Next-Generation Sequencing-Based Panel Testing for Myeloid Neoplasms

被引：24

作者：

Kuo, Frank C. ^{[1
]}

Dong, Fei ^{[1
]}

机构：

[1] Harvard Univ, Sch Med, Brigham & Womens Hosp, Ctr Adv Mol Diagnost,Dept Pathol, Boston, MA 02115 USA

来源：

CURRENT HEMATOLOGIC MALIGNANCY REPORTS | 2015年 / 10卷 / 02期

关键词：

Next-generation sequencing; Myeloid neoplasm; Acute myeloid leukemia; Myelodysplastic syndromes; CHRONIC MYELOMONOCYTIC LEUKEMIA; INTERNAL TANDEM DUPLICATION; MYELODYSPLASTIC SYNDROMES; SOMATIC MUTATIONS; SETBP1; MUTATIONS; MYELOPROLIFERATIVE NEOPLASMS; PROGNOSTIC-SIGNIFICANCE; CLONAL HEMATOPOIESIS; RECURRENT MUTATIONS; DNMT3A MUTATIONS;

D O I：

10.1007/s11899-015-0256-3

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Our ability to interrogate a broad array of genetic alterations in myeloid neoplasm has increased significantly with the advance in next-generation sequencing (NGS). In addition to morphologic examination, flow cytometry, and cytogenetics, NGS-based testing can add additional information to the diagnostic workup. More than a dozen myeloid-focused NGS-based panels are now available from commercial and academic laboratories. In this review, we examine the content of these panels in the context of our current understanding of driver alterations in myeloid neoplasms. With improved turnaround time, decreasing costs, and an expanding knowledge of the therapeutic and prognostic significance of the detected variants, NGS-based panel testing is likely to play a major role in the management of patients with myeloid neoplasm in the coming decade.

引用

页码：104 / 111

页数：8

共 70 条

[1] ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression [J].

Abdel-Wahab, Omar ;

Adli, Mazhar ;

LaFave, Lindsay M. ;

Gao, Jie ;

Hricik, Todd ;

Shih, Alan H. ;

Pandey, Suveg ;

Patel, Jay P. ;

Chung, Young Rock ;

Koche, Richard ;

Perna, Fabiana ;

Zhao, Xinyang ;

Taylor, Jordan E. ;

Park, Christopher Y. ;

Carroll, Martin ;

Melnick, Ari ;

Nimer, Stephen D. ;

Jaffe, Jacob D. ;

Aifantis, Iannis ;

Bernstein, Bradley E. ;

Levine, Ross L. .

CANCER CELL, 2012, 22 (02) :180-193

[2] Identification of novel FLT-3 Asp835 mutations in adult acute myeloid leukaemia [J].

Abu-Duhier, FM ;

Goodeve, AC ;

Wilson, GA ;

Care, RS ;

Peake, IR ;

Reilly, JT .

BRITISH JOURNAL OF HAEMATOLOGY, 2001, 113 (04) :983-988

[3] NOTCH2 and FLT3 gene mis-splicings are common events in patients with acute myeloid leukemia (AML): new potential targets in AML [J].

Adamia, Sophia ;

Bar-Natan, Michal ;

Haibe-Kains, Benjamin ;

Pilarski, Patrick M. ;

Bach, Christian ;

Pevzner, Samuel ;

Calimeri, Teresa ;

Avet-Loiseau, Herve ;

Lode, Laurence ;

Verselis, Sigitas ;

Fox, Edward A. ;

Galinsky, Ilene ;

Mathews, Steven ;

Dagogo-Jack, Ibiayi ;

Wadleigh, Martha ;

Steensma, David P. ;

Motyckova, Gabriela ;

Deangelo, Daniel J. ;

Quackenbush, John ;

Tenen, Daniel G. ;

Stone, Richard M. ;

Griffin, James D. .

BLOOD, 2014, 123 (18) :2816-2825

[4] Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell [J].

Bonnet, D ;

Dick, JE .

NATURE MEDICINE, 1997, 3 (07) :730-737

[5] A Pan-Cancer Analysis of Transcriptome Changes Associated with Somatic Mutations in U2AF1 Reveals Commonly Altered Splicing Events [J].

Brooks, Angela N. ;

Choi, Peter S. ;

de Waal, Luc ;

Sharifnia, Tanaz ;

Imielinski, Marcin ;

Saksena, Gordon ;

Pedamallu, Chandra Sekhar ;

Sivachenko, Andrey ;

Rosenberg, Mara ;

Chmielecki, Juliann ;

Lawrence, Michael S. ;

DeLuca, David S. ;

Getz, Gad ;

Meyerson, Matthew .

PLOS ONE, 2014, 9 (01)

[6] Incidence and prognosis of c-KIT and FLT3 mutations in core binding factor (CBF) acute myeloid leukaemias [J].

Care, RS ;

Valk, PJM ;

Goodeve, AC ;

Abu-Duhier, FM ;

Geertsma-Kleinekoort, WMC ;

Wilson, GA ;

Gari, MA ;

Peake, IR ;

Löwenberg, B ;

Reilly, JT .

BRITISH JOURNAL OF HAEMATOLOGY, 2003, 121 (05) :775-777

[7] Transcriptional diversity during lineage commitment of human blood progenitors [J].

Chen, Lu ;

Kostadima, Myrto ;

Martens, Joost H. A. ;

Canu, Giovanni ;

Garcia, Sara P. ;

Turro, Ernest ;

Downes, Kate ;

Macaulay, Iain C. ;

Bielczyk-Maczynska, Ewa ;

Coe, Sophia ;

Farrow, Samantha ;

Poudel, Pawan ;

Burden, Frances ;

Jansen, Sjoert B. G. ;

Astle, William J. ;

Attwood, Antony ;

Bariana, Tadbir ;

de Bono, Bernard ;

Breschi, Alessandra ;

Chambers, John C. ;

Choudry, Fizzah A. ;

Clarke, Laura ;

Coupland, Paul ;

van der Ent, Martijn ;

Erber, Wendy N. ;

Jansen, Joop H. ;

Favier, Remi ;

Fenech, Matthew E. ;

Foad, Nicola ;

Freson, Kathleen ;

van Geet, Chris ;

Gomez, Keith ;

Guigo, Roderic ;

Hampshire, Daniel ;

Kelly, Anne M. ;

Kerstens, Hindrik H. D. ;

Kooner, Jaspal S. ;

Laffan, Michael ;

Lentaigne, Claire ;

Labalette, Charlotte ;

Martin, Tiphaine ;

Meacham, Stuart ;

Mumford, Andrew ;

Nuernberg, Sylvia ;

Palumbo, Emilio ;

van der Reijden, Bert A. ;

Richardson, David ;

Sammut, Stephen J. ;

Slodkowicz, Greg ;

Tamuri, Asif U. .

SCIENCE, 2014, 345 (6204) :1580-+

[8] TET2 mutation is an unfavorable prognostic factor in acute myeloid leukemia patients with intermediate-risk cytogenetics [J].

Chou, Wen-Chien ;

Chou, Sheng-Chieh ;

Liu, Chieh-Yu ;

Chen, Chien-Yuan ;

Hou, Hsin-An ;

Kuo, Yuan-Yeh ;

Lee, Ming-Cheng ;

Ko, Bor-Sheng ;

Tang, Jih-Luh ;

Yao, Ming ;

Tsay, Woei ;

Wu, Shang-Ju ;

Huang, Shang-Yi ;

Hsu, Szu-Chun ;

Chen, Yao-Chang ;

Chang, Yi-Chang ;

Kuo, Yi-Yi ;

Kuo, Kuan-Ting ;

Lee, Fen-Yu ;

Liu, Ming-Chi ;

Liu, Chia-Wen ;

Tseng, Mei-Hsuan ;

Huang, Chi-Fei ;

Tien, Hwei-Fang .

BLOOD, 2011, 118 (14) :3803-3810

[9] SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias [J].

Damm, F. ;

Itzykson, R. ;

Kosmider, O. ;

Droin, N. ;

Renneville, A. ;

Chesnais, V. ;

Gelsi-Boyer, V. ;

de Botton, S. ;

Vey, N. ;

Preudhomme, C. ;

Clavert, A. ;

Delabesse, E. ;

Park, S. ;

Birnbaum, D. ;

Fontenay, M. ;

Bernard, O. A. ;

Solary, E. .

LEUKEMIA, 2013, 27 (06) :1401-1403

[10] BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders [J].

Damm, Frederik ;

Chesnais, Virginie ;

Nagata, Yasunobu ;

Yoshida, Kenichi ;

Scourzic, Laurianne ;

Okuno, Yusuke ;

Itzykson, Raphael ;

Sanada, Masashi ;

Shiraishi, Yuichi ;

Gelsi-Boyer, Veronique ;

Renneville, Aline ;

Miyano, Satoru ;

Mori, Hiraku ;

Shih, Lee-Yung ;

Park, Sophie ;

Dreyfus, Francois ;

Guerci-Bresler, Agnes ;

Solary, Eric ;

Rose, Christian ;

Cheze, Stephane ;

Prebet, Thomas ;

Vey, Norbert ;

Legentil, Marion ;

Duffourd, Yannis ;

de Botton, Stephane ;

Preudhomme, Claude ;

Birnbaum, Daniel ;

Bernard, Olivier A. ;

Ogawa, Seishi ;

Fontenay, Michaela ;

Kosmider, Olivier .

BLOOD, 2013, 122 (18) :3169-3177

← 1 2 3 4 5 6 7 →