Detection of an ALK Fusion in Colorectal Carcinoma by Hybrid Capture-Based Assay of Circulating Tumor DNA

被引：23

作者：

Lai, Andrea Z. ^{[1
]}

Schrock, Alexa B. ^{[1
]}

Erlich, Rachel L. ^{[1
]}

Ross, Jeffrey S. ^{[1
]}

Miller, Vincent A. ^{[1
]}

Yakirevich, Evgeny ^{[2
]}

Ali, Siraj M. ^{[1
]}

Braiteh, Fadi ^{[3
,4
]}

机构：

[1] Fdn Med Inc, 150 Second St, Cambridge, MA 02141 USA

[2] Brown Univ, Rhode Isl Hosp, Dept Pathol, Alpert Med Sch, Providence, RI 02903 USA

[3] Comprehens Canc Ctr Nevada, Las Vegas, NV USA

[4] Univ Nevada, Sch Med, Reno, NV 89557 USA

来源：

ONCOLOGIST | 2017年 / 22卷 / 07期

关键词：

ANAPLASTIC LYMPHOMA; PD-1; BLOCKADE; CANCER; IDENTIFICATION; ADENOCARCINOMA; HETEROGENEITY; REARRANGEMENT; LANDSCAPE; TARGET;

D O I：

10.1634/theoncologist.2016-0376

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

ALK rearrangements have been observed in 0.05%-2.5% of patients with colorectal cancers (CRCs) and are predicted to be oncogenic drivers largely mutually exclusive of KRAS, NRAS, or BRAF alterations. Here we present the case of a patient with metastatic CRC who was treatment naiive at the time of molecular testing. Initial ALK immunohistochemistry (IHC) staining was negative, but parallel genomic profiling of both circulating tumor DNA (ctDNA) and tissue using similar hybrid capture-based assays each identified an identical STRN-ALK fusion. Subsequent ALK IHC staining of the same specimens was positive, suggesting that the initial result was a false negative. This report is the first instance of an ALK fusion in CRC detected using a ctDNA assay. The Oncologist 2017; 22: 774-779

引用

页码：774 / 779

页数：6

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