Two Novel Mutations of the NPM1 Gene in Syrian Adult Patients with Acute Myeloid Leukemia and Normal Karyotype

Alarbeed, Ismael F.; Wafa, Abdulsamad; Moassass, Faten; Al‐Halabi, Bassel; Al‐Achkar, Walid; Aboukhamis, Imad

doi:10.31557/apjcp.2021.22.1.227

Cited by 3 publications

(2 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Metzeler et al report were the only study in line with our findings (Metzeler et al, 2011). Regarding our analyses, the TET2mut did not show any correlation with FLT3, NPM1 and CEBPA expression levels (Ishfaq et al, 2012;Sarojam et al, 2015;Alarbeed et al, 2021). Since the previous studies evaluated the molecular prognostic markers through the sequencing method, this discrepancy might be caused by the difference in method.…”

Section: Discussionsupporting

confidence: 76%

Detection of TET2 Mutation in Patients with De Novo Acute Myeloid Leukemia: A Mutation Analysis of 51 Iranian Patients

Chehreghani

Sadeghian

Ayatollahi

et al. 2022

Asian Pac J Cancer Prev

View full text Add to dashboard Cite

Acute myeloid leukemia (AML) is a heterogeneous clonal disease that is considered to originate from hematopoietic stem cells, which are characterized by impaired myelopoiesis and blast proliferation. TET oncogene family member 2 (TET2) mutations are frequent in myeloid malignancies and several studies have assessed the clinical importance of TET2 mutations. However, its frequency ratio has not yet been fully clarified. Method: Hence, our study was aimed to analyze TET2mut in patients with de-novo AML and their association with clinical, molecular characteristics and Nucleophosmin 1 (NPM1), Fms-like tyrosine kinase 3 (FLT3), CCAAT Enhancer Binding Protein Alpha (CEBPA) and Wilms’ tumor protein ( WT1 ) gene expression. Fifty-one Iranian patients were screened by polymerase chain reaction (PCR) and direct sequencing to evaluate TET2 mutations frequency. Results: Out of all patients, 10 mutations in 8 patients (15.6%) were detected and closely associated with higher age and higher hemoglobin levels (p-value <0.05). Although FLT3, NPM1 and CEBPA gene expression did not show any significant correlation with TET2mut, cytogenetically normal acute myeloid leukemia (CN-AML) patients appear to bear TET2mut more frequently with lower platelet counts. Monocyte-lineages leukemia has seemed to be more linked with TET2mut in these patients. Conclusion: Our study suggests the frequency of TET2mut in our study (15.6%) is in line with previous studies and reveals the critical role of TET2 in myeloid transformation, especially in leukemia with monocytic subtypes.

show abstract

Section: Discussionsupporting

confidence: 76%

Detection of TET2 Mutation in Patients with De Novo Acute Myeloid Leukemia: A Mutation Analysis of 51 Iranian Patients

Chehreghani

Sadeghian

Ayatollahi

et al. 2022

Asian Pac J Cancer Prev

View full text Add to dashboard Cite

show abstract

“…Several recent reports have demonstrated aberrant m6A modification to have exerted critical roles on lung cancer development. High RBM15 expression is found to be associated with a variety of cancers, including ovarian cancer and cervical squamous cell carcinoma(CESC) (23,24), while limited researches were carried out on the relationship between RBM15 and lung adenocarcinoma.…”

Section: Introductionmentioning

confidence: 99%

The prognostic value of N6-methyladenosine RBM15 regulators in lung adenocarcinoma

Wang

et al. 2022

Cell Mol Biol (Noisy-le-grand)

View full text Add to dashboard Cite

N6-methyladenosine (m6A) is the most common internal modification in mammalian mRNAs while RNA-binding motif protein 15 (RBM15) is an important methyltransferase in m6A modification. Increasing evidences have shown that RBM15 has a close correlation with lung cancer. However, specific functions of RBM15 in lung adenocarcinoma (LUAD) are limited. RBM15 expression was analyzed in human LUAD tissues and matched healthy lung tissue. RBM15 was knocked down via siRNA in A549 and H1734 cells. The relationships between RBM15 with cellular functions characteristics and mRNA m6A levels were explored. We performed functional characterization in A549 and H1734 cells lines to elucidate the molecular role of RBM15. Results found that RBM15 was up-regulated in the LUAD tissue and cells, which was linked to poor survival of LUAD patients. RBM15 can be knocked down via siRNA in A549, which leads to the exploration of the associations between RBM15 with cell characteristics. In vivo, RBM15 knockdown could decrease the methylation level, reduce proliferation, accelerate apoptosis and inhibit tumor growth. Our research shows that RBM15 facilitates LUAC cell progression by m6A demethylation. However, it is necessary to conduct further researches on potential downstream molecular mechanisms and m6A modification of RBM15 activity in LUAC.

show abstract

Clinical prognostic value of different NPM1 mutations in acute myeloid leukemia patients

Shi,

Chen,

Jin

et al. 2024

Ann Hematol

View full text Add to dashboard Cite

Two Novel Mutations of the NPM1 Gene in Syrian Adult Patients with Acute Myeloid Leukemia and Normal Karyotype

Abstract: Nucleophosphomin (NPM1) is a nucleocytoplasmic shuttling protein that plays an active role in ribosomal protein assembly, chromatin remodeling, DNA repair, replication, and transcription (Lindstrom 2011). Mutations in the NPM1 gene have been reported in 25-35% of

Cited by 3 publications

References 27 publications

Detection of TET2 Mutation in Patients with De Novo Acute Myeloid Leukemia: A Mutation Analysis of 51 Iranian Patients

Detection of TET2 Mutation in Patients with De Novo Acute Myeloid Leukemia: A Mutation Analysis of 51 Iranian Patients

The prognostic value of N6-methyladenosine RBM15 regulators in lung adenocarcinoma

Clinical prognostic value of different NPM1 mutations in acute myeloid leukemia patients

Contact Info

Product

Resources

About