Texas MD Anderson Canc Ctr, Dept Invest Canc Therapeut, Phase Clin Trials Program 1, Houston, TX 77030 USA

[2] Univ Southern Calif, Norris Comprehens Canc Ctr, Los Angeles, CA USA

[3] Grande Osped Metropolitano Niguarda, Niguarda Canc Ctr, Milan, Italy

[4] Univ Milan, Milan, Italy

[5] IRCCS, Candiolo Canc Inst FPO, Turin, Italy

[6] Univ Turin, Dept Oncol, Turin, Italy

[7] Trovagene, San Diego, CA USA

[8] Beverly Hills Canc Ctr, Beverly Hills, CA USA

[9] City Hope Natl Med Ctr, Duarte, CA USA

[10] Univ Texas MD Anderson Canc Ctr, Dept Hematopathol, Mol Diagnost Lab, Houston, TX 77030 USA

[11] Univ Texas MD Anderson Canc Ctr, Dept Gastrointestinal Med Oncol, Houston, TX 77030 USA

来源：

CLINICAL CANCER RESEARCH | 2017年 / 23卷 / 14期

基金：

美国国家卫生研究院;

关键词：

CIRCULATING TUMOR DNA; ACQUIRED-RESISTANCE; COLORECTAL-CANCER; EGFR MUTATIONS; BRAF MUTATIONS; NSCLC PATIENTS; SOLID TUMORS; PHASE-I; PLASMA; BREAST;

D O I：

10.1158/1078-0432.CCR-16-2592

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Purpose: Tumor-derived cell-free DNA (cfDNA) from urine of patients with cancer offers noninvasive biological material for detection of cancer-related molecular abnormalities such as mutations in Exon 2 of KRAS. Experimental Design: A quantitative, mutation-enrichment next-generation sequencing test for detecting KRAS(G12/G13) mutations in urine cfDNA was developed, and results were compared with clinical testing of archival tumor tissue and plasma cfDNA from patients with advanced cancer. Results: With 90 to 110 mL of urine, the KRAS(G12/G13) cfDNA test had an analytical sensitivity of 0.002% to 0.006% mutant copies in wild-type background. In 71 patients, the concordance between urine cfDNA and tumor was 73% (sensitivity, 63%; specificity, 96%) for all patients and 89% (sensitivity, 80%; specificity, 100%) for patients with urine samples of 90 to 110 mL. Patients had significantly fewer KRAS(G12/G13) copies in urine cfDNA during systemic therapy than at baseline or disease progression (P = 0.002). Compared with no changes or increases in urine cfDNA KRAS(G12/G13) copies during therapy, decreases in these measures were associated with longer median time to treatment failure (P = 0.03). Conclusions: A quantitative, mutation-enrichment next-generation sequencing test for detecting KRAS(G12/G13) mutations in urine cfDNA had good concordance with testing of archival tumor tissue. Changes in mutated urine cfDNA were associated with time to treatment failure. (C) 2017 AACR.

引用

页码：3657 / 3666

页数：10

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