Recurrent somatic IDH1 mutation in an adult with Maffucci syndrome

被引：0
|
作者：
Brown, N. J. [1 ,2 ,3 ]
Ye, Z. [4 ]
Stutterd, C. [2 ,3 ]
Schneider, A. [4 ]
Mullen, S. [4 ,5 ]
Mandelstam, S. [3 ,5 ,6 ]
Scheffer, I. E. [3 ,4 ,7 ]
Hildebrand, M. S. [4 ]
机构：
[1] MCRI, Victorian Clin Genet Serv, Parkville, Vic, Australia
[2] Austin Hlth, Dept Clin Genet, Heidelberg, Vic, Australia
[3] Univ Melbourne, Dept Paediat, Royal Childrens Hosp, Parkville, Vic, Australia
[4] Univ Melbourne, Dept Med, Austin Hosp, Heidelberg, Vic, Australia
[5] Florey Inst Neurosci & Mental Hlth, Heidelberg, Vic, Australia
[6] Royal Childrens Hosp, Dept Med Imaging, Parkville, Vic, Australia
[7] Florey Inst Neurosci & Mental Hlth, Parkville, Vic, Australia
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
基金：
澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P04.37A
引用
收藏
页码：1286 / 1286
页数：1
相关论文
共 50 条
  • [31] Association of smoking with IDH1 mutation in glioma
    Malueka, Rusdy
    Dwianingsih, Ery Kus
    Argo, Ibnu
    Alethea, Maria
    Dananjoyo, Kusumo
    Asmedi, Ahmad
    Hartanto, Rachmat
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429
  • [32] IDH1 Mutation in Myeloid Malignancies: Correlation Between IDH1 Mutation Specific Immunohistochemistry and DNA-Based Sequencing
    Conant, Joanna
    Yan, Jie
    Buehler, Karen
    Vasef, Mohammad
    LABORATORY INVESTIGATION, 2018, 98 : 509 - 509
  • [33] IDH1 Mutation in Myeloid Malignancies: Correlation Between IDH1 Mutation Specific Immunohistochemistry and DNA-Based Sequencing
    Conant, Joanna
    Yan, Jie
    Buehler, Karen
    Vasef, Mohammad
    MODERN PATHOLOGY, 2018, 31 : 509 - 509
  • [34] Mutation Analysis of IDH1 in Paired Gliomas Revealed IDH1 Mutation Was Not Associated with Malignant Progression but Predicted Longer Survival
    Yao, Yu
    Chan, Aden Ka-Yin
    Qin, Zhi Yong
    Chen, Ling Chao
    Zhang, Xin
    Pang, Jesse Chung-Sean
    Li, Hiu Ming
    Wang, Yin
    Mao, Ying
    Ng, Ho-Keung
    Zhou, Liang Fu
    PLOS ONE, 2013, 8 (06):
  • [35] Clinical and radiological response of Maffucci related enchondromas to mutant IDH1 inhibitor Ivosidenib
    Funck-Brentano, Thomas
    Cohen-Solal, Martine
    Ducray, Francois
    Mandonnet, Emmanuel
    BONE, 2024, 188
  • [36] Correlation between IDH1 Gene Mutation Status and Survival of Patients Treated for Recurrent Glioma
    Lv, Shasha
    Teugels, Erik
    Sadones, Jan
    Quartier, Erik
    Huylebrouck, Mike
    Du Four, Stephanie
    Le Mercier, Marie
    De Witte, Olivier
    Salmon, Isabelle
    Michotte, Alex
    De Greve, Jacques
    Neyns, Bart
    ANTICANCER RESEARCH, 2011, 31 (12) : 4457 - 4463
  • [37] IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome
    Lin, Jiang
    Yao, Dong-ming
    Qian, Jun
    Chen, Qin
    Qian, Wei
    Li, Yun
    Yang, Jing
    Wang, Cui-zhu
    Chai, Hai-yan
    Qian, Zhen
    Xiao, Gao-fei
    Xu, Wen-rong
    ANNALS OF HEMATOLOGY, 2012, 91 (04) : 519 - 525
  • [38] IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome
    Jiang Lin
    Dong-ming Yao
    Jun Qian
    Qin Chen
    Wei Qian
    Yun Li
    Jing Yang
    Cui-zhu Wang
    Hai-yan Chai
    Zhen Qian
    Gao-fei Xiao
    Wen-rong Xu
    Annals of Hematology, 2012, 91 : 519 - 525
  • [39] CLINICAL AND MOLECULAR CHARACTERISTICS OF NEWLY DIAGNOSED GLIOBLASTOMAS WITH IDH1 MUTATION AND CORRELATION OF IDH1 MUTATIONS WITH PROGNOSIS
    Ohno, Makoto
    Narita, Yoshitaka
    Miyakita, Yasuji
    Arita, Hideyuki
    Matsushita, Yuko
    Yoshida, Akihiko
    Fukushima, Shintaro
    Ichimura, Koichi
    Shibui, Soichiro
    NEURO-ONCOLOGY, 2013, 15 : 124 - 124
  • [40] Validation of Immunohistochemistry for Identification of IDH1 Mutation in Gliomas
    Egoavil, C. M.
    Paya, A.
    Irles, E.
    Garcia-Martinez, A.
    Soto, J. L.
    Castillejo, A.
    Castillejo, M. I.
    Quintanar, T.
    Herrero, J.
    Rodriguez-Lescure, A.
    Portugues, M. J.
    Moreno, P.
    Heredia, L.
    Andrada, E.
    Aranda, I.
    Barbera, V. M.
    Alenda, C.
    LABORATORY INVESTIGATION, 2013, 93 : 474A - 474A
12345