Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation

Raveendran, Sureshkumar; Sarojam, Santhi; Vijay, Sangeetha; Geetha, Aswathy Chandran; Sreedharan, Jayadevan; Narayanan, Geetha; Subramanian, Hariharan

doi:10.7314/apjcp.2015.16.9.4095

Cited by 2 publications

(5 citation statements)

References 40 publications

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“…These results were also in agreement with reports stating that IDH2 mutated patients displayed infrequent NPM1 mutations and lower WBC count (DiNardo et al, 2016). Like others, we have found that IDH mutations were mutually exclusive with CBF AML (Raveendran et al, 2015).…”

Section: Discussionsupporting

confidence: 93%

“…We have correlated IDH mutations with patient characteristics, different laboratory findings and AML prognostic factors. There was a female predominance for IDH mutations (3M/7F), but the difference was not significant and this result was in agreement with another report (Raveendran et al, 2015). We have not found a significant relation between IDH mutations and Hb concentration, TLC and platelet count (p=0.924 , 0.611 and 0.0935 respectively) which was in agreement with another report (Patel et al, 2011).…”

Section: Molecular Mutationssupporting

confidence: 92%

“…This incidence is in agreement with other reports (Papaemmanuil et al, 2016; Montalban-Bravo and DiNardo 2018). However, in another study, IDH1 and 2 mutations were detected in 5.5% and 4%, respectively (Raveendran et al, 2015). Some reports found the frequency of IDH1 mutations in AML patients from various countries 2-14% (Chotirat et al, 2012;Ahmad et al, 2014).…”

Section: Molecular Mutationsmentioning

confidence: 89%

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IDH Mutations in AML Patients; A higher Association with Intermediate Risk Cytogenetics

Elnahass

Badawy

Elrefaey

et al. 2020

Asian Pac J Cancer Prev

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Objective: IDH mutations diversely affect the prognosis of cyogenetically normal acute myeloid leukemia (CN-AML) adult patients. The aim of this study is to assess the frequency of IDH mutations and to evaluate its role in AML prognosis. Methods: We have analyzed IDH1 and 2 mutations using High Resolution Melting curve analysis (HRM) in 70 denovo AML patients. Results: The median age of AML patients is 40 years (16-75). Incidence of IDH mutations is 10/70 (14.3%); 2 (2.9%) IDH1 mutant and 8 (11.4%) IDH2 mutant. Median PB blasts of mutant IDH patients was 67.5% (25-96) vs. 44% (0-98) for wild type (p=0.065). Eight/10 (80%) mutant IDH patients had B.M blasts ≥50% vs. 2/10 (20%) <50% (p<0.001) and were classified as intermediate risk cytogenetics (p=0.020) with wild FLT3-ITD (p=0.001). Ten/10 (100%) mutant IDH patients showed wild NPM1 (p=0.049). Median OS of mutant IDH in the intermediate risk cytogenetics was 1.8 years (0.7-3.1) vs. 3.1 years (1.1-5.5) for wild IDH (p=0.05). Conclusion: IDH mutation is mainly associated with intermediate risk AML and when integrated in this specific subgroup displays a lower survival and can be considered an additional integrated molecular risk marker for AML prognosis.

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Section: Discussionsupporting

confidence: 93%

Section: Molecular Mutationssupporting

confidence: 92%

Section: Molecular Mutationsmentioning

confidence: 89%

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IDH Mutations in AML Patients; A higher Association with Intermediate Risk Cytogenetics

Elnahass

Badawy

Elrefaey

et al. 2020

Asian Pac J Cancer Prev

View full text Add to dashboard Cite

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“…The correlation of IDH mutations with patient characteristics, various laboratory results and AML prognostic factors were studied. IDH mutations were more common in male, although the difference was not statistically significant and this result was in inconsistent with other report (Raveendran et al, 2015;Ali et al, 2018;ElNahass et al, 2020;Pastore et al,2022). In agreement with another report (Patel et al, 2011), we did not find a significant correlation between IDH mutations and TLC, Hb concentration, or platelets count (p= 0.166 , 0.981 and 0.483 respectively).…”

Section: Discussioncontrasting

confidence: 73%

“…In our study cohort, the frequency of IDH1 mutations was 3.5% and the frequency of IDH2 mutations was 4.3%. However, in another study, IDH1/2 mutations were found in 5.5% and 4%, respectively (Raveendran et al, 2015) and IDH1 and 2 mutations were detected in 2. 9% and 11.4%, respectively (ElNahass et al, 2020).…”

Section: Discussionmentioning

confidence: 81%

Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients

Atef,

Shafik,

H.A. Hassan

et al. 2023

Asian Pac J Cancer Prev

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Background and Objective: Isocitrate dehydrogenase genes ( IDH1 and IDH2 ) encode important enzymes that play pivotal role in cellular metabolism. Mutations in TET2 have been demonstrated to contribute to DNA hypermethylation, either expression of mutant IDH1 / 2 or TET2 resulted in poor cell differentiation and epigenetic alterations in hematopoietic cells, suggesting a sharing of the oncogenetic impact. In this study, we investigated the frequency of genetic alterations in IDH1/2 and TET2 genes in Egyptian cohort of adult patients with de novo AML, and the association of IDH1 / 2 and TET2 genetic Polymorphism with AML prognostic criteria and explore prognostic molecular markers with clinical outcome. Methods: The SNP assay for IDH1 , IDH2 and TET2 genes polymorphism tested with RT-PCR included three polymorphisms that are rs121913500, rs121913503, and rs2454206 respectively, were tested on 141 adult Egyptian patients fulfilling the AML diagnostic criteria. Result: The incidence of IDH mutations is 11/141 (7.8%); 5/141 (3.5%) IDH1 mutant and 6/141 (4.3%) IDH2 mutant. And the incidence of TET2 mutations is 72/141 (51.1%); 15/141 (10.7%) homozygous mutation and 57/141 (40.4%) heterozygous mutations. IDH1 , IDH2 and TET2 genes mutations with DFS and OS in AML patients were not significantly correlated. Conclusions: TET2 SNP is common in Egyptian AML patients. Further research on IDH, TET2 and their relationships to other hematological malignancies and leukemogenesis transformation is advised and a study of a larger number of cases is needed for potential statistical significance.

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Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation

Cited by 2 publications

References 40 publications

IDH Mutations in AML Patients; A higher Association with Intermediate Risk Cytogenetics

IDH Mutations in AML Patients; A higher Association with Intermediate Risk Cytogenetics

Genetic Polymorphism Study of IDH 1/2 and TET2 Genes in Acute Myeloid leukemia Patients

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