Significance of Clonal Mutations in Bone Marrow Failure and Inherited Myelodysplastic Syndrome/Acute Myeloid Leukemia Predisposition Syndromes

被引:15
作者
Schaefer, Eva J. [1 ]
Lindsley, R. Coleman [1 ]
机构
[1] Dana Farber Canc Inst, Dept Med Oncol, 450 Brookline Ave, Boston, MA 02215 USA
关键词
Myelodysplastic syndrome; Bone marrow failure syndromes; Genetic predisposition; Clonal hematopoiesis; SEVERE CONGENITAL NEUTROPENIA; SHWACHMAN-DIAMOND SYNDROME; FANCONI-ANEMIA PATIENTS; HEMATOPOIETIC STEM; SOMATIC MUTATIONS; ASXL1; MUTATIONS; APLASTIC-ANEMIA; CSF3R MUTATIONS; GATA2; P53;
D O I
10.1016/j.hoc.2018.03.005
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Clonal hematopoiesis as a hallmark of myelodysplastic syndrome (MDS) is mediated by the selective advantage of clonal hematopoietic stem cells in a context-specific manner. Although primary MDS emerges without known predisposing cause and is associated with advanced age, secondary MDS may develop in younger patients with bone marrow failure syndromes or after exposure to chemotherapy. This article discusses recent advances in the understanding of context-dependent clonal hematopoiesis in MDS, with focus on clonal evolution in inherited and acquired bone marrow failure syndromes.
引用
收藏
页码:643 / +
页数:15
相关论文
共 59 条
  • [51] Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
    Vlachos, Adrianna
    Rosenberg, Philip S.
    Atsidaftos, Eva
    Alter, Blanche P.
    Lipton, Jeffrey M.
    [J]. BLOOD, 2012, 119 (16) : 3815 - 3819
  • [52] 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
  • [53] The genomics of inherited bone marrow failure: from mechanism to the clinic
    Wegman-Ostrosky, Talia
    Savage, Sharon A.
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2017, 177 (04) : 526 - 542
  • [54] The Origin and Evolution of Mutations in Acute Myeloid Leukemia
    Welch, John S.
    Ley, Timothy J.
    Link, Daniel C.
    Miller, Christopher A.
    Larson, David E.
    Koboldt, Daniel C.
    Wartman, Lukas D.
    Lamprecht, Tamara L.
    Liu, Fulu
    Xia, Jun
    Kandoth, Cyriac
    Fulton, Robert S.
    McLellan, Michael D.
    Dooling, David J.
    Wallis, John W.
    Chen, Ken
    Harris, Christopher C.
    Schmidt, Heather K.
    Kalicki-Veizer, Joelle M.
    Lu, Charles
    Zhang, Qunyuan
    Lin, Ling
    O'Laughlin, Michelle D.
    McMichael, Joshua F.
    Delehaunty, Kim D.
    Fulton, Lucinda A.
    Magrini, Vincent J.
    McGrath, Sean D.
    Demeter, Ryan T.
    Vickery, Tammi L.
    Hundal, Jasreet
    Cook, Lisa L.
    Swift, Gary W.
    Reed, Jerry P.
    Alldredge, Patricia A.
    Wylie, Todd N.
    Walker, Jason R.
    Watson, Mark A.
    Heath, Sharon E.
    Shannon, William D.
    Varghese, Nobish
    Nagarajan, Rakesh
    Payton, Jacqueline E.
    Baty, Jack D.
    Kulkarni, Shashikant
    Klco, Jeffery M.
    Tomasson, Michael H.
    Westervelt, Peter
    Walter, Matthew J.
    Graubert, Timothy A.
    [J]. CELL, 2012, 150 (02) : 264 - 278
  • [55] 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
  • [56] Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents
    Wlodarski, Marcin W.
    Hirabayashi, Shinsuke
    Pastor, Victor
    Stary, Jan
    Hasle, Henrik
    Masetti, Riccardo
    Dworzak, Michael
    Schmugge, Markus
    van den Heuvel-Eibrink, Marry
    Ussowicz, Marek
    De Moerloose, Barbara
    Catala, Albert
    Smith, Owen P.
    Sedlacek, Petr
    Lankester, Arjan C.
    Zecca, Marco
    Bordon, Victoria
    Matthes-Martin, Susanne
    Abrahamsson, Jonas
    Kuehl, Joern Sven
    Sykora, Karl-Walter
    Albert, Michael H.
    Przychodzien, Bartlomiej
    Maciejewski, Jaroslaw P.
    Schwarz, Stephan
    Goehring, Gudrun
    Schlegelberger, Brigitte
    Cseh, Annamaria
    Noellke, Peter
    Yoshimi, Ayami
    Locatelli, Franco
    Baumann, Irith
    Strahm, Brigitte
    Niemeyer, Charlotte M.
    [J]. BLOOD, 2016, 127 (11) : 1387 - 1397
  • [57] Somatic mutations and clonal hematopoiesis in congenital neutropenia
    Xia, Jun
    Miller, Christopher A.
    Baty, Jack
    Ramesh, Amrita
    Jotte, Matthew R. M.
    Fulton, Robert S.
    Vogel, Tiphanie P.
    Cooper, Megan A.
    Walkovich, Kelly J.
    Makaryan, Vahagn
    Bolyard, Audrey A.
    Dinauer, Mary C.
    Wilson, David B.
    Vlachos, Adrianna
    Myers, Kasiani C.
    Rothbaum, Robert J.
    Bertuch, Alison A.
    Dale, David C.
    Shimamura, Akiko
    Boxer, Laurence A.
    Link, Daniel C.
    [J]. BLOOD, 2018, 131 (04) : 408 - 416
  • [58] Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
    Yoshizato, T.
    Dumitriu, B.
    Hosokawa, K.
    Makishima, H.
    Yoshida, K.
    Townsley, D.
    Sato-Otsubo, A.
    Sato, Y.
    Liu, D.
    Suzuki, H.
    Wu, C. O.
    Shiraishi, Y.
    Clemente, M. J.
    Kataoka, K.
    Shiozawa, Y.
    Okuno, Y.
    Chiba, K.
    Tanaka, H.
    Nagata, Y.
    Katagiri, T.
    Kon, A.
    Sanada, M.
    Scheinberg, P.
    Miyano, S.
    Maciejewski, J. P.
    Nakao, S.
    Young, N. S.
    Ogawa, S.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2015, 373 (01) : 35 - 47
  • [59] Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes
    Zambetti, Noemi A.
    Bindels, Eric M. J.
    Van Strien, Paulina M. H.
    Valkhof, Marijke G.
    Adisty, Maria N.
    Hoogenboezem, Remco M.
    Sanders, Mathijs A.
    Rommens, Johanna M.
    Touw, Ivo P.
    Raaijmakers, Marc H. G. P.
    [J]. HAEMATOLOGICA, 2015, 100 (10) : 1285 - 1293