Donor-derived MDS/AML in families with germline GATA2 mutation

被引：48
|
作者：
Galera, Pallavi [1 ]
Hsu, Amy P. [2 ]
Wang, Weixin [1 ]
Droll, Stephenie [1 ]
Chen, Rui [1 ,3 ]
Schwartz, Jason R. [4 ]
Klco, Jeffery M. [4 ]
Arai, Sally [5 ]
Maese, Luke [6 ]
Zerbe, Christa [2 ]
Parta, Mark J. [7 ]
Young, Neal S. [8 ]
Holland, Steven M. [2 ]
Hickstein, Dennis D. [9 ]
Calvo, Katherine R. [1 ]
机构：
[1] NIH, Hematol Sect, Dept Lab Med, Ctr Clin, 10 Ctr Dr,Bldg 10,Room 2C306, Bethesda, MD 20892 USA
[2] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
[3] Capital Med Univ, Beijing TongRen Hosp, Dept Lab Med, Beijing, Peoples R China
[4] St Jude Res Hosp, Dept Pathol, Memphis, TN USA
[5] Stanford Univ, Dept Med, Blood & Marrow Transplant Program, Stanford, CA 94305 USA
[6] Univ Utah, Primary Childrens Med Ctr, Pediat Hematol Oncol, Salt Lake City, UT USA
[7] NCI, Clin Res Directorate, Clin Monitoring Res Program, Frederick Natl Lab Canc Res, Frederick, MD 21701 USA
[8] NHLBI, Hematol Branch, Bldg 10, Bethesda, MD 20892 USA
[9] NCI, Expt Transplantat & Immunol Branch, NIH, Bethesda, MD 20892 USA
来源：
BLOOD | 2018年 / 132卷 / 18期
基金：
美国国家卫生研究院;
关键词：
ACUTE MYELOID-LEUKEMIA; STEM-CELL TRANSPLANTATION; MONOMAC SYNDROME; SPORADIC MONOCYTOPENIA; AUTOSOMAL-DOMINANT; APLASTIC-ANEMIA; DEFICIENCY; DISORDER; MYELODYSPLASIA; PREDISPOSITION;
D O I：
10.1182/blood-2018-07-861070
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1994 / 1998
页数：5
相关论文
共 50 条
  • [1] Germline GATA2 Mutation and Bone Marrow Failure
    McReynolds, Lisa J.
    Calvo, Katherine R.
    Holland, Steven M.
    HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA, 2018, 32 (04) : 713 - +
  • [2] GATA2 mutations lead to MDS and AML
    Hyde, R. Katherine
    Liu, P. Paul
    NATURE GENETICS, 2011, 43 (10) : 926 - 927
  • [3] A patient with a germline GATA2 mutation and primary myelofibrosis
    Rutsche, Cyrill, V
    Haralambieva, Eugenia
    Lysenko, Veronika
    Balabanov, Stefan
    Theocharides, Alexandre P. A.
    BLOOD ADVANCES, 2021, 5 (03) : 791 - 795
  • [4] GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects
    Kotmayer, Lili
    Romero-Moya, Damia
    Marin-Bejar, Oskar
    Kozyra, Emilia
    Catala, Albert
    Bigas, Anna
    Wlodarski, Marcin W.
    Bodor, Csaba
    Giorgetti, Alessandra
    BRITISH JOURNAL OF HAEMATOLOGY, 2022, 199 (04) : 482 - 495
  • [5] Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
    Kazenwadel, Jan
    Secker, Genevieve A.
    Liu, Yajuan J.
    Rosenfeld, Jill A.
    Wildin, Robert S.
    Cuellar-Rodriguez, Jennifer
    Hsu, Amy P.
    Dyack, Sarah
    Fernandez, Conrad V.
    Chong, Chan-Eng
    Babic, Milena
    Bardy, Peter G.
    Shimamura, Akiko
    Zhang, Michael Y.
    Walsh, Tom
    Holland, Steven M.
    Hickstein, Dennis D.
    Horwitz, Marshall S.
    Hahn, Christopher N.
    Scott, Hamish S.
    Harvey, Natasha L.
    BLOOD, 2012, 119 (05) : 1283 - 1291
  • [6] MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations
    McReynolds, Lisa J.
    Yang, Yanqin
    Wong, Hong Yuen
    Tang, Jingrong
    Zhang, Yubo
    Mule, Matthew P.
    Daub, Janine
    Palmer, Cindy
    Foruraghi, Ladan
    Liu, Qingguo
    Zhu, Jun
    Wang, Weixin
    West, Robert R.
    Yohe, Marielle E.
    Hsu, Amy P.
    Hickstein, Dennis D.
    Townsley, Danielle M.
    Holland, Steven M.
    Calvo, Katherine R.
    Hourigan, Christopher S.
    LEUKEMIA RESEARCH, 2019, 76 : 70 - 75
  • [7] Multiple Opportunistic Infections in a Woman with GATA2 Mutation
    Vila, Andrea
    Dapas, Juan I.
    Rivero, Cynthia V.
    Bocanegra, Florencia
    Furnari, Roberto F.
    Hsu, Amy P.
    Holland, Steven M.
    INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES, 2017, 54 : 89 - 91
  • [8] Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature
    Gao, Juehua
    Gentzler, Ryan D.
    Timms, Andrew E.
    Horwitz, Marshall S.
    Frankfurt, Olga
    Altman, Jessica K.
    Peterson, LoAnn C.
    JOURNAL OF HEMATOLOGY & ONCOLOGY, 2014, 7
  • [9] The evolution of cellular deficiency in GATA2 mutation
    Dickinson, Rachel E.
    Milne, Paul
    Jardine, Laura
    Zandi, Sasan
    Swierczek, Sabina I.
    McGovern, Naomi
    Cookson, Sharon
    Ferozepurwalla, Zaveyna
    Langridge, Alexander
    Pagan, Sarah
    Gennery, Andrew
    Heiskanen-Kosma, Tarja
    Hamalainen, Sari
    Seppanen, Mikko
    Helbert, Matthew
    Tholouli, Eleni
    Gambineri, Eleonora
    Reykdal, Sigrun
    Gottfredsson, Magnus
    Thaventhiran, James E.
    Morris, Emma
    Hirschfield, Gideon
    Richter, Alex G.
    Jolles, Stephen
    Bacon, Chris M.
    Hambleton, Sophie
    Haniffa, Muzlifah
    Bryceson, Yenan
    Allen, Carl
    Prchal, Josef T.
    Dick, John E.
    Bigley, Venetia
    Collin, Matthew
    BLOOD, 2014, 123 (06) : 863 - 874
  • [10] GATA2 Germline Mutations Impair GATA2 Transcription, Causing Haploinsufficiency: Functional Analysis of the p.Arg396Gln Mutation
    Cortes-Lavaud, Xabier
    Landecho, Manuel F.
    Maicas, Miren
    Urquiza, Leire
    Merino, Juana
    Moreno-Miralles, Isabel
    Odero, Maria D.
    JOURNAL OF IMMUNOLOGY, 2015, 194 (05) : 2190 - 2198
12345