Genes Located within the del(9q) Commonly Deleted Region Are Down-Regualted in Acute Myeloid Leukaemia.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 2040-2040
Author(s):  
Zheng Zhao ◽  
Sarah Daly ◽  
John Liu Yin ◽  
David Sweetser ◽  
Jacqueline Boultwood ◽  
...  
Keyword(s):  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Normal Karyotype ◽  
Complex Karyotype ◽  
Down Regulation ◽  
Expression Levels ◽  
Normal Individuals ◽  
Low Expression ◽  
Acute Myeloid

Abstract Deletions of 9q are recurring cytogenetic abnormalities in acute myeloid leukaemia (AML). In approximately one-third of cases del(9q) occurs in association with t(8;21). We have previously identified a 2.4Mb region located on 9q21.32–21.33 which is deleted in cases of del(9q) AML - the del(9q) commonly deleted region (CDR). This region encodes 11 genes which we have also previously shown not to be mutated in del(9q) AML. In order to further investigate the role of these genes in AML and in particular to elucidate the pathogenesis of del(9q) AML we have examined the expression of these genes in AML. RNA was extracted from the bone marrow or peripheral blood of patients with AML at the time of diagnosis. Patient samples from the following cytogenetic subgroups were included in this study: (1) del(9q) AML (n=8) - this includes 3 patients with associated t(8;21); (2) t(8;21) but no del(9q) (n=15); (3) Normal karyotype (n=6); (4) Complex Karyotype (n=6). Taqman assays were designed for 9 of the 11 genes located within the del(9q) CDR: FRMD3; ENSG00000148057; UBQLN1; GKAP42; Q9UF54; Q8N2B1; Q9H9A7; SLC28A3; NTRK2. For the other 2 genes within the region Taqman assays could not be performed because of uniformly low expression levels (Q8IZ41) and lack of specificity of primer-design (HNRPK). CD34-purified progenitors from normal individuals were used as controls. It was found that 6 of the 9 genes were significantly down-regulated in del(9q) AML (p<0.05): ENSG00000148057; UBQLN1; Q9UF54; Q8N2B1; Q9H9A7; NTRK2. Since del(9q) is commonly associated with t(8;21), cases of t(8;21) in which del(9q) was not present were also analysed for the expression levels of the del(9q) CDR genes. It was found that 5 of the 9 genes were significantly down regulated in t(8;21) AML (ENSG00000148057; Q9UF54; Q8N2B1; Q9H9A7; SLC28A3) (p<0.05). Only two of these genes were found to be down-regulated in AML of normal karyotype (Q9H9A7 and UBQLN1) (p<0.05) and no significant down-regulation was detected in any of these genes in AML of complex karyotype. Our findings indicate that several genes from within the del(9q) AML CDR are down-regulated in del(9q) AML. A similar pattern of down-regulation is found in cases of t(8;21) even in the absence of del(9q) AML. This suggests that down-regulation of one or more of these genes may be important in the pathogenesis of AML. It may therefore be hypothesized that this pattern of gene down-regulation provides a mechanism common to the development of AML with both del(9q) and t(8;21).

Association of MEG3 Hypermethylation and MiR-21 Upregulation with the Incidence in Iraqi Acute Myeloid Leukaemia Patients

2021 ◽  
Vol 19 (6) ◽  
pp. 122-128
Author(s):  
Noha Mohammed Saleh ◽  
Hameed Majeed Jasim
Keyword(s):  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Promoter Region ◽  
Hematologic Malignancy ◽  
Vital Role ◽  
Healthy Controls ◽  
Expression Levels ◽  
Elevated Expression ◽  
Acute Myeloid

Background: Acute myeloid leukaemia (AML) can be defined as a hematologic malignancy that distinguished by genetic defects and epigenetics alterations. LncRNA MEG3 was shown to play the role of tumour suppressor, and play a pivotal role in leukemogenesis, MEG3 hypermethylation has been reported to be related to different types of haematological malignancies. MIR-21 is regarded as a significant miRNA, it considered to play a vital role in AML progressions. Results: The levels of methylation in the MEG3 promoter region in AML patients were significantly increased than in healthy controls, as the MEG3 expression levels were significantly lowered (P ≤ 0.05) in AML patients in contrast with healthy controls. On the other hand, results showed elevated expression levels of miR-21 in AML patients compared with healthy controls. Conclusion: The present study indicates that the hypermethylation of MEG-3 promoter region could explain MEG-3 expression level loss. Our findings also revealed that the overexpression of miR-21 supports its function as an oncogene.

The role of MDR-related proteins in the prognosis of adult acute myeloid leukaemia (AML) with normal karyotype

2007 ◽  
Vol 25 (1) ◽  
pp. 38-43 ◽  
Author(s):  
Daniela Damiani ◽  
Mario Tiribelli ◽  
Donatella Raspadori ◽  
Angela Michelutti ◽  
Alessandro Gozzetti ◽  
...  
Keyword(s):  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Normal Karyotype ◽  
Related Proteins ◽  
Acute Myeloid

Immunophenotypic dysplasia and aberrant T-cell antigen expression in acute myeloid leukaemia with complex karyotype and TP53 mutations

2018 ◽  
Vol 71 (12) ◽  
pp. 1051-1059
Author(s):  
Katelyn C Dannheim ◽  
Olga Pozdnyakova ◽  
Paola Dal Cin ◽  
Olga K Weinberg
Keyword(s):  
T Cell ◽  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Normal Karyotype ◽  
Antigen Expression ◽  
Complex Karyotype ◽  
Aberrant Expression ◽  
T Cell Antigens ◽  
Molecular Aberrations ◽  
Acute Myeloid

AimsCytogenetic and molecular aberrations are the strongest factors in determining outcome in acute myeloid leukaemia (AML). AML with complex karyotype confers a particularly poor prognosis and is associated with morphologic dysplasia. Flow cytometric immunophenotyping (FCI) has been investigated in defining dysplasia within myelodysplastic syndromes, but little is known about immunophenotypic dysplasia in AML and correlation with genetic abnormalities. This study aimed to explore differences in antigen expression by FCI in AML with complex karyotype (AML-CK) and AML with complex karyotype and TP53 mutations (AML-TP53) compared with AML with normal karyotype (AML-NK).MethodsTwenty-five cases of AML-CK, 13 of which had abnormalities of TP53, were compared with 83 cases of AML-NK using FCI.ResultsOur findings demonstrated brighter expression of CD34 with decreased CD33 and aberrant expression of CD5 in blasts of AML-CK, while AML-TP53 blasts exhibited brighter expression of CD13. Granulocytes in AML-CK exhibited brighter expression of CD5, CD7, CD10 and CD14, with brighter CD3 also seen in AML-TP53.ConclusionsOur results suggest that immunophenotypic dysplasia correlates with complex karyotype and TP53 mutation, including increased expression of T-cell antigens.

scholarly journals Beneficial role of increased FOXP3+ regulatory T-cells in acute myeloid leukaemia therapy response

2017 ◽  
Vol 182 (4) ◽  
pp. 581-583 ◽  
Author(s):  
Thomas Menter ◽  
Boris Kuzmanic ◽  
Christoph Bucher ◽  
Michael Medinger ◽  
Joerg Halter ◽  
...  
Keyword(s):  
T Cells ◽  
Regulatory T Cells ◽  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Therapy Response ◽  
Beneficial Role ◽  
Leukaemia Therapy ◽  
Acute Myeloid

scholarly journals Role of alternative polyadenylation dynamics in acute myeloid leukaemia at single-cell resolution

RNA Biology ◽  
2019 ◽  
Vol 16 (6) ◽  
pp. 785-797 ◽  
Author(s):  
Congting Ye ◽  
Qian Zhou ◽  
Yiling Hong ◽  
Qingshun Quinn Li
Keyword(s):  
Acute Myeloid Leukaemia ◽  
Single Cell ◽  
Myeloid Leukaemia ◽  
Alternative Polyadenylation ◽  
Acute Myeloid

scholarly journals N6-Methyladenosine Role in Acute Myeloid Leukaemia

2018 ◽  
Vol 19 (8) ◽  
pp. 2345 ◽  
Author(s):  
Zaira Ianniello ◽  
Alessandro Fatica
Keyword(s):  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Cellular Differentiation ◽  
Normal Development ◽  
Rna Modifications ◽  
Deep Impact ◽  
Rna Molecules ◽  
Post Transcriptional Regulation ◽  
Acute Myeloid

We are currently assisting in the explosion of epitranscriptomics, which studies the functional role of chemical modifications into RNA molecules. Among more than 100 RNA modifications, the N6-methyladenosine (m6A), in particular, has attracted the interest of researchers all around the world. m6A is the most abundant internal chemical modification in mRNA, and it can control any aspect of mRNA post-transcriptional regulation. m6A is installed by “writers”, removed by “erasers”, and recognized by “readers”; thus, it can be compared to the reversible and dynamic epigenetic modifications in histones and DNA. Given its fundamental role in determining the way mRNAs are expressed, it comes as no surprise that alterations to m6A modifications have a deep impact in cell differentiation, normal development and human diseases. Here, we review the proteins involved in m6A modification in mammals, m6A role in gene expression and its contribution to cancer development. In particular, we will focus on acute myeloid leukaemia (AML), which provides an initial indication of how alteration in m6A modification can disrupt normal cellular differentiation and lead to cancer.

scholarly journals Detailed molecular characterisation of acute myeloid leukaemia with a normal karyotype using targeted DNA capture

Leukemia ◽  
2013 ◽  
Vol 27 (9) ◽  
pp. 1820-1825 ◽  
Author(s):  
N Conte ◽  
I Varela ◽  
C Grove ◽  
N Manes ◽  
K Yusa ◽  
...  
Keyword(s):  
Acute Myeloid Leukaemia ◽  
Myeloid Leukaemia ◽  
Normal Karyotype ◽  
Molecular Characterisation ◽  
Dna Capture ◽  
Acute Myeloid
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