Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing

被引：379

作者：

Leary, Rebecca J. ^{[1
,2
]}

Kinde, Isaac ^{[1
,2
]}

Diehl, Frank ^{[1
,2
]}

Schmidt, Kerstin ^{[1
,2
]}

Clouser, Chris ^{[3
]}

Duncan, Cisilya ^{[3
]}

Antipova, Alena ^{[3
]}

Lee, Clarence ^{[3
]}

McKernan, Kevin ^{[3
]}

De la Vega, Francisco M. ^{[4
]}

Kinzler, Kenneth W. ^{[1
,2
]}

Vogelstein, Bert ^{[1
,2
]}

Diaz, Luis A., Jr. ^{[1
,2
]}

Velculescu, Victor E. ^{[1
,2
]}

机构：

[1] Johns Hopkins Kimmel Canc Ctr, Ludwig Ctr Canc Genet & Therapeut, Baltimore, MD 21231 USA

[2] Johns Hopkins Kimmel Canc Ctr, Howard Hughes Med Inst, Baltimore, MD 21231 USA

[3] Life Technol, Beverly, MA 01915 USA

[4] Life Technol, Foster City, CA 94404 USA

来源：

SCIENCE TRANSLATIONAL MEDICINE | 2010年 / 2卷 / 20期

关键词：

MINIMAL RESIDUAL DISEASE; ACUTE LYMPHOBLASTIC-LEUKEMIA; COPY NUMBER VARIATION; STRUCTURAL VARIATION; COLORECTAL CANCERS; GENE FUSIONS; HUMAN BREAST; HUMAN GENOME; RESOLUTION; REARRANGEMENT;

D O I：

10.1126/scitranslmed.3000702

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Clinical management of human cancer is dependent on the accurate monitoring of residual and recurrent tumors. The evaluation of patient-specific translocations in leukemias and lymphomas has revolutionized diagnostics for these diseases. We have developed a method, called personalized analysis of rearranged ends (PARE), which can identify translocations in solid tumors. Analysis of four colorectal and two breast cancers with massively parallel sequencing revealed an average of nine rearranged sequences (range, 4 to 15) per tumor. Polymerase chain reaction with primers spanning the breakpoints was able to detect mutant DNA molecules present at levels lower than 0.001% and readily identified mutated circulating DNA in patient plasma samples. This approach provides an exquisitely sensitive and broadly applicable approach for the development of personalized biomarkers to enhance the clinical management of cancer patients.

引用

页数：7

共 29 条

[1]

[Anonymous], PRIMER3 VERSION 0 4

[2] Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution [J].

Bignell, Graham R. ;

Santarius, Thomas ;

Pole, Jessica C. M. ;

Butler, Adam P. ;

Perry, Janet ;

Pleasance, Erin ;

Greenman, Chris ;

Menzies, Andrew ;

Taylor, Sheila ;

Edkins, Sarah ;

Campbell, Peter ;

Quail, Michael ;

Plumb, Bob ;

Matthews, Lucy ;

Mclay, Kirsten ;

Edwards, Paul A. W. ;

Rogers, Jane ;

Wooster, Richard ;

Futreal, P. Andrew ;

Stratton, Michael R. .

GENOME RESEARCH, 2007, 17 (09) :1296-1303

[3] MINIMAL RESIDUAL DISEASE IN ACUTE LYMPHOBLASTIC-LEUKEMIA DETECTED BY IMMUNE SELECTION AND GENE REARRANGEMENT ANALYSIS [J].

BREGNI, M ;

SIENA, S ;

NERI, A ;

BASSAN, R ;

BARBUI, T ;

DELIA, D ;

BONADONNA, G ;

FAVERA, RD ;

GIANNI, AM .

JOURNAL OF CLINICAL ONCOLOGY, 1989, 7 (03) :338-343

[4] Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing [J].

Campbell, Peter J. ;

Stephens, Philip J. ;

Pleasance, Erin D. ;

O'Meara, Sarah ;

Li, Heng ;

Santarius, Thomas ;

Stebbings, Lucy A. ;

Leroy, Catherine ;

Edkins, Sarah ;

Hardy, Claire ;

Teague, Jon W. ;

Menzies, Andrew ;

Goodhead, Ian ;

Turner, Daniel J. ;

Clee, Christopher M. ;

Quail, Michael A. ;

Cox, Antony ;

Brown, Clive ;

Durbin, Richard ;

Hurles, Matthew E. ;

Edwards, Paul A. W. ;

Bignell, Graham R. ;

Stratton, Michael R. ;

Futreal, P. Andrew .

NATURE GENETICS, 2008, 40 (06) :722-729

[5] High-resolution mapping of copy-number alterations with massively parallel sequencing [J].

Chiang, Derek Y. ;

Getz, Gad ;

Jaffe, David B. ;

O'Kelly, Michael J. T. ;

Zhao, Xiaojun ;

Carter, Scott L. ;

Russ, Carsten ;

Nusbaum, Chad ;

Meyerson, Matthew ;

Lander, Eric S. .

NATURE METHODS, 2009, 6 (01) :99-103

[6]

Di CH, 2005, CANCER RES, V65, P919

[7] Circulating mutant DNA to assess tumor dynamics [J].

Diehl, Frank ;

Schmidt, Kerstin ;

Choti, Michael A. ;

Romans, Katharine ;

Goodman, Steven ;

Li, Meng ;

Thornton, Katherine ;

Agrawal, Nishant ;

Sokoll, Lori ;

Szabo, Steve A. ;

Kinzler, Kenneth W. ;

Vogelstein, Bert ;

Diaz, Luis A., Jr. .

NATURE MEDICINE, 2008, 14 (09) :985-990

[8] Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations [J].

Dressman, D ;

Yan, H ;

Traverso, G ;

Kinzler, KW ;

Vogelstein, B .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (15) :8817-8822

[9] Prospective Minimal Residual Disease Monitoring to Predict Relapse of Acute Promyelocytic Leukemia and to Direct Pre-Emptive Arsenic Trioxide Therapy [J].

Grimwade, David ;

Jovanovic, Jelena V. ;

Hills, Robert K. ;

Nugent, Elizabeth A. ;

Patel, Yashma ;

Flora, Rajinder ;

Diverio, Daniela ;

Jones, Katy ;

Aslett, Hannah ;

Batson, Elaine ;

Rennie, Kristian ;

Angell, Roger ;

Clark, Richard E. ;

Solomon, Ellen ;

Lo-Coco, Francesco ;

Wheatley, Keith ;

Burnett, Alan K. .

JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (22) :3650-3658

[10] Monitoring CML patients responding to treatment with tyrosine kinase inhibitors:: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results [J].

Hughes, Timothy ;

Deininger, Michael ;

Hochhaus, Andreas ;

Branford, Susan ;

Radich, Jerald ;

Kaecla, Jaspal ;

Baccarani, Michele ;

Cortes, Jorge ;

Cross, Nicholas C. P. ;

Druker, Brian J. ;

Gabert, Jean ;

Grimwade, David ;

Hehlmann, Ruediger ;

Kamel-Reid, Suzanne ;

Lipton, Jeffrey H. ;

Longtine, Janina ;

Martinelli, Giovanni ;

Saglio, Giuseppe ;

Soverini, Simona ;

Stock, Wendy ;

Goldman, John M. .

BLOOD, 2006, 108 (01) :28-37

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