Familial CEBPA -mutated acute myeloid leukemia

Tawana, Kiran; Río-Machín, Ana; Preudhomme, Claude; Fitzgibbon, Jude

doi:10.1053/j.seminhematol.2017.04.001

Cited by 60 publications

(54 citation statements)

References 52 publications

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“…As with the other MDS/AML predisposition syndromes described, the single germline CEBPA mutation alone appears to be insufficient to induce AML. Individuals in the dozen or so pedigrees reported with a germline CEBPA mutation are clinically normal until the emergence of AML (180). The AML phenotype is uniform across pedigrees, usually featuring a French-American-British M1, M2, or M4 morphology with abnormal eosinophils and a normal karyotype (171).…”

Section: Thrombocytopenia 5 (Thc5)mentioning

confidence: 99%

Transcription factor mutations as a cause of familial myeloid neoplasms

Churpek¹,

Bresnick²

2019

Journal of Clinical Investigation

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Section: Thrombocytopenia 5 (Thc5)mentioning

confidence: 99%

Transcription factor mutations as a cause of familial myeloid neoplasms

Churpek¹,

Bresnick²

2019

Journal of Clinical Investigation

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“…(Figure 4) In this study we also observed that, only one SNP (D63N) the residue predicted to be mutated is evolutionarily conserved across species. (Figure 5) This study is the first in silico analysis while all other previous studies were NSG analysis, in vitro analysis and in vivo analysis (13,64,67,68) This study is the first in silico analysis was focused in coding region which revealed five novel mutations that have a possible functional effect and may therefore be used as diagnostic markers for Acute myeloid leukemia and may create an ideal target for cancer therapy. These findings combined with detailed understanding of normal human and murine haematopoiesis makes Acute myeloid leukemia an outstanding model for understanding the principles of cancer progression.…”

Section: Discussionmentioning

confidence: 92%

“…Single Nucleotide Polymorphisms (SNP) that found in this study could be used in prognostics of disease, because identification of CEBPA status in AML has major clinical importance, allowing relapse risk to be stratified properly for postremission treatment. (63,64) All these SNPs (R339W, R288P, N292S N292T and D63N) were retrieved from dbSNPs/NCBI database as untested, were found to be all novel pathogenic mutations.…”

Section: Discussionmentioning

confidence: 99%

In Silico Genetics Revealing Novel Mutations inCEBPAGene Associated with Acute Myeloid Leukemia

Mustafa¹,

Ns³

et al. 2019

Preprint

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Background: Myelodysplastic syndrome/Acute myeloid leukemia (MDS/AML) is a highly heterogeneous malignant disease; affects children and adults of all ages. AML is one of the main causes of death in children with cancer. However, It is the most common acute leukemia in adults, with a frequency of over 20 000 cases per year in the United States of America alone. Methods: The SNPs were retrieved from the dbSNP database. this SNPs were submitted into various functional analysis tools that done by SIFT, PolyPhen-2, PROVEAN, SNAP2, SNPs&GO, PhD-SNP and PANTHER, while structural analysis were done by I-mutant3 and MUPro. The most damaging SNPs were selected for further analysis by Mutation3D, Project hope, ConSurf and BioEdit softwares. Results: A total of five novel nsSNPs out of 248 missense mutations were predicted to be responsible for the structural and functional variations of CEBPA protein. Conclusion: In this study the impact of functional SNPs in the CEBPA gene was investigated through different computational methods, which determined that (R339W, R288P, N292S N292T and D63N) are novel SNPs have a potential functional effect and can thus be used as diagnostic markers and may facilitate in genetic studies with a special consideration of the large heterogeneity of AML among the different populations.

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“…Germline mutations can also confer a higher risk of relapse in AML or a predisposition to the development of a secondary leukemia, including therapy-related leukemias [12]. For example, between 5% and 7% of patients with CEBPA-mutated AML harbor germline mutations [13] and although the majority reach complete remission following chemotherapy, recurrent disease is frequent [13].…”

Section: Germline Mutationsmentioning

confidence: 99%

“…Myeloid neoplasms with germline mutation of GATA2 [6,[11][12][13], often mutated in therapy-related leukemias [12].…”

Section: With Other Organ Dysfunctionmentioning

confidence: 99%

A summary of the molecular testing recommended in acute myeloid leukemia

Stuckey¹,

Bilbao-Sieyro²,

Gómez‐Casares³

2020

Ann Mol Genet Med

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Advances in Next-Generation Sequencing technologies (NGS) are revealing germline and somatic mutations that, together with karyotype, determine the diagnosis and subtype of Acute Myeloid Leukemia (AML). Molecular testing is also essential for the genetic risk stratifi cation of patients with AML, in particular for those with normal karyotype AML (CN-AML), a large and highly heterogeneous group of patients. Patients determined to be at high risk could benefi t from a more aggressive fi rst-line therapy, or a more directed therapy, such as midostaurin (for FLT3-mutated AML) or ivosidenib (for IDH1-mutated AML). Here, we will summarize the molecular testing currently recommended in AML and introduce new mutations that may have prognostic value and clinical application in the near future.

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Familial CEBPA -mutated acute myeloid leukemia

Cited by 60 publications

References 52 publications

Transcription factor mutations as a cause of familial myeloid neoplasms

Transcription factor mutations as a cause of familial myeloid neoplasms

In Silico Genetics Revealing Novel Mutations inCEBPAGene Associated with Acute Myeloid Leukemia

A summary of the molecular testing recommended in acute myeloid leukemia

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