A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter]

被引：0
|
作者：
Furqoni, Abdul Hadi [1 ,2 ]
Fajarwati, Indah [1 ]
Poetranto, Anna Lystia [1 ]
机构：
[1] Natl Res & Innovat Agcy BRIN, Cibinong Sci Ctr, Res Org Hlth, Ctr Biomed Res, Cibinong Bogor, West Java, Indonesia
[2] Natl Res & Innovat Agcy BRIN, Res Org Hlth, Ctr Biomed Res, Cibinong Sci Ctr, Jl Raya Bogor 490, Cibinong-Bogor Km 46, Cibinong Bogor 16911, West Java, Indonesia
来源：
PHARMACOGENOMICS & PERSONALIZED MEDICINE | 2023年 / 16卷
关键词：
D O I：
10.2147/PGPM.S442628
中图分类号：
R9 [药学];
学科分类号：
1007 ;
摘要：
引用
收藏
页码：911 / 912
页数：2
相关论文
共 50 条
  • [41] The Predictive Value of MAP2K1/2 Mutations on Efficiency of Immunotherapy in Melanoma
    Ye, Ting
    Zhang, Jie-Ying
    Liu, Xin-Yi
    Zhou, Yu-Han
    Yuan, Si-Yue
    Yang, Meng-Mei
    Xie, Wen-Zhuan
    Gao, Chan
    Chen, Yao-Xu
    Huang, Meng-Li
    Ye, Cheng-Zhi
    Chen, Jing
    FRONTIERS IN IMMUNOLOGY, 2022, 12
  • [42] Potential role of MAP2K1 mutation in the trans-differentiation of interdigitating dendritic cell sarcoma: Case report and literature review
    Jenei, Alex
    Bedics, Gabor
    Erdelyi, Daniel J.
    Muller, Judit
    Gyorke, Tamas
    Bodor, Csaba
    Szepesi, Agota
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [43] Melanocytic Neoplasms With MAP2K1 in Frame Deletions and Spitz Morphology
    Sunshine, Joel C.
    Kim, Daniel
    Zhang, Bin
    Compres, Elsy, V
    Khan, Ayesha U.
    Busam, Klaus J.
    Gerami, Pedram
    AMERICAN JOURNAL OF DERMATOPATHOLOGY, 2020, 42 (12) : 923 - 931
  • [44] Rosai Dorfman's Disease with MAP2K1 Mutation Refractory to Chemotherapy with Complete Response to MEK Inhibitor Therapy: A Case Report
    Vieira, Gabriel Caixeta
    Carvalho, Leticia Duarte
    Carvalho do Carmo, Carolina Barbosa
    Kolb, Hans-Jochem
    de Almeida, Waldineia Menezes
    Nonino, Alexandre
    BLOOD, 2022, 140 : 11163 - 11163
  • [45] High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias
    Waterfall, Joshua J.
    Arons, Evgeny
    Walker, Robert L.
    Pineda, Marbin
    Roth, Laura
    Killian, J. Keith
    Abaan, Ogan D.
    Davis, Sean R.
    Kreitman, Robert J.
    Meltzer, Paul S.
    NATURE GENETICS, 2014, 46 (01) : 8 - +
  • [46] Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family
    Wu, Hong
    Che, Songtian
    Li, Shuchun
    Cheng, Yan
    Xiao, Jun
    Liu, Zaoxia
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (10):
  • [47] Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report
    Ramirez-Montano, Diana
    Pachajoa, Harry
    COLOMBIA MEDICA, 2019, 50 (01): : 40 - 45
  • [48] Novel pathogenic variant in KCNJ2: an Andersen-Tawil syndrome case report
    Yim, Jisook
    Kim, Myungshin
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S188 - S188
  • [49] High prevalence of MAP2K1 mutations in variant and IGHV4-34–expressing hairy-cell leukemias
    Joshua J Waterfall
    Evgeny Arons
    Robert L Walker
    Marbin Pineda
    Laura Roth
    J Keith Killian
    Ogan D Abaan
    Sean R Davis
    Robert J Kreitman
    Paul S Meltzer
    Nature Genetics, 2014, 46 : 8 - 10
  • [50] Evaluation of Heterogeneity in the Coding Region of BRAF, MAP2K1, and MAP2K2 Genes in Primary and Metastatic Melanomas
    Fernandes, Mariana
    Barcelos, Denise
    Carapeto, Fernando Cintra Lopes
    Cardili, Leonardo
    Comodo, Andreia Neves
    Mazloum, Susana Fares
    Marins, Maryana Mara
    Mendes, Agatha Ribeiro
    Pesquero, Joao Bosco
    Landman, Gilles
    JOURNAL OF CUTANEOUS PATHOLOGY, 2024,
12345