Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer (vol 164, pg 627, 2017)

被引：1

作者：

Maxwell, Kara N. ^{[1
]}

Soucier-Ernst, Danielle ^{[2
]}

Tahirovic, Emin ^{[3
]}

Troxel, Andrea B. ^{[7
]}

Clark, Candace ^{[2
]}

Feldman, Michael ^{[4
]}

Colameco, Christopher ^{[2
]}

Kakrecha, Bijal ^{[1
]}

Langer, Melissa ^{[8
]}

Lieberman, David ^{[4
]}

Morrissette, Jennifer J. D. ^{[4
]}

Paul, Matt R. ^{[5
]}

Pan, Tien-chi ^{[5
]}

Yee, Stephanie ^{[1
]}

Shih, Natalie ^{[4
]}

Carpenter, Erica ^{[1
,2
]}

Chodosh, Lewis A. ^{[2
,5
,6
]}

DeMichele, Angela ^{[1
,2
,3
]}

机构：

[1] Univ Penn, Dept Med, Perelman Sch Med, Div Hematol Oncol, Philadelphia, PA 19104 USA

[2] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[3] Univ Penn, Dept Biostat & Epidemiol, Perelman Sch Med, Philadelphia, PA 19104 USA

[4] Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA USA

[5] Univ Penn, Perelman Sch Med, Dept Canc Biol, Philadelphia, PA 19104 USA

[6] Univ Penn, Dept Med, Div Endocrinol Diabet & Metab, Perelman Sch Med, Philadelphia, PA 19104 USA

[7] NYU Sch Med, Dept Populat Hlth, New York, NY USA

[8] Univ Maryland, Sch Med, Baltimore, MD 21201 USA

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2017年 / 164卷 / 03期

关键词：

Cell-free DNA; Genomic testing; Liquid biopsy; Massively parallel sequencing; Metastatic breast cancer;

D O I：

10.1007/s10549-017-4339-9

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Breast cancer metastases differ biologically from primary disease; therefore, metastatic biopsies may assist in treatment decision making. Commercial genomic testing of both tumor and circulating tumor DNA have become available clinically, but utility of these tests in breast cancer management remains unclear. Patients undergoing a clinically indicated metastatic tumor biopsy were consented to the ongoing METAMORPH registry. Tumor and blood were collected at the time of disease progression before subsequent therapy, and patients were followed for response on subsequent treatment. Tumor testing (n = 53) and concurrent cell-free DNA (n = 32) in a subset of patients was performed using CLIA-approved assays. The proportion of patients with a genomic alteration was lower in tumor than in blood (69 vs. 91%; p = 0.06). After restricting analysis to alterations covered on both platforms, 83% of tumor alterations were detected in blood, while 90% of blood alterations were detected in tumor. Mutational load specific for the panel genes was calculated for both tumor and blood. Time to progression on subsequent treatment was significantly shorter for patients whose tumors had high panel-specific mutational load (HR 0.31, 95% CI 0.12-0.78) or a TP53 mutation (HR 0.35, 95% CI 0.20-0.79), after adjusting for stage at presentation, hormone receptor status, prior treatment type, and number of lines of metastatic treatment. Treating oncologists must distinguish platform differences from true biological heterogeneity when comparing tumor and cfDNA genomic testing results. Tumor and concurrent cfDNA contribute unique genomic information in metastatic breast cancer patients, providing potentially useful biomarkers for aggressive metastatic disease.

引用

页码：639 / 640

页数：2