Investigation of Isocitrate Dehydrogenase 1 and 2 Mutations in Acute Leukemia Patients in Saudi Arabia

被引:2
|
作者
Alkhatabi, Heba [1 ,2 ]
Bin Saddeq, Haneen Abdulfattah [3 ]
Alyamani, Luay [4 ]
Shinawi, Thoraia [1 ]
Yasin, Elrashed B. [5 ]
Alserihi, Raed [1 ,6 ]
Felimban, Raed [1 ,6 ]
Tayeb, Hossam H. [1 ,6 ]
Mimani, Rawan [2 ]
Alalla, Zainab [2 ]
Abu-Elmagd, Muhammad [2 ]
Abuzenadah, Adel [1 ,7 ]
机构
[1] King Abdulaziz Univ, Fac Appl Med Sci, Dept Med Lab Technol, Jeddah 80200, Saudi Arabia
[2] King Abdulaziz Univ, Ctr Excellence Genom Med Res CEGMR, Jeddah 80200, Saudi Arabia
[3] King Abdullah Med City, Mecca 24246, Saudi Arabia
[4] King Saud Bin Abdelaziz Univ Hlth Sci, Coll Med, Basic Med Sci Dept, Jeddah 80200, Saudi Arabia
[5] King Abdulaziz Univ, Fac Appl Med Sci, Dept Med Lab Technol, Rabigh 25732, Saudi Arabia
[6] King Abdulaziz Univ, Ctr Innovat Personalized Med CIPM, Jeddah 80200, Saudi Arabia
[7] King Abdulaziz Univ, King Fahad Med Res Ctr KFMRC, Jeddah 80200, Saudi Arabia
关键词
IDH1; IDH2; AML; ALL; ACUTE MYELOID-LEUKEMIA; IDH2; MUTATIONS; FREQUENCY;
D O I
10.3390/genes12121963
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Different forms of human cancer show mutations for isocitrate dehydrogenases 1 and 2 (IDH1/2). Mutation of these genes can cause aberrant methylation of the genome CpG islands (CGIs), which leads to an increase of suppressed oncogenes transcription or repression of active tumor suppressor gene transcription. This study aimed to identify the prevalence of IDH1/2 mutations in acute leukemia patients. The study cohort included 43 AML patients and 30 childhood ALL patients, from whom DNA bone marrow samples were taken. The alteration hotspots in codons IDH1 (R132) and IDH2 (R172 and R140) were examined via direct sequencing. Mutations in IDH1 were detected in 7 out of 43 (16.2%) AML patients; 5 of them occurred at codon R132. The other two mutations included a single-nucleotide polymorphism, which affected codon G105 in one patient. However, no mutation was detected in the IDH2 in any of the patients. Moreover, no mutations were detected in either IDH1 or IDH2 in ALL patients. The dominance of IDH1 mutations in AML, which was 16%, emphasizes the existence of the mutation in our population. On the other hand, IDH2 mutation was observed to be less frequent in both illnesses. Due to the limitation of using a small sample size, larger cohort screening is recommended to determine their usefulness as prognostic indicators.
引用
收藏
页数:10
相关论文
共 50 条
  • [1] Isocitrate dehydrogenase mutations in leukemia
    McKenney, Anna Sophia
    Levine, Ross L.
    JOURNAL OF CLINICAL INVESTIGATION, 2013, 123 (09) : 3672 - 3677
  • [2] Isocitrate dehydrogenase 1 and 2 mutations, 2-hydroxyglutarate levels, and response to standard chemotherapy for patients with newly diagnosed acute myeloid leukemia
    Brunner, Andrew M.
    Neuberg, Donna S.
    Wander, Seth A.
    Sadrzadeh, Hossein
    Ballen, Karen K.
    Amrein, Philip C.
    Attar, Eyal
    Hobbs, Gabriela S.
    Chen, Yi-Bin
    Perry, Ashley
    Connolly, Christine
    Joseph, Christelle
    Burke, Meghan
    Ramos, Aura
    Galinsky, Ilene
    Yen, Katharine
    Yang, Hua
    Straley, Kimberly
    Agresta, Sam
    Adamia, Sophia
    Borger, Darrell R.
    Iafrate, Anthony
    Graubert, Timothy A.
    Stone, Richard M.
    Fathi, Amir T.
    CANCER, 2019, 125 (04) : 541 - 549
  • [3] Prognostic Impact of Isocitrate Dehydrogenase Enzyme Isoforms 1 and 2 Mutations in Acute Myeloid Leukemia: A Study by the Acute Leukemia French Association Group
    Boissel, Nicolas
    Nibourel, Olivier
    Renneville, Aline
    Gardin, Claude
    Reman, Oumedaly
    Contentin, Nathalie
    Bordessoule, Dominique
    Pautas, Cecile
    de Revel, Thierry
    Quesnel, Bruno
    Huchette, Pascal
    Philippe, Nathalie
    Geffroy, Sandrine
    Terre, Christine
    Thomas, Xavier
    Castaigne, Sylvie
    Dombret, Herve
    Preudhomme, Claude
    JOURNAL OF CLINICAL ONCOLOGY, 2010, 28 (23) : 3717 - 3723
  • [4] Isocitrate dehydrogenase 1 and 2 mutations induce BCL-2 dependence in acute myeloid leukemia
    Chan, Steven M.
    Thomas, Daniel
    Corces-Zimmerman, M. Ryan
    Xavy, Seethu
    Rastogi, Suchita
    Hong, Wan-Jen
    Zhao, Feifei
    Medeiros, Bruno C.
    Tyvoll, David A.
    Majeti, Ravindra
    NATURE MEDICINE, 2015, 21 (02) : 178 - 184
  • [5] The prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia
    Chou, W-C
    Lei, W-C
    Ko, B-S
    Hou, H-A
    Chen, C-Y
    Tang, J-L
    Yao, M.
    Tsay, W.
    Wu, S-J
    Huang, S-Y
    Hsu, S-C
    Chen, Y-C
    Chang, Y-C
    Kuo, K-T
    Lee, F-Y
    Liu, M-C
    Liu, C-W
    Tseng, M-H
    Huang, C-F
    Tien, H-F
    LEUKEMIA, 2011, 25 (02) : 246 - 253
  • [6] Isocitrate dehydrogenase inhibitors in acute myeloid leukemia
    Liu, Xiaoyan
    Gong, Yuping
    BIOMARKER RESEARCH, 2019, 7 (01)
  • [7] Management of isocitrate dehydrogenase 1/2 mutated acute myeloid leukemia
    Fruchtman, Harry
    Avigan, Zachary M.
    Waksal, Julian A.
    Brennan, Nicole
    Mascarenhas, John O.
    LEUKEMIA, 2024, 38 (05) : 927 - 935
  • [8] Isocitrate dehydrogenase 1 and 2 mutations in cholangiocarcinoma
    Kipp, Benjamin R.
    Voss, Jesse S.
    Kerr, Sarah E.
    Fritcher, Emily G. Barr
    Graham, Rondell P.
    Zhang, Lizhi
    Highsmith, W. Edward
    Zhang, Jun
    Roberts, Lewis R.
    Gores, Gregory J.
    Halling, Kevin C.
    HUMAN PATHOLOGY, 2012, 43 (10) : 1552 - 1558
  • [9] Presence of isocitrate dehydrogenase mutations may predict clinical response to hypomethylating agents in patients with acute myeloid leukemia
    Emadi, Ashkan
    Faramand, Rawan
    Carter-Cooper, Brandon
    Tolu, Seda
    Ford, Laurie A.
    Lapidus, Rena G.
    Wetzler, Meir
    Wang, Eunice S.
    Etemadi, Arash
    Griffiths, Elizabeth A.
    AMERICAN JOURNAL OF HEMATOLOGY, 2015, 90 (05) : E77 - E79
  • [10] Isocitrate Dehydrogenase 1 and 2 Mutations in Gliomas
    Megova, Magdalena
    Drabek, Jiri
    Koudelakova, Vladimira
    Trojanec, Radek
    Kalita, Ondrej
    Hajduch, Marian
    JOURNAL OF NEUROSCIENCE RESEARCH, 2014, 92 (12) : 1611 - 1620