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
收藏
页码：447 / 449
页数：3
相关论文
共 25 条
  • [21] Detection of Novel Occult Germline Multi-Exon Deletions in Patients with DDX41 Familial Predisposition to Myeloid Malignancy
    Maierhofer, Anna
    Fox, Lucy C.
    Hutter, Stephan
    Baer, Constance
    Thompson, Ella
    Nguyen, Tamia
    Den Elzen, Nicole
    Filshie, Robin J.
    Tiong, Ing S.
    Nadarajah, Niroshan
    Meggendorfer, Manja
    Kern, Wolfgang
    Haferlach, Claudia
    Haferlach, Torsten
    Blombery, Piers
    BLOOD, 2022, 140 : 8676 - 8677
  • [22] DDX41 Mutations in Myeloid Neoplasms Are Associated with Male Predominance, TP53 mutation and a High Risk of Progression to AML
    Quesada, Andres E.
    DiNardo, Courtney
    Routbort, Mark
    Bueso-Ramos, Carlos
    Kanagal-Shamanna, Rashmi
    Zuo, Zhuang
    Yin, C. Cameron
    Loghavi, Sanam
    Ok, Chi Young
    Wang, Sa
    Benton, Christopher
    Kantarjian, Hagop M.
    Luthra, Rajyalakshmi
    Medeiros, L. Jeffrey
    Patel, Keyur
    MODERN PATHOLOGY, 2018, 31 : 545 - 545
  • [23] DDX41 Mutations in Myeloid Neoplasms Are Associated with Male Predominance, TP53 mutation and a High Risk of Progression to AML
    Quesada, Andres E.
    DiNardo, Courtney
    Routbort, Mark
    Bueso-Ramos, Carlos
    Kanagal-Shamanna, Rashmi
    Zuo, Zhuang
    Yin, C. Cameron
    Loghavi, Sanam
    Ok, Chi Young
    Wang, Sa
    Benton, Christopher
    Kantarjian, Hagop M.
    Luthra, Rajyalakshmi
    Medeiros, L. Jeffrey
    Patel, Keyur
    LABORATORY INVESTIGATION, 2018, 98 : 545 - 545
  • [24] Favorable Outcomes of DDX41-Mutated MDS and Low Blast Count AML Treated with Azacitidine with or without Lenalidomide (ALLG MDS4 Trial)
    Tiong, Ing S.
    Stevenson, William S.
    Wall, Meaghan
    Yap, Yan Zhuang
    Seymour, John F.
    Kenealy, Melita
    Blombery, Piers
    BLOOD, 2022, 140 : 4090 - 4091
  • [25] Unexpected liver cirrhosis and lungfibrosis in a patient with MDS-EB2 with DDX41 germline mutation undergoing allogeneic stem cell transplantation (HSCT)
    Thavayogarajah, T.
    Kiesel, H.
    Nair, G.
    Schanz, U.
    ONCOLOGY RESEARCH AND TREATMENT, 2021, 44 : 214 - 214
123