Detection of breast cancer stem cell gene mutations in circulating free DNA during the evolution of metastases

被引：16

作者：

Liu, Zhe-Bin ^{[1
,2
,14
]}

Ezzedine, Nader E. ^{[3
,4
]}

Eterovic, Agda K. ^{[3
,4
]}

Ensor, Joe E. ^{[5
]}

Huang, Helen J. ^{[6
]}

Albanell, Joan ^{[7
,8
,9
]}

Choi, Dong S. ^{[2
,5
]}

Lluch, Ana ^{[7
,8
,10
]}

Liu, Yi ^{[2
,5
]}

Rojo, Federico ^{[7
,8
,11
]}

Wong, Helen ^{[2
,5
]}

Martinez-Duenas, Eduardo ^{[7
,12
]}

Guerrero-Zotano, Angel ^{[7
,13
]}

Shao, Zhi-Min ^{[1
]}

Darcourt, Jorge G. ^{[5
]}

Mills, Gordon B. ^{[3
,4
]}

Dave, Bhuvanesh ^{[2
,5
]}

Chang, Jenny C. ^{[2
,5
]}

机构：

[1] Fudan Univ, Shanghai Canc Ctr, Dept Breast Surg, Shanghai 20032, Peoples R China

[2] Houston Methodist Res Inst, Houston, TX 77030 USA

[3] Univ Texas MD Anderson Canc Ctr, Dept Syst Biol, Houston, TX 77030 USA

[4] Univ Texas MD Anderson Canc Ctr, Inst Personalized Canc Therapy, Houston, TX 77030 USA

[5] Houston Methodist Canc Ctr, 6445 Main St P21-34, Houston, TX 77030 USA

[6] Univ Texas MD Anderson Canc Ctr, Div Canc Med, Dept Invest Canc Therapeut, Houston, TX 77030 USA

[7] GEICAM Spanish Breast Canc Grp, Madrid 28703, Spain

[8] ISCIII, CIBERONC, Ctr Invest Biomed Red Oncol, Madrid 28029, Spain

[9] Hosp del Mar, Barcelona 08003, Spain

[10] Hosp Clin Univ Valencia, Valencia 46010, Spain

[11] Fdn Jimenez Diaz, E-28040 Madrid, Spain

[12] Hosp Prov Castellon, Castellon de La Plana 12002, Spain

[13] Inst Valenciano Oncol, Valencia 46009, Spain

[14] Fudan Univ, Shanghai Med Coll, Dept Oncol, Shanghai, Peoples R China

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2019年 / 178卷 / 02期

关键词：

Breast carcinoma; Stem cell; Mutation; Droplet digital polymerase chain reaction; Metastasis; DROPLET DIGITAL PCR; QUANTIFICATION; RESISTANCE; THERAPY; PLASMA;

D O I：

10.1007/s10549-019-05374-x

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Purpose Limited knowledge exists on the detection of breast cancer stem cell (BCSC)-related mutations in circulating free DNA (cfDNA) from patients with advanced cancers. Identification of new cancer biomarkers may allow for earlier detection of disease progression and treatment strategy modifications. Methods We conducted a prospective study to determine the feasibility and prognostic utility of droplet digital polymerase chain reaction (ddPCR)-based BCSC gene mutation analysis of cfDNA in patients with breast cancer. Results Detection of quantitative BCSC gene mutation in cfDNA by ddPCR mirrors disease progression and thus may represent a valuable and cost-effective measure of tumor burden. We have previously shown that hematological and neurological expressed 1-like (HN1L), ribosomal protein L39 (RPL39), and myeloid leukemia factor 2 (MLF2) are novel targets for BCSC self-renewal, and targeting these genetic alterations could be useful for personalized genomic-based therapy. Conclusion BCSC mutation detection in cfDNA may have important implications for diagnosis, prognosis, and serial monitoring.

引用

页码：251 / 261

页数：11

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