RUNX1 Mutations in Inherited and Sporadic Leukemia

被引:56
|
作者
Bellissimo, Dana C. [1 ]
Speck, Nancy A. [1 ]
机构
[1] Univ Penn, Dept Cell & Dev Biol, Abramson Family Canc Res Inst, Perelman Sch Med,Inst Regenerat Med, Philadelphia, PA 19104 USA
基金
美国国家卫生研究院;
关键词
RUNX1; leukemia; myeloid neoplasms; leukemia predisposition; familial platelet disorder with predisposition for acute myeloid leukemia; pre-leukemia; ACUTE MYELOID-LEUKEMIA; HEMATOPOIETIC STEM-CELLS; FAMILIAL PLATELET DISORDER; ACUTE LYMPHOBLASTIC-LEUKEMIA; CLONAL HEMATOPOIESIS; DNA-DAMAGE; TRANSCRIPTION FACTORS; SOMATIC MUTATIONS; POINT MUTATIONS; MYELODYSPLASTIC SYNDROME;
D O I
10.3389/fcell.2017.00111
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
RUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in RUNX1 are usually secondary events, whereas in FPD/AML they are initiating events. Here we will describe mutations in RUNX1 in sporadic AML and in FPD/AML, discuss the mechanisms by which inherited mutations in RUNX1 could elevate the risk of AML in FPD/AML individuals, and speculate on why mutations in RUNX1 are rarely, if ever, the first event in sporadic AML.
引用
收藏
页数:11
相关论文
共 50 条
  • [1] Mutations of RUNX1 in families with inherited thrombocytopenia
    De Rocco, Daniela
    Melazzini, Federica
    Marconi, Caterina
    Pecci, Alessandro
    Bottega, Roberta
    Gnan, Chiara
    Palombo, Flavia
    Giordano, Paola
    Coccioli, Maria Susanna
    Glembotsky, Ana C.
    Heller, Paula G.
    Seri, Marco
    Savoia, Anna
    Noris, Patrizia
    AMERICAN JOURNAL OF HEMATOLOGY, 2017, 92 (06) : E86 - E88
  • [2] Gene of the issue: RUNX1 mutations and inherited bleeding
    Morgan, Neil V.
    Daly, Martina E.
    PLATELETS, 2017, 28 (02) : 208 - 210
  • [3] NOVEL RUNX1 MUTATIONS IN FAMILIES WITH INHERITED THROMBOCYTOPENIA
    Noris, P.
    De Rocco, D.
    Melazzini, F.
    Marconi, C.
    Pecci, A.
    Bottega, R.
    Gnan, C.
    Palombo, F.
    Giordano, P.
    Coccioli, M. S.
    Glembotsky, A. C.
    Cigalini, E.
    Heller, P. G.
    Seri, M.
    Savoia, A.
    HAEMATOLOGICA, 2017, 102 : 124 - 124
  • [4] Point mutations in the RUNX1/AML1 gene:: another actor in RUNX leukemia
    Osato, M
    ONCOGENE, 2004, 23 (24) : 4284 - 4296
  • [5] Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia
    Motomi Osato
    Oncogene, 2004, 23 : 4284 - 4296
  • [6] Molecular Basis of Hematological Disease Caused by Inherited or Acquired RUNX1 Mutations
    Kellaway, Sophie G.
    Coleman, Daniel J. L.
    Cockerill, Peter N.
    Raghavan, Manoj
    Bonifer, Constanze
    EXPERIMENTAL HEMATOLOGY, 2022, 111 : 1 - 12
  • [7] Acute myeloid leukemia with concurrent NPM1 and RUNX1 mutations
    Zuo, Zhuang
    Medeiros, L. Jeffrey
    Yin, C. Cameron
    LEUKEMIA RESEARCH REPORTS, 2023, 20
  • [8] RUNX1 Mutations Reduce the Expression of CEBPA in Acute Myeloid Leukemia
    Grossmann, Vera
    Kohlmann, Alexander
    Dicker, Frank
    Butschalowski, Katrin
    Kern, Wolfgang
    Schnittger, Susanne
    Haferlach, Torsten
    Haferlach, Claudia
    BLOOD, 2011, 118 (21) : 1040 - 1040
  • [9] RUNX1 Mutations Are the Most Frequent Leukemia Associated Mutations in Congenital Neutropenia Patients
    Skokowa, Julia
    Steinemann, Doris
    Makaryan, Vahagn
    Klimiankou, Maksim
    Schnittger, Susanne
    Kohlmann, Alexander
    Schlegelberger, Brigitte
    Zeidler, Cornelia
    Dale, David C.
    Welte, Karl
    BLOOD, 2012, 120 (21)
  • [10] In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline
    Mendler, Jason H.
    Maharry, Kati
    Becker, Heiko
    Eisfeld, Ann-Kathrin
    Senter, Leigha
    Mrozek, Krzysztof
    Kohlschmidt, Jessica
    Metzeler, Klaus H.
    Schwind, Sebastian
    Whitman, Susan P.
    Khalife, Jihane
    Caligiuri, Michael A.
    Klisovic, Rebecca B.
    Moore, Joseph O.
    Carter, Thomas H.
    Marcucci, Guido
    Bloomfield, Clara D.
    HAEMATOLOGICA, 2013, 98 (08) : E92 - E94