Systematic Screen for Tyrosine Kinase Rearrangements Identifies a Novel C6orf204-PDGFRB Fusion in a Patient with Recurrent T-ALL and an Associated Myeloproliferative Neoplasm

被引：16

作者：

Chmielecki, Juliann ^{[2
]}

Peifer, Martin ^{[3
,4
]}

Viale, Agnes ^{[5
]}

Hutchinson, Katherine ^{[1
]}

Giltnane, Jennifer ^{[6
]}

Socci, Nicholas D.

Hollis, Clayton J. ^{[6
]}

Dean, Rebecca S. ^{[6
]}

Yenamandra, Ashwini ^{[6
]}

Jagasia, Madan ^{[1
]}

Kim, Annette S. ^{[1
,6
]}

Dave, Utpal P. ^{[1
]}

Thomas, Roman K. ^{[3
,4
,7
,8
,9
]}

Pao, William ^{[1
]}

机构：

[1] Vanderbilt Ingram Canc Ctr, Dept Med, Nashville, TN 37232 USA

[2] Weill Cornell Grad Sch Med Sci, New York, NY USA

[3] Max Planck Soc, Klaus Joachim Zulch Labs, Max Planck Inst Neurol Res, Cologne, Germany

[4] Fac Med, Cologne, Germany

[5] Mem Sloan Kettering Canc Ctr, Genom Core Lab, New York, NY 10021 USA

[6] Vanderbilt Univ, Med Ctr, Nashville, TN USA

[7] Univ Cologne, Dept Internal Med, Cologne, Germany

[8] Univ Cologne, Ctr Integrated Oncol Koln Bonn, Cologne, Germany

[9] Max Planck Soc, Chem Genom Ctr, Dortmund, Germany

来源：

GENES CHROMOSOMES & CANCER | 2012年 / 51卷 / 01期

关键词：

ACUTE MYELOID-LEUKEMIA; CANCER CELL-LINE; CHIMERIC TRANSCRIPT; GENE; IMATINIB; GENOME; DISCOVERY; MELANOMA; PROTEIN; PDGFRB;

D O I：

10.1002/gcc.20930

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Gene fusions involving the catalytic domain of tyrosine kinases (TKs) are found in a variety of hematological and solid tumor malignancies. Clinically, TK fusions have emerged as prime targets for therapy with small molecule kinase inhibitors. Unfortunately, identification of TK fusions has been hampered by experimental limitations. Here, we developed version 2.0 of a genomically based systematic kinase fusion screen and used it to detect a novel imatinib-sensitive C6orf204-PDGFRB fusion in a patient with precursor T lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm with eosinophilia. These data validate the ability of this targeted capture-sequencing approach to detect TK fusion events in small amounts of DNA extracted directly from patient samples. (C) 2011 Wiley Periodicals, Inc.

引用

页码：54 / 65

页数：12

共 29 条

[1] Integrative analysis of the melanoma transcriptome [J].

Berger, Michael F. ;

Levin, Joshua Z. ;

Vijayendran, Krishna ;

Sivachenko, Andrey ;

Adiconis, Xian ;

Maguire, Jared ;

Johnson, Laura A. ;

Robinson, James ;

Verhaak, Roel G. ;

Sougnez, Carrie ;

Onofrio, Robert C. ;

Ziaugra, Liuda ;

Cibulskis, Kristian ;

Laine, Elisabeth ;

Barretina, Jordi ;

Winckler, Wendy ;

Fisher, David E. ;

Getz, Gad ;

Meyerson, Matthew ;

Jaffe, David B. ;

Gabriel, Stacey B. ;

Lander, Eric S. ;

Dummer, Reinhard ;

Gnirke, Andreas ;

Nusbaum, Chad ;

Garraway, Levi A. .

GENOME RESEARCH, 2010, 20 (04) :413-427

[2] The TEL platelet-derived growth factor beta receptor (PDGF beta R) fusion in chronic myelomonocytic leukemia is a transforming protein that self-associates and activates PDGF beta R kinase-dependent signaling pathways [J].

Carroll, M ;

Tomasson, MH ;

Barker, GF ;

Golub, TR ;

Gilliland, DG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (25) :14845-14850

[3] Targeted next-generation sequencing of DNA regions proximal to a conserved GXGXXG signaling motif enables systematic discovery of tyrosine kinase fusions in cancer [J].

Chmielecki, Juliann ;

Peifer, Martin ;

Jia, Peilin ;

Socci, Nicholas D. ;

Hutchinson, Katherine ;

Viale, Agnes ;

Zhao, Zhongming ;

Thomas, Roman K. ;

Pao, William .

NUCLEIC ACIDS RESEARCH, 2010, 38 (20) :6985-6996

[4] Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders [J].

David, Marianna ;

Cross, Nicholas C. P. ;

Burgstaller, Sonja ;

Chase, Andrew ;

Curtis, Claire ;

Dang, Raymond ;

Gardembas, Martine ;

Goldman, John M. ;

Grand, Francis ;

Hughes, George ;

Huguet, Francoise ;

Lavender, Louise ;

McArthur, Grant A. ;

Mahon, Francois X. ;

Massimini, Giorgio ;

Melo, Junia ;

Rousselot, Philippe ;

Russell-Jones, Robin J. ;

Seymour, John F. ;

Smith, Graeme ;

Stark, Alastair ;

Waghorn, Katherine ;

Nikolova, Zariana ;

Apperley, Jane F. .

BLOOD, 2007, 109 (01) :61-64

[5] Five-year follow-up of patients receiving imatinib for chronic myeloid leukemia [J].

Druker, Brian J. ;

Guilhot, Francois ;

O'Brien, Stephen G. ;

Gathmann, Insa ;

Kantarjian, Hagop ;

Gattermann, Norbert ;

Deininger, Michael W. N. ;

Silver, Richard T. ;

Goldman, John M. ;

Stone, Richard M. ;

Cervantes, Francisco ;

Hochhaus, Andreas ;

Powell, Bayard L. ;

Gabrilove, Janice L. ;

Rousselot, Philippe ;

Reiffers, Josy ;

Cornelissen, Jan J. ;

Hughes, Timothy ;

Agis, Hermine ;

Fischer, Thomas ;

Verhoef, Gregor ;

Shepherd, John ;

Saglio, Giuseppe ;

Gratwohl, Alois ;

Nielsen, Johan L. ;

Radich, Jerald P. ;

Simonsson, Bengt ;

Taylor, Kerry ;

Baccarani, Michele ;

So, Charlene ;

Letvak, Laurie ;

Larson, Richard A. .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (23) :2408-2417

[6] Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing [J].

Gnirke, Andreas ;

Melnikov, Alexandre ;

Maguire, Jared ;

Rogov, Peter ;

LeProust, Emily M. ;

Brockman, William ;

Fennell, Timothy ;

Giannoukos, Georgia ;

Fisher, Sheila ;

Russ, Carsten ;

Gabriel, Stacey ;

Jaffe, David B. ;

Lander, Eric S. ;

Nusbaum, Chad .

NATURE BIOTECHNOLOGY, 2009, 27 (02) :182-189

[7] PTC IS A NOVEL REARRANGED FORM OF THE RET PROTO-ONCOGENE AND IS FREQUENTLY DETECTED INVIVO IN HUMAN THYROID PAPILLARY CARCINOMAS [J].

GRIECO, M ;

SANTORO, M ;

BERLINGIERI, MT ;

MELILLO, RM ;

DONGHI, R ;

BONGARZONE, I ;

PIEROTTI, MA ;

DELLAPORTA, G ;

FUSCO, A ;

VECCHIO, G .

CELL, 1990, 60 (04) :557-563

[8] An activated receptor tyrosine kinase, TEL/PDGFβR cooperates with AML1/ETO to induce acute myeloid leukemia in mice [J].

Grisolano, JL ;

O'Neal, J ;

Cain, J ;

Tomasson, MH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (16) :9506-9511

[9] Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia [J].

Gu, Ting-Lei ;

Goss, Valerie L. ;

Reeves, Cynthia ;

Popova, Lana ;

Nardone, Julie ;

MacNeill, Joan ;

Walters, Denise K. ;

Wang, Yi ;

Rush, John ;

Comb, Michael J. ;

Druker, Brian J. ;

Polakiewicz, Roberto D. .

BLOOD, 2006, 108 (13) :4202-4204

[10] MOLECULAR AND CYTOGENETIC CHARACTERIZATION OF A T(1-10-21) TRANSLOCATION IN THE HUMAN PAPILLARY THYROID-CANCER CELL-LINE TPC-1 EXPRESSING THE RET/H4 CHIMERIC TRANSCRIPT [J].

JOSSART, GH ;

GREULICH, KM ;

SIPERSTEIN, AE ;

DUH, Q ;

CLARK, OH ;

WEIER, HUG .

SURGERY, 1995, 118 (06) :1018-1023

← 1 2 3 →