Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression

被引：50

作者：

Pellagatti, A. ^{[1
]}

Roy, S. ^{[1
]}

Di Genua, C. ^{[1
]}

Burns, A. ^{[2
]}

McGraw, K. ^{[3
]}

Valletta, S. ^{[1
]}

Larrayoz, M. J. ^{[4
]}

Fernandez-Mercado, M. ^{[1
]}

Mason, J. ^{[2
]}

Killick, S. ^{[5
]}

Mecucci, C. ^{[6
]}

Calasanz, M. J. ^{[4
]}

List, A. ^{[3
]}

Schuh, A. ^{[2
]}

Boultwood, J. ^{[1
]}

机构：

[1] Univ Oxford, Radcliffe Dept Med, Nuffield Div Clin Lab Sci, LLR Mol Haematol Unit, Oxford, England

[2] Univ Oxford, NIHR Biomed Res Ctr, Oxford, England

[3] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA

[4] Univ Navarra, Dept Genet, E-31080 Pamplona, Spain

[5] Royal Bournemouth Hosp, Dept Haematol, Bournemouth, Dorset, England

[6] Univ Perugia, Hematol & Bone Marrow Transplantat Unit, I-06100 Perugia, Italy

来源：

LEUKEMIA | 2016年 / 30卷 / 01期

关键词：

CLONAL HEMATOPOIESIS; MUTATIONS;

D O I：

10.1038/leu.2015.129

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：247 / 250

页数：5

共 15 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] Clinical Effect of Point Mutations in Myelodysplastic Syndromes [J].

Bejar, Rafael ;

Stevenson, Kristen ;

Abdel-Wahab, Omar ;

Galili, Naomi ;

Nilsson, Bjoern ;

Garcia-Manero, Guillermo ;

Kantarjian, Hagop ;

Raza, Azra ;

Levine, Ross L. ;

Neuberg, Donna ;

Ebert, Benjamin L. .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 364 (26) :2496-2506

[3] The genetic basis of myelodysplasia and its clinical relevance [J].

Cazzola, Mario ;

Della Porta, Matteo G. ;

Malcovati, Luca .

BLOOD, 2013, 122 (25) :4021-4034

[4] Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes [J].

Fernandez-Mercado, Marta ;

Burns, Adam ;

Pellagatti, Andrea ;

Giagounidis, Aristoteles ;

Germing, Ulrich ;

Agirre, Xabier ;

Prosper, Felipe ;

Aul, Carlo ;

Killick, Sally ;

Wainscoat, James S. ;

Schuh, Anna ;

Boultwood, Jacqueline .

HAEMATOLOGICA, 2013, 98 (12) :1856-1864

[5] Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence [J].

Genovese, Giulio ;

Kaehler, Anna K. ;

Handsaker, Robert E. ;

Lindberg, Johan ;

Rose, Samuel A. ;

Bakhoum, Samuel F. ;

Chambert, Kimberly ;

Mick, Eran ;

Neale, Benjamin M. ;

Fromer, Menachem ;

Purcell, Shaun M. ;

Svantesson, Oscar ;

Landen, Mikael ;

Hoeglund, Martin ;

Lehmann, Soeren ;

Gabriel, Stacey B. ;

Moran, Jennifer L. ;

Lander, Eric S. ;

Sullivan, Patrick F. ;

Sklar, Pamela ;

Groenberg, Henrik ;

Hultman, Christina M. ;

McCarroll, Steven A. .

NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (26) :2477-2487

[6] Landscape of genetic lesions in 944 patients with myelodysplastic syndromes [J].

Haferlach, T. ;

Nagata, Y. ;

Grossmann, V. ;

Okuno, Y. ;

Bacher, U. ;

Nagae, G. ;

Schnittger, S. ;

Sanada, M. ;

Kon, A. ;

Alpermann, T. ;

Yoshida, K. ;

Roller, A. ;

Nadarajah, N. ;

Shiraishi, Y. ;

Shiozawa, Y. ;

Chiba, K. ;

Tanaka, H. ;

Koeffler, H. P. ;

Klein, H-U ;

Dugas, M. ;

Aburatani, H. ;

Kohlmann, A. ;

Miyano, S. ;

Haferlach, C. ;

Kern, W. ;

Ogawa, S. .

LEUKEMIA, 2014, 28 (02) :241-247

[7] Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes [J].

Jaiswal, Siddhartha ;

Fontanillas, Pierre ;

Flannick, Jason ;

Manning, Alisa ;

Grauman, Peter V. ;

Mar, Brenton G. ;

Lindsley, R. Coleman ;

Mermel, Craig H. ;

Burtt, Noel ;

Chavez, Alejandro ;

Higgins, John M. ;

Moltchanov, Vladislav ;

Kuo, Frank C. ;

Kluk, Michael J. ;

Henderson, Brian ;

Kinnunen, Leena ;

Koistinen, Heikki A. ;

Ladenvall, Claes ;

Getz, Gad ;

Correa, Adolfo ;

Banahan, Benjamin F. ;

Gabriel, Stacey ;

Kathiresan, Sekar ;

Stringham, Heather M. ;

McCarthy, Mark I. ;

Boehnke, Michael ;

Tuomilehto, Jaakko ;

Haiman, Christopher ;

Groop, Leif ;

Atzmon, Gil ;

Wilson, James G. ;

Neuberg, Donna ;

Altshuler, David ;

Ebert, Benjamin L. .

NEW ENGLAND JOURNAL OF MEDICINE, 2014, 371 (26) :2488-2498

[8] Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms [J].

Malcovati, Luca ;

Papaemmanuil, Elli ;

Bowen, David T. ;

Boultwood, Jacqueline ;

Della Porta, Matteo G. ;

Pascutto, Cristiana ;

Travaglino, Erica ;

Groves, Michael J. ;

Godfrey, Anna L. ;

Ambaglio, Ilaria ;

Galli, Anna ;

Da Via, Matteo C. ;

Conte, Simona ;

Tauro, Sudhir ;

Keenan, Norene ;

Hyslop, Ann ;

Hinton, Jonathan ;

Mudie, Laura J. ;

Wainscoat, James S. ;

Futreal, P. Andrew ;

Stratton, Michael R. ;

Campbell, Peter J. ;

Hellstrom-Lindberg, Eva ;

Cazzola, Mario .

BLOOD, 2011, 118 (24) :6239-6246

[9] Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome [J].

Mian, Syed A. ;

Smith, Alexander E. ;

Kulasekararaj, Austin G. ;

Kizilors, Aytug ;

Mohamedali, Azim M. ;

Lea, Nicholas C. ;

Mitsopoulos, Konstantinos ;

Ford, Kevin ;

Nasser, Erick ;

Seidl, Thomas ;

Mufti, Ghulam J. .

HAEMATOLOGICA, 2013, 98 (07) :1058-1066

[10] Clinical and biological implications of driver mutations in myelodysplastic syndromes [J].

Papaemmanuil, Elli ;

Gerstung, Moritz ;

Malcovati, Luca ;

Tauro, Sudhir ;

Gundem, Gunes ;

Van Loo, Peter ;

Yoon, Chris J. ;

Ellis, Peter ;

Wedge, David C. ;

Pellagatti, Andrea ;

Shlien, Adam ;

Groves, Michael John ;

Forbes, Simon A. ;

Raine, Keiran ;

Hinton, Jon ;

Mudie, Laura J. ;

McLaren, Stuart ;

Hardy, Claire ;

Latimer, Calli ;

Della Porta, Matteo G. ;

O'Meara, Sarah ;

Ambaglio, Ilaria ;

Galli, Anna ;

Butler, Adam P. ;

Walldin, Gunilla ;

Teague, Jon W. ;

Quek, Lynn ;

Sternberg, Alex ;

Gambacorti-Passerini, Carlo ;

Cross, Nicholas C. P. ;

Green, Anthony R. ;

Boultwood, Jacqueline ;

Vyas, Paresh ;

Hellstrom-Lindberg, Eva ;

Bowen, David ;

Cazzola, Mario ;

Stratton, Michael R. ;

Campbell, Peter J. .

BLOOD, 2013, 122 (22) :3616-3627

← 1 2 →