GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

被引:52
作者
Al Seraihi, Ahad F. [1 ]
Rio-Machin, Ana [1 ]
Tawana, Kiran [1 ]
Bodor, Csaba [2 ]
Wang, Jun [3 ]
Nagano, Ai [3 ]
Heward, James A. [1 ]
Iqbal, Sameena [1 ]
Beset, Steven [4 ]
Lea, Nicholas [4 ]
McLornan, Donal [5 ]
Kozyra, Emilia J. [6 ,7 ]
Wlodarski, Marcin W. [7 ]
Niemeyer, Charlotte M. [7 ]
Scott, Hamish [8 ]
Hahn, Chris [8 ]
Ellison, Alicia [9 ]
Tummala, Hemanth [9 ]
Cardoso, Shirleny Romualdo [9 ]
Vulliamy, Tom [9 ]
Dokal, Inderjeet [9 ]
Butler, Tom [10 ]
Smith, Matthew [10 ]
Cavenagh, Jamie [10 ]
Fitzgibbon, Jude [1 ]
机构
[1] Queen Mary Univ London, Ctr Haematooncol, Barts Canc Inst, London, England
[2] Semmelweis Univ, MTA SE Lendulet Mol Oncohematol Res Grp, Dept Pathol & Expt Canc Res 1, Budapest, Hungary
[3] Queen Mary Univ London, Ctr Mol Oncol, Barts Canc Inst, London, England
[4] Kings Coll Hosp NHS Fdn Trust, Lab Mol Haematooncol, London, England
[5] Kings Coll Hosp London, Dept Haematol Med, London, England
[6] Univ Freiburg, Fac Biol, Freiburg, Germany
[7] Univ Childrens Hosp Freiburg, Pediat Hematol & Oncol, Freiburg, Germany
[8] Univ South Australia, Ctr Canc Biol, SA Pathol, Adelaide, SA, Australia
[9] Queen Mary Univ London, Ctr Genom & Child Hlth, Blizard Inst, London, England
[10] Barts Hlth NHS Trust, Dept Haematooncol, St Bartholomews Hosp, London, England
关键词
FAMILIAL MYELODYSPLASTIC SYNDROME; MUTATIONS; ASXL1;
D O I
10.1038/s41375-018-0134-9
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
[No abstract available]
引用
收藏
页码:2502 / 2507
页数:6
相关论文
共 16 条
  • [1] The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
    Arber, Daniel A.
    Orazi, Attilio
    Hasserjian, Robert
    Thiele, Jurgen
    Borowitz, Michael J.
    Le Beau, Michelle M.
    Bloomfield, Clara D.
    Cazzola, Mario
    Vardiman, James W.
    [J]. BLOOD, 2016, 127 (20) : 2391 - 2405
  • [2] 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
    [J]. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (06): : 890 - 894
  • [3] Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia
    Boultwood, J.
    Perry, J.
    Pellagatti, A.
    Fernandez-Mercado, M.
    Fernandez-Santamaria, C.
    Calasanz, M. J.
    Larrayoz, M. J.
    Garcia-Delgado, M.
    Giagounidis, A.
    Malcovati, L.
    Della Porta, M. G.
    Jadersten, M.
    Killick, S.
    Hellstrom-Lindberg, E.
    Cazzola, M.
    Wainscoat, J. S.
    [J]. LEUKEMIA, 2010, 24 (05) : 1062 - 1065
  • [4] Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia
    Celton, M.
    Forest, A.
    Gosse, G.
    Lemieux, S.
    Hebert, J.
    Sauvageau, G.
    Wilhelm, B. T.
    [J]. LEUKEMIA, 2014, 28 (08) : 1617 - 1626
  • [5] Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes
    Chong, C-E
    Venugopal, P.
    Stokes, P. H.
    Lee, Y. K.
    Brautigan, P. J.
    Yeung, D. T. O.
    Babic, M.
    Engler, G. A.
    Lane, S. W.
    Klingler-Hoffmann, M.
    Matthews, J. M.
    D'Andrea, R. J.
    Brown, A. L.
    Hahn, C. N.
    Scott, H. S.
    [J]. LEUKEMIA, 2018, 32 (01) : 194 - 202
  • [6] Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
    Cooper, David N.
    Krawczak, Michael
    Polychronakos, Constantin
    Tyler-Smith, Chris
    Kehrer-Sawatzki, Hildegard
    [J]. HUMAN GENETICS, 2013, 132 (10) : 1077 - 1130
  • [7] 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.
    [J]. JOURNAL OF IMMUNOLOGY, 2015, 194 (05) : 2190 - 2198
  • [8] Cancer Epigenetics: From Mechanism to Therapy
    Dawson, Mark A.
    Kouzarides, Tony
    [J]. CELL, 2012, 150 (01) : 12 - 27
  • [9] How I diagnose and manage individuals at risk for inherited myeloid malignancies
    Drazer, Michael W.
    Feurstein, Simone
    West, Allison H.
    Jones, Matthew F.
    Churpek, Jane E.
    Godley, Lucy A.
    [J]. BLOOD, 2016, 128 (14) : 1800 - 1813
  • [10] Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
    Hahn, Christopher N.
    Chong, Chan-Eng
    Carmichael, Catherine L.
    Wilkins, Ella J.
    Brautigan, Peter J.
    Li, Xiao-Chun
    Babic, Milena
    Lin, Ming
    Carmagnac, Amandine
    Lee, Young K.
    Kok, Chung H.
    Gagliardi, Lucia
    Friend, Kathryn L.
    Ekert, Paul G.
    Butcher, Carolyn M.
    Brown, Anna L.
    Lewis, Ian D.
    To, L. Bik
    Timms, Andrew E.
    Storek, Jan
    Moore, Sarah
    Altree, Meryl
    Escher, Robert
    Bardy, Peter G.
    Suthers, Graeme K.
    D'Andrea, Richard J.
    Horwitz, Marshall S.
    Scott, Hamish S.
    [J]. NATURE GENETICS, 2011, 43 (10) : 1012 - U130