Cooccurring JAK2 V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms

被引：6

作者：

Mambet, Cristina ^{[1
,2
,3
]}

Babosova, Olga ^{[4
]}

Defour, Jean-Philippe ^{[2
,5
]}

Leroy, Emilie ^{[1
,2
]}

Necula, Laura ^{[3
]}

Stanca, Oana ^{[6
,7
]}

Tatic, Aurelia ^{[7
,8
]}

Berbec, Nicoleta ^{[6
,7
]}

Coriu, Daniel ^{[7
,8
]}

Belickova, Monika ^{[9
]}

Kralova, Barbora ^{[10
]}

Lanikova, Lucie ^{[4
]}

Vesela, Jitka ^{[9
]}

Pecquet, Christian ^{[1
,2
]}

Saussoy, Pascale ^{[5
]}

Havelange, Violaine ^{[11
]}

Diaconu, Carmen C. ^{[3
]}

Divoky, Vladimir ^{[10
]}

Constantinescu, Stefan N. ^{[1
,2
,3
]}

机构：

[1] Ludwig Inst Canc Res, Brussels Branch, Brussels, Belgium

[2] Catholic Univ Louvain, de Duve Inst, Brussels, Belgium

[3] Stefan S Nicolau Inst Virol, Mol Profiling Myeloproliferat Neoplasms & Acute L, Bucharest, Romania

[4] Acad Sci Czech Republ, Inst Mol Genet, Dept Cell & Dev Biol, Prague, Czech Republic

[5] Catholic Univ Louvain, Clin Univ St Luc, Dept Biol Clin, Brussels, Belgium

[6] Coltea Clin Hosp, Dept Hematol, Bucharest, Romania

[7] Carol Davila Univ Med & Pharm, Dept Radiol Oncol & Hematol, Bucharest, Romania

[8] Fundeni Clin Inst, Ctr Hematol & Bone Marrow Transplantat, Bucharest, Romania

[9] Inst Hematol & Blood Transfus, Prague, Czech Republic

[10] Palacky Univ, Fac Med & Dent, Dept Biol, Hnevotinska 3, CZ-77515 Olomouc, Czech Republic

[11] Clin Univ St Luc, Serv Hematol, Brussels, Belgium

来源：

BLOOD | 2018年 / 132卷 / 25期

关键词：

ESSENTIAL THROMBOCYTHEMIA; POLYCYTHEMIA-VERA;

D O I：

10.1182/blood-2018-04-843060

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：2695 / 2699

页数：7

共 15 条

[1] The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia [J].

Arber, Daniel A. ;

Orazi, Attilio ;

Hasserjian, Robert ;

Thiele, Jurgen ;

Borowitz, Michael J. ;

Le Beau, Michelle M. ;

Bloomfield, Clara D. ;

Cazzola, Mario ;

Vardiman, James W. .

BLOOD, 2016, 127 (20) :2391-2405

[2] Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status:: a prospective study [J].

Campbell, PJ ;

Scott, LM ;

Buck, G ;

Wheatley, K ;

East, CL ;

Marsden, JT ;

Duffy, A ;

Boyd, EM ;

Bench, AJ ;

Scott, MA ;

Vassiliou, GS ;

Milligan, DW ;

Smith, SR ;

Erber, WN ;

Bareford, D ;

Wilkins, BS ;

Reilly, JT ;

Harrison, CN ;

Green, AR .

LANCET, 2005, 366 (9501) :1945-1953

[3] Rare and Common Germline Variants Contribute to Occurrence of Myelodysplastic Syndrome [J].

Hahn, Christopher N. ;

Babic, Milena ;

Schreiber, Andreas W. ;

Kutyna, Monika M. ;

Wee, L. Amilia ;

Brown, Anna L. ;

Perugini, Michelle ;

Singhal, Deepak ;

Hiwase, Smita ;

Feng, Jinghua ;

Parker, Wendy T. ;

Moore, Sarah ;

Bardy, Peter G. ;

Saal, Russell ;

Marlton, Paula ;

Moore, Andrew S. ;

Gonda, Thomas J. ;

Leo, Paul ;

Branford, Susan ;

DAndrea, Richard J. ;

Lewis, Ian D. ;

Bik, Luen ;

Scott, Harnish S. ;

Hiwase, Devendra .

BLOOD, 2015, 126 (23)

[4] Role of Germ line Genetic Factors in MPN Pathogenesis [J].

Harutyunyan, Ashot S. ;

Kralovics, Robert .

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA, 2012, 26 (05) :1037-+

[5] Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia [J].

Kapralova, Katarina ;

Horvathova, Monika ;

Pecquet, Christian ;

Kucerova, Jana Fialova ;

Pospisilova, Dagmar ;

Leroy, Emilie ;

Kralova, Barbora ;

Feenstra, Jelena D. Milosevic ;

Schischlik, Fiorella ;

Kralovics, Robert ;

Constantinescu, Stefan N. ;

Divoky, Vladimir .

BLOOD, 2016, 128 (10) :1418-1423

[6] Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera [J].

Lanikova, Lucie ;

Babosova, Olga ;

Swierczek, Sabina ;

Wang, Linghua ;

Wheeler, David A. ;

Divoky, Vladimir ;

Korinek, Vladimir ;

Prchal, Josef T. .

BLOOD, 2016, 128 (18) :2266-+

[7] Whole-exome sequencing in evaluation of patients with venous thromboembolism [J].

Lee, Eun-Ju ;

Dykas, Daniel J. ;

Leavitt, Andrew D. ;

Camire, Rodney M. ;

Ebberink, Eduard ;

de Frutos, Pablo Garcia ;

Gnanasambandan, Kavitha ;

Gu, Sean X. ;

Huntington, James A. ;

Lentz, Steven R. ;

Mertens, Koen ;

Parish, Christopher R. ;

Rezaie, Alireza R. ;

Sayeski, Peter P. ;

Cromwell, Caroline ;

Bar, Noffar ;

Halene, Stephanie ;

Neparidze, Natalia ;

Parker, Terri L. ;

Burns, Adrienne J. ;

Dumont, Anne ;

Yao, Xiaopan ;

Chaar, Cassius Iyad Ochoa ;

Connors, Jean M. ;

Bale, Allen E. ;

Lee, Alfred Ian .

BLOOD ADVANCES, 2017, 1 (16) :1224-1237

[8] Analysis of protein-coding genetic variation in 60,706 humans [J].

Lek, Monkol ;

Karczewski, Konrad J. ;

Minikel, Eric V. ;

Samocha, Kaitlin E. ;

Banks, Eric ;

Fennell, Timothy ;

O'Donnell-Luria, Anne H. ;

Ware, James S. ;

Hill, Andrew J. ;

Cummings, Beryl B. ;

Tukiainen, Taru ;

Birnbaum, Daniel P. ;

Kosmicki, Jack A. ;

Duncan, Laramie E. ;

Estrada, Karol ;

Zhao, Fengmei ;

Zou, James ;

Pierce-Hollman, Emma ;

Berghout, Joanne ;

Cooper, David N. ;

Deflaux, Nicole ;

DePristo, Mark ;

Do, Ron ;

Flannick, Jason ;

Fromer, Menachem ;

Gauthier, Laura ;

Goldstein, Jackie ;

Gupta, Namrata ;

Howrigan, Daniel ;

Kiezun, Adam ;

Kurki, Mitja I. ;

Moonshine, Ami Levy ;

Natarajan, Pradeep ;

Orozeo, Lorena ;

Peloso, Gina M. ;

Poplin, Ryan ;

Rivas, Manuel A. ;

Ruano-Rubio, Valentin ;

Rose, Samuel A. ;

Ruderfer, Douglas M. ;

Shakir, Khalid ;

Stenson, Peter D. ;

Stevens, Christine ;

Thomas, Brett P. ;

Tiao, Grace ;

Tusie-Luna, Maria T. ;

Weisburd, Ben ;

Won, Hong-Hee ;

Yu, Dongmei ;

Altshuler, David M. .

NATURE, 2016, 536 (7616) :285-+

[9] Uncoupling JAK2 V617F activation from cytokine-induced signalling by modulation of JH2 αC helix [J].

Leroy, Emilie ;

Dusa, Alexandra ;

Colau, Didier ;

Motamedi, Amir ;

Cahu, Xavier ;

Mouton, Celine ;

Huang, Lily J. ;

Shiau, Andrew K. ;

Constantinescu, Stefan N. .

BIOCHEMICAL JOURNAL, 2016, 473 :1579-1591

[10] Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis [J].

Levine, RL ;

Wadleigh, M ;

Cools, J ;

Ebert, BL ;

Wernig, G ;

Huntly, BJP ;

Boggon, TJ ;

Wlodarska, L ;

Clark, JJ ;

Moore, S ;

Adelsperger, J ;

Koo, S ;

Lee, JC ;

Gabriel, S ;

Mercher, T ;

D'Andrea, A ;

Fröhling, S ;

Döhner, K ;

Marynen, P ;

Vandenberghe, P ;

Mesa, RA ;

Tefferi, A ;

Griffin, JD ;

Eck, MJ ;

Sellers, WR ;

Meyerson, M ;

Golub, TR ;

Lee, SJ ;

Gilliland, DG .

CANCER CELL, 2005, 7 (04) :387-397

← 1 2 →