Investigation of Isocitrate Dehydrogenase 1 and 2 Mutations in Acute Leukemia Patients in Saudi Arabia
Abstract
:1. Introduction
2. Materials and Methods
2.1. Patients Data
2.2. Cytogenetic and Molecular Data
2.3. DNA Extraction and PCR Amplification
2.4. DNA Sequencing
3. Results
3.1. IDH1 and IDH2 Mutations Analysis
3.2. Correlation of IDH1 and IDH2 with the Cytogenetic Aberrations
3.3. Correlation of IDH1/2 with Molecular Results
3.4. IDH1 and IDH2 Mutations Association with the Treatment Response
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Age, years, median (range) | (18–76) 34 |
Gender (female/male) | 18/25 |
Cytogenetic, n (%) | |
normal | 24 (56%) |
single abnormality | 16 (37%) |
complex | 2 (5%) |
unknown | 1 (2%) |
Molecular Changes (%) | |
FLT3/ITD | 2 (5%) |
FLT3/TKD | 2 (5%) |
NPM1 | 5 (12%) |
BCR/ABL | 2 (5%) |
PML/RARA | 2 (5%) |
None | 31 (72%) |
Outcome Following Treatment | |
In remission | 28 (65%) |
Relapse | 15 (35%) |
Age, years, median (range) | (1–14) 8 |
Gender (female/male) | 16/14 |
Cytogenetic, n (%) | |
normal | 15 (50%) |
single abnormality | 1 (3%) |
complex | 3 (10%) |
unknown | 11 (37%) |
Outcome Following Treatment | |
In remission | 19 (63%) |
Relapse | 11 (37%) |
Patient No. | Age/Sex | Diagnosis | Karyotype | Type of IDH Mutation | Presence of Other Mutations | Treatment Response |
---|---|---|---|---|---|---|
1 | 31/F | AML | trisomy 4,8 and 21 | IDH1 codon R132 c.395G>A, pArg13His | none | Relapse |
2 | 17/F | AML | cytogenetically normal | IDH1 codon R132, c.394C>T, p.Arg131Cys | NPM1 | In remission |
3 | 21/M | AML | t(8:21)(q22:q22), -2q deletion | IDH1 codon R132 c.395G>A, pArg13His | none | In remission |
4 | 29/F | AML | Complex karyotype: translocation (9;11), trisomy 13,12 and 22 | IDH1 codon G105, c.315C>T, pGly105Gly | none | Relapse |
5 | 18/F | AML | cytogenetically normal | IDH1 codon R132, c.394C>T, p.Arg131Cys | none | In remission |
6 | 36/F | AML | cytogenetically normal | IDH1 codon R135 c. T>A, | none | In remission |
7 | 22/M | AML | cytogenetically normal | IDH1 codon R132, c.394C>T, p.Arg131Cys + codon G105, c.315C>T, pGly105Gly | none | Relapse |
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Alkhatabi, H.; Bin Saddeq, H.A.; Alyamani, L.; Shinawi, T.; Yasin, E.B.; Alserihi, R.; Felimban, R.; Tayeb, H.H.; Mimani, R.; Alalla, Z.; et al. Investigation of Isocitrate Dehydrogenase 1 and 2 Mutations in Acute Leukemia Patients in Saudi Arabia. Genes 2021, 12, 1963. https://doi.org/10.3390/genes12121963
Alkhatabi H, Bin Saddeq HA, Alyamani L, Shinawi T, Yasin EB, Alserihi R, Felimban R, Tayeb HH, Mimani R, Alalla Z, et al. Investigation of Isocitrate Dehydrogenase 1 and 2 Mutations in Acute Leukemia Patients in Saudi Arabia. Genes. 2021; 12(12):1963. https://doi.org/10.3390/genes12121963
Chicago/Turabian StyleAlkhatabi, Heba, Haneen Abdulfattah Bin Saddeq, Luay Alyamani, Thoraia Shinawi, Elrashed B. Yasin, Raed Alserihi, Raed Felimban, Hossam H. Tayeb, Rawan Mimani, Zainab Alalla, and et al. 2021. "Investigation of Isocitrate Dehydrogenase 1 and 2 Mutations in Acute Leukemia Patients in Saudi Arabia" Genes 12, no. 12: 1963. https://doi.org/10.3390/genes12121963