Familial acute myeloid leukemia due to a novel germline CEBPA pathogenic variant - a case report

被引:0
|
作者
Gava, Flavia [1 ]
Catto, Luiz Fernando Bazzo [2 ]
Valera, Elvis [1 ]
dos Reis, Maristella Bergamo Francisco [1 ]
Pintao, Maria Carolina Tostes [3 ]
Chauffaille, Maria de Lourdes [3 ]
Ramos, Flavia Sacilotto Donaires [2 ]
Scrideli, Carlos Alberto [1 ]
Pontes, Lorena Lobo Figueiredo [2 ]
机构
[1] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Pediat, Ribeirao Preto, SP, Brazil
[2] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Med Images Hematol & Clin Oncol, Ribeirao Preto, SP, Brazil
[3] Fleury Grp Lab, Sao Paulo, Brazil
关键词
MUTATIONS; AML;
D O I
10.1016/j.htct.2024.07.004
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
引用
收藏
页码:S417 / S420
页数:4
相关论文
共 50 条
  • [31] Mutation of CEBPA in familial acute myeloid leukaemia.
    Fitzgibbon, J
    Smith, M
    Cavenagh, J
    Lister, TA
    BLOOD, 2004, 104 (11) : 555A - 555A
  • [32] Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype
    Kim, Sollip
    Kim, Dong-Hwan
    Jang, Jun-Ho
    Jung, Chul-Won
    Jang, Mi-Ae
    Ki, Chang-Seok
    Kim, Jong-Won
    Kim, Sun-Hee
    Kim, Hee-Jin
    ANNALS OF LABORATORY MEDICINE, 2012, 32 (02) : 153 - 157
  • [33] Novel Co-frameshift mutations in N- and C-terminal regions of CEBPA in acute myeloid leukemia: A case report
    Ghasroldasht, Mohammad Mousaei
    Hosseinabadi, Shiva Vaheb
    Askari, Razieh Ebrahimi
    Lotfalipour, Reihaneh
    CANCER GENETICS, 2025, 292 : 73 - 76
  • [34] Clinical Significance of CEBPA Double Mutants: Challenges in Variant Classification and Subtyping of Acute Myeloid Leukemia
    Yoon, J.
    Narvaez, S. Garces
    Rosenbaum, J.
    Morrissette, J.
    Elenitoba-Johnson, K.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2020, 22 (11): : S20 - S20
  • [35] Acute Myeloid Leukemia Case Harboring Unusual FLT3 Variant: Somatic vs Germline?
    Singh, Nirupama
    Morlote, Diana
    Vnencak-Jones, Cindy
    Papadantonakis, Nikolaos
    Harada, Shuko
    LABORATORY MEDICINE, 2021, 52 (03) : E53 - E56
  • [36] Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition!
    Rafael Baptista, Renata Lyrio
    Evangelista dos Santos, Anna Claudia
    Gutiyama, Luciana Mayumi
    Solza, Cristiana
    Zalcberg, Ilana Renault
    FRONTIERS IN ONCOLOGY, 2017, 7
  • [37] Acute Myeloid Leukemia Characterized by Four CEBPA Mutations
    Beckman, Amy
    Meredith, Matthew
    Rangan, Aruna
    Thyagarajan, Bharat
    Yohe, Sophia
    Mroz, Pawel
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2018, 150 : S103 - S104
  • [38] Complexity of CEBPA Dysregulation in Human Acute Myeloid Leukemia
    Pabst, Thomas
    Mueller, Beatrice U.
    CLINICAL CANCER RESEARCH, 2009, 15 (17) : 5303 - 5307
  • [39] Role of CEBPA in Normal Karyotype Acute Myeloid Leukemia
    Medeiros, Bruno C.
    JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (12) : 2105 - 2105
  • [40] MUTATIONAL CHARACTERIZATION OF CEBPA MUTATIONS IN ACUTE MYELOID LEUKEMIA: REPORT OF LARGE SERIES OF MYELOID NEOPLASM.
    Kim, Min-sun
    Jang, Seongsoo
    You, Eunkyung
    Seo, Eul-Ju
    Park, Chan-Jeoung
    Cho, Young-Uk
    Ahn, Ari
    INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2017, 39 : 59 - 59