Genomic landscape of Waldenstrom's macroglobulinemia

被引:1
作者
Treon, Steven P. [1 ,2 ]
Hunter, Zachary R. [1 ,2 ]
Branagan, Andrew R. [2 ,3 ]
Castillo, Jorge J. [1 ,2 ]
机构
[1] Dana Farber Canc Inst, Bing Ctr Waldenstroms Macroglobulinemia, Boston, MA 02215 USA
[2] Harvard Med Sch, Dept Med, Boston, MA 02215 USA
[3] Massachusetts Gen Hosp, Div Hematol Oncol, Boston, MA 02114 USA
关键词
MYD88 L265P MUTATION; SURVIVAL; PROGRESSION; RESISTANCE; IBRUTINIB; RISK;
D O I
10.1097/HS9.0000000000000228
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Take home messages Next-generation sequencing has revealed recurring somatic mutations in Waldenstrom's Macroglobulinemia that include MYD88 (95%-97%), CXCR4 (30%-40%), ARID1A (17%) and CD79B (8%-15%). Deletions involving chromosome 6q are common in MYD88 mutated patients, and include genes that modulate NFKB, BCL2, BTK, and apoptosis. Wild-type MYD88 Waldenstrom's Macroglobulinemia (WM) patients show an increased risk of transformation and death, and exhibit many mutations found in diffuse large B-cell lymphoma. Response to the BTK inhibitor ibrutinib is impacted by both MYD88 and CXCR4 mutation status in WM.
引用
收藏
页码:58 / 61
页数:4
相关论文
共 21 条
[1]   CXCR4 WHIM-like frameshift and nonsense mutations promote ibrutinib resistance but do not supplant MYD88L265P-directed survival signalling in Waldenstrom macroglobulinaemia cells [J].
Cao, Yang ;
Hunter, Zachary R. ;
Liu, Xia ;
Xu, Lian ;
Yang, Guang ;
Chen, Jie ;
Tsakmaklis, Nickolas ;
Kanan, Sandra ;
Castillo, Jorge J. ;
Treon, Steven P. .
BRITISH JOURNAL OF HAEMATOLOGY, 2015, 168 (05) :701-707
[2]   Phase 3 Trial of Ibrutinib plus Rituximab in Waldenstrom's Macroglobulinemia [J].
Dimopoulos, M. A. ;
Tedeschi, A. ;
Trotman, J. ;
Garcia-Sanz, R. ;
Macdonald, D. ;
Leblond, V. ;
Mahe, B. ;
Herbaux, C. ;
Tam, C. ;
Orsucci, L. ;
Palomba, M. L. ;
Matous, J. V. ;
Shustik, C. ;
Kastritis, E. ;
Treon, S. P. ;
Li, J. ;
Salman, Z. ;
Graef, T. ;
Buske, C. .
NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (25) :2399-2410
[3]   MYD88 mutated and wild-type Waldenstrom's Macroglobulinemia: characterization of chromosome 6q gene losses and their mutual exclusivity with mutations in CXCR4 [J].
Guerrera, Maria Luisa ;
Tsakmaklis, Nickolas ;
Xu, Lian ;
Yang, Guang ;
Demos, Maria ;
Kofides, Amanda ;
Chan, Gloria G. ;
Manning, Robert J. ;
Liu, Xia ;
Chen, Jiaji G. ;
Munshi, Manit ;
Patterson, Christopher J. ;
Castillo, Jorge J. ;
Dubeau, Toni ;
Gustine, Joshua ;
Carrasco, Ruben D. ;
Arcaini, Luca ;
Varettoni, Marzia ;
Cazzola, Mario ;
Treon, Steven P. ;
Hunter, Zachary R. .
HAEMATOLOGICA, 2018, 103 (09) :E408-E411
[4]   Insights into the genomic landscape of MYD88 wild-type Waldenstrom macroglobulinemia [J].
Hunter, Zachary R. ;
Xu, Lian ;
Tsakmaklis, Nickolas ;
Demos, Maria G. ;
Kofides, Amanda ;
Jimenez, Cristina ;
Chan, Gloria G. ;
Chen, Jiaji ;
Liu, Xia ;
Munshi, Manit ;
Gustine, Joshua ;
Meid, Kirsten ;
Patterson, Christopher J. ;
Yang, Guang ;
Dubeau, Toni ;
Samur, Mehmet K. ;
Castillo, Jorge J. ;
Anderson, Kenneth C. ;
Munshi, Nikhil C. ;
Treon, Steven P. .
BLOOD ADVANCES, 2018, 2 (21) :2937-2946
[5]   Genomics, Signaling, and Treatment of Waldenstrom Macroglobulinemia [J].
Hunter, Zachary R. ;
Yang, Guang ;
Xu, Lian ;
Liu, Xia ;
Castillo, Jorge J. ;
Treon, Steven P. .
JOURNAL OF CLINICAL ONCOLOGY, 2017, 35 (09) :994-1001
[6]   MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenstrom's macroglobulinemia [J].
Jimenez, C. ;
Sebastian, E. ;
Chillon, M. C. ;
Giraldo, P. ;
Hernandez, J. Mariano ;
Escalante, F. ;
Gonzalez-Lopez, T. J. ;
Aguilera, C. ;
de Coca, A. G. ;
Murillo, I. ;
Alcoceba, M. ;
Balanzategui, A. ;
Sarasquete, M. E. ;
Corral, R. ;
Marin, L. A. ;
Paiva, B. ;
Ocio, E. M. ;
Gutierrez, N. C. ;
Gonzalez, M. ;
Miguel, J. F. San ;
Garcia-Sanz, R. .
LEUKEMIA, 2013, 27 (08) :1722-1728
[7]  
Munshi M, 2018, P AM SOC HEM
[8]   Oncogenically active MYD88 mutations in human lymphoma [J].
Ngo, Vu N. ;
Young, Ryan M. ;
Schmitz, Roland ;
Jhavar, Sameer ;
Xiao, Wenming ;
Lim, Kian-Huat ;
Kohlhammer, Holger ;
Xu, Weihong ;
Yang, Yandan ;
Zhao, Hong ;
Shaffer, Arthur L. ;
Romesser, Paul ;
Wright, George ;
Powell, John ;
Rosenwald, Andreas ;
Muller-Hermelink, Hans Konrad ;
Ott, German ;
Gascoyne, Randy D. ;
Connors, Joseph M. ;
Rimsza, Lisa M. ;
Campo, Elias ;
Jaffe, Elaine S. ;
Delabie, Jan ;
Smeland, Erlend B. ;
Fisher, Richard I. ;
Braziel, Rita M. ;
Tubbs, Raymond R. ;
Cook, J. R. ;
Weisenburger, Denny D. ;
Chan, Wing C. ;
Staudt, Louis M. .
NATURE, 2011, 470 (7332) :115-U133
[9]  
Owen R, 2018, P 23 C EUR HEM ASS
[10]   MYD88 L265P mutation in Waldenstrom macroglobulinemia [J].
Poulain, Stephanie ;
Roumier, Christophe ;
Decambron, Audrey ;
Renneville, Aline ;
Herbaux, Charles ;
Bertrand, Elisabeth ;
Tricot, Sabine ;
Daudignon, Agnes ;
Galiegue-Zouitina, Sylvie ;
Soenen, Valerie ;
Theisen, Olivier ;
Grardel, Nathalie ;
Nibourel, Olivier ;
Roche-Lestienne, Catherine ;
Quesnel, Bruno ;
Duthilleul, Patrick ;
Preudhomme, Claude ;
Leleu, Xavier .
BLOOD, 2013, 121 (22) :4504-4511