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
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
  • [41] First Korean case of Emberger syndrome (primary lymphedema with myelodysplasia) with a novel GATA2 gene mutation
    Seo, Sang Kyung
    Kim, Kyu Yeun
    Han, Seo Ae
    Yoon, Joon Seok
    Shin, Sang-Yong
    Sohn, Sang Kyun
    Moon, Joon Ho
    KOREAN JOURNAL OF INTERNAL MEDICINE, 2016, 31 (01) : 188 - 190
  • [42] Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival
    Boedoer, Csaba
    Renneville, Aline
    Smith, Matthew
    Charazac, Aurrlie
    Iqbal, Sameena
    Etancelin, Pascaline
    Cavenagh, Jamie
    Barnett, Michael J.
    Kramarzova, Karolina
    Krishnan, Biju
    Matolcsy, Andras
    Preudhomme, Claude
    Fitzgibbon, Jude
    Owen, Carolyn
    HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (06): : 890 - 894
  • [43] Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency
    Nichols-Vinueza, Diana X.
    Parta, Mark
    Shah, Nirali N.
    Cuella-Rodriguez, Jennifer M.
    Bauer, Thomas R., Jr.
    West, Robert R.
    Hsu, Amy P.
    Calvo, Katherine R.
    Steinberg, Seth M.
    Notarangelo, Luigi D.
    Holland, Steven M.
    Hickstein, Dennis D.
    BRITISH JOURNAL OF HAEMATOLOGY, 2022, 196 (01) : 169 - 178
  • [44] GATA2 regulates differentiation of bone marrow-derived mesenchymal stem cells
    Kamata, Mayumi
    Okitsu, Yoko
    Fujiwara, Tohru
    Kanehira, Masahiko
    Nakajima, Shinji
    Takahashi, Taro
    Inoue, Ai
    Fukuhara, Noriko
    Onishi, Yasushi
    Ishizawa, Kenichi
    Shimizu, Ritsuko
    Yamamoto, Masayuki
    Harigae, Hideo
    HAEMATOLOGICA, 2014, 99 (11) : 1686 - 1696
  • [45] Humoral deficiency in a novel GATA2 mutation: A new clinical presentation successfully treated with hematopoietic stem cell transplantation
    Portich, Julia Plentz
    Condino Neto, Antonio
    Faulhaber, Gustavo Adolpho Moreira
    PEDIATRIC BLOOD & CANCER, 2020, 67 (09)
  • [46] GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis
    Fasan, A.
    Eder, C.
    Haferlach, C.
    Grossmann, V.
    Kohlmann, A.
    Dicker, F.
    Kern, W.
    Haferlach, T.
    Schnittger, S.
    LEUKEMIA, 2013, 27 (02) : 482 - 485
  • [47] Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells
    Schlums, Heinrich
    Jung, Moonjung
    Han, Hongya
    Theorell, Jakob
    Bigley, Venetia
    Chiang, Samuel C. C.
    Allan, David S. J.
    Davidson-Moncada, Jan K.
    Dickinson, Rachel E.
    Holmes, Tim D.
    Hsu, Amy P.
    Townsley, Danielle
    Winkler, Thomas
    Wang, Weixin
    Aukrust, Pal
    Nordoy, Ingvild
    Calvo, Katherine R.
    Holland, Steve M.
    Collin, Matthew
    Dunbar, Cynthia E.
    Bryceson, Yenan T.
    BLOOD, 2017, 129 (14) : 1927 - 1939
  • [48] Fifty Shades of GATA2 Mutation: A Case of Plasmablastic Lymphoma, Nontuberculous Mycobacterial Infection, and Myelodysplastic Syndrome
    Fakhri, Bita
    Cashen, Amanda F.
    Duncavage, Eric J.
    Watkins, Marcus P.
    Wartman, Lukas D.
    Bartlett, Nancy L.
    CLINICAL LYMPHOMA MYELOMA & LEUKEMIA, 2019, 19 (09) : E532 - E535
  • [49] Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes
    Sahoo, Sushree S.
    Kozyra, Emilia J.
    Wlodarski, Marcin W.
    BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY, 2020, 33 (03)
  • [50] RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML
    Brown, Anna L.
    Arts, Peer
    Carmichael, Catherine L.
    Babic, Milena
    Dobbins, Julia
    Chong, Chan-Eng
    Schreiber, Andreas W.
    Feng, Jinghua
    Phillips, Kerry
    Wang, Paul P. S.
    Thuong Ha
    Homan, Claire C.
    King-Smith, Sarah L.
    Rawlings, Lesley
    Vakulin, Cassandra
    Dubowsky, Andrew
    Burdett, Jessica
    Moore, Sarah
    McKavanagh, Grace
    Henry, Denae
    Wells, Amanda
    Mercorella, Belinda
    Nicola, Mario
    Suttle, Jeffrey
    Wilkins, Ella
    Li, Xiao-Chun
    Michaud, Joelle
    Brautigan, Peter
    Cannon, Ping
    Altree, Meryl
    Jaensch, Louise
    Fine, Miriam
    Butcher, Carolyn
    D'Andrea, Richard J.
    Lewis, Ian D.
    Hiwase, Devendra K.
    Papaemmanuil, Elli
    Horwitz, Marshall S.
    Natsoulis, Georges
    Rienhoff, Hugh Y., Jr.
    Patton, Nigel
    Mapp, Sally
    Susman, Rachel
    Morgan, Susan
    Cooney, Julian
    Currie, Mark
    Popat, Uday
    Bochtler, Tilmann
    Izraeli, Shai
    Bradstock, Kenneth
    BLOOD ADVANCES, 2020, 4 (06) : 1131 - 1144