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

来源：

LEUKEMIA | 2018年 / 32卷 / 11期

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

页码：2502 / 2507

页数：6

共 16 条

[11] GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome
Hsu, Amy P.
Johnson, Kirby D.
Falcone, E. Liana
Sanalkumar, Rajendran
Sanchez, Lauren
Hickstein, Dennis D.
Cuellar-Rodriguez, Jennifer
Lemieux, Jacob E.
Zerbe, Christa S.
Bresnick, Emery H.
Holland, Steven M.
[J]. BLOOD, 2013, 121 (19) : 3830 - 3837
[12] Recognizing familial myeloid leukemia in adults
Nickels, Eric M.
Soodalter, Jesse
Churpek, Jane E.
Godley, Lucy A.
[J]. THERAPEUTIC ADVANCES IN HEMATOLOGY, 2013, 4 (04) : 254 - 269
[13] Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants
Pastor, V.
Hirabayashi, S.
Karow, A.
Wehrle, J.
Kozyra, E. J.
Nienhold, R.
Ruzaike, G.
Lebrecht, D.
Yoshimi, A.
Niewisch, M.
Ripperger, T.
Goehring, G.
Baumann, I.
Schwarz, S.
Strahm, B.
Flotho, C.
Skoda, R. C.
Niemeyer, C. M.
Wlodarski, M. W.
[J]. LEUKEMIA, 2017, 31 (03) : 759 - 762
[14] Understanding the relationship between DNA methylation and histone lysine methylation
Rose, Nathan R.
Klose, Robert J.
[J]. BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS, 2014, 1839 (12): : 1362 - 1372
[15] GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies
Wang, Xinan
Muramatsu, Hideki
Okuno, Yusuke
Sakaguchi, Hirotoshi
Yoshida, Kenichi
Kawashima, Nozomu
Xu, Yinyan
Shiraishi, Yuichi
Chiba, Kenichi
Tanaka, Hiroko
Saito, Shoji
Nakazawa, Yozo
Masunari, Taro
Hirose, Tadashi
Elmahdi, Shaimaa
Narita, Atsushi
Doisaki, Sayoko
Ismael, Olfat
Makishima, Hideki
Hama, Asahito
Miyano, Satoru
Takahashi, Yoshiyuki
Ogawa, Seishi
Kojima, Seiji
[J]. HAEMATOLOGICA, 2015, 100 (10) : E398 - E401
[16] Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation
West, Robert R.
Hsu, Amy P.
Holland, Steven M.
Cuellar-Rodriguez, Jennifer
Hickstein, Dennis D.
[J]. HAEMATOLOGICA, 2014, 99 (02) : 276 - 281

← 1 2 →