DDX41: the poster child for familial MDS/AML grows up

被引：3

作者：

Truong, Peter ^{[1
,2
]}

Pimanda, John E. ^{[1
,2
,3
]}

机构：

[1] UNSW Sydney, Sydney, Australia

[2] Lowy Canc Res Ctr, Kensington, Australia

[3] Prince Wales Hosp, Hong Kong, Australia

来源：

BLOOD | 2023年 / 141卷 / 05期

关键词：

D O I：

10.1182/blood.2022018787

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In this issue of Blood, Makishima et al(1) use next-generation sequencing data from a large multinational cohort of patients with myeloid neoplasm (MN) (n = 9082; Japanese, 49%) to define the frequency and spectrum of pathogenic DDX41 germ line and somatic variants, estimate the age-related penetrance of DDX41 variants on the development of MNs, and elucidate key genetic and clinical features germane to DDX41-mutated MNs.

引用

页码：447 / 449

页数：3

共 25 条

[1] DDX41: the poster child for familial AML
Rio-Machin, Ana
Fitzgibbon, Jude
BLOOD, 2022, 140 (07) : 667 - 669
[2] GERMLINE DDX41 MUTATIONS : A SIGNIFICANT ENTITY WITHIN ADULT MDS/AML PATIENTS
Sebert, M.
LEUKEMIA RESEARCH, 2023, 128
[3] Germline DDX41 mutations define a significant entity within adult MDS/AML patients
Sebert, Marie
Passet, Marie
Raimbault, Anna
Rahme, Ramy
Raffoux, Emmanuel
de Fontbrune, Flore Sicre
Cerrano, Marco
Quentin, Samuel
Vasquez, Nadia
Da Costa, Melanie
Boissel, Nicolas
Dombret, Herve
de Latour, Regis Peffault
Socie, Gerard
Itzykson, Raphael
Fenaux, Pierre
Soulier, Jean
Ades, Lionel
Clappier, Emmanuelle
BLOOD, 2019, 134 (17) : 1441 - 1444
[4] BEYOND DDX41: DDH AND DHX HELICASES ARE MUTATED IN MDS
Gurnari, C.
Durmaz, A.
Kubota, Y.
Ogbue, O.
Awada, H.
Kawashima, N.
Laframboise, T.
Padgett, R.
Haferlach, T.
Maciejewski, J.
Visconte, V.
LEUKEMIA RESEARCH, 2023, 128
[5] Disease Characteristics of AML Patients with Germline DDX41 Variants
Vagher, Jennie
Venkatachalam, Shobi
Li, Peng
Asch, Julie D.
Huber, Bryan D.
Tashi, Tsewang
Shami, Paul J.
Kovacsovics, Tibor
Maese, Luke
Parker, Charles J.
Tantravahi, Srinivas K.
BLOOD, 2021, 138
[6] Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Lewinsohn, Maya
Brown, Anna L.
Weinel, Luke M.
Phung, Connie
Rafidi, George
Lee, Ming K.
Schreiber, Andreas W.
Feng, Jinghua
Babic, Milena
Chong, Chan-Eng
Lee, Young
Yong, Agnes
Suthers, Graeme K.
Poplawski, Nicola
Altree, Meryl
Phillips, Kerry
Jaensch, Louise
Fine, Miriam
D'Andrea, Richard J.
Lewis, Ian D.
Medeiros, Bruno C.
Pollyea, Daniel A.
King, Mary-Claire
Walsh, Tom
Keel, Sioban
Shimamura, Akiko
Godley, Lucy A.
Hahn, Christopher N.
Churpek, Jane E.
Scott, Hamish S.
BLOOD, 2016, 127 (08) : 1017 - 1023
[7] The Inherited MDS Gene DDX41 Is Required for Ribosome Biogenesis and Cell Viability
Chlon, Timothy M.
Stepanchick, Emily
Choi, Kwangmin
Zheng, Yi
Hueneman, Kathleen
Davis, Ashley
Starczynowski, Daniel T.
BLOOD, 2019, 134
[8] Pathogenic DDX41 variants, possible response predictors to low-dose melphalan in hypo- and normocellular MDS and AML
Nyquist, Otto Emil
Dalgaard, Jakob
Spetalen, Signe
Torkildsen, Synne
Froen, Hege
Galteland, Eivind
Klungsoyr, Ole
Bergrem, Astrid
Vo, Camilla
Sorbo, Hjalmar
Eiken, Birgitte
Lerdal, Hedda
Solvang, Ann-Karin
Jensvoll, Hilde
Pandzic, Tatjana
Baliakas, Panagiotis
Dybedal, Ingunn
BRITISH JOURNAL OF HAEMATOLOGY, 2024, 204 (02) : 724 - 729
[9] Germline DDX41 mutations constitute a novel AML syndrome with late onset
Schulze, I
Polprasert, C.
Sekeres, M.
Makishima, H.
Przychodzen, B.
Hosono, N.
Singh, J.
Padgett, R.
Phillips, J.
Mukherjee, S.
Clemente, M.
Krug, U.
Klein, H-U
Dugas, M.
Berdel, W. E.
Yoshida, K.
Shiraishi, Y.
Chiba, K.
Tanaka, H.
Miyano, S.
Ogawa, S.
Mueller-Tidow, C.
ONCOLOGY RESEARCH AND TREATMENT, 2014, 37 : 125 - 125
[10] Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia
Cardoso, S. R.
Ryan, G.
Walne, A. J.
Ellison, A.
Lowe, R.
Tummala, H.
Rio-Machin, A.
Collopy, L.
Al Seraihi, A.
Wallis, Y.
Page, P.
Akiki, S.
Fitzgibbon, J.
Vulliamy, T.
Dokal, I.
LEUKEMIA, 2016, 30 (10) : 2083 - 2086

← 1 2 3 →