DNA methylation in Hepatoblastoma-a literature review

Shen, Gang; Shen, Huan; Zhang, Jing; Yan, Qingtao; Liu, Huixian

doi:10.1186/s13052-020-00877-6

Cited by 9 publications

(16 citation statements)

References 82 publications

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“…1%-7% [14,15] APC 7%-14% [14,19,20] ARID1A 2.9%-3.1% [16,17] NFE2L2/KEAP1, HGF/c-Met, PI3K/AKT/mTOR, SP/NK-1R, and IGF pathways. The role of these pathways in the development and progression of HB was recently reviewed by Zhang et al [21] . The low rate of mutations in HB together with the alteration of numerous signaling pathways provides evidence of the collaboration of additional mechanisms.…”

Section: Axin1mentioning

confidence: 99%

“…It is well known that the IGF (insulin-like growth factor) pathway is involved in HB development [21] . The activation of IGF signaling stimulates growth and metastasis in numerous human tumors such as myeloma [53] , HCC [54] , gastric cancer [55] , and lung cancer [56] , among others.…”

Section: Dna Methylation In Hepatoblastomamentioning

confidence: 99%

“…ZFAS1 expression is markedly upregulated in HB tissues and cells, which is linked to an aggressive phenotype of the tumor and poor outcome of the patients [192] . The mechanism underlying the function of ZFAS1 is based on the activation of the HGF/c-Met pathway, which is a key pathway in HB development [21,192] . Finally, a very recent study reported that HELIS and LIN01093 are lncRNAs that are downregulated in HB tumors, suggesting a possible role as biomarkers of this tumor [193] .…”

Section: Long Non-coding Rnas In Hbmentioning

confidence: 99%

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Epigenetics in hepatoblastoma

Clavería-Cabello¹,

Arechederra²,

Berasain³

et al. 2021

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Hepatoblastoma (HB) is the most frequent pediatric primary liver tumor. When the tumoral lesions can be resected, prognosis is generally favorable. However, there is a significant number of cases in which resection is not possible at diagnosis, and patients usually receive neo-adjuvant cisplatin-based chemotherapy prior to surgery. Unfortunately, some HBs develop resistance to initial chemotherapy or after recurrence, progressing to metastatic disease. Moreover, long-term side effects of chemotherapy remain a serious concern. Understanding the molecular bases of HB development and progression is thus essential for the identification of more efficacious therapies. HBs have a very low mutational burden, and the most frequent mutations occur in the CTNN1B gene (> 80% of cases) and to a lesser extent in NFE2L2 (~10% of cases). These observations suggest that other pathogenic processes besides genetic mutations may play a role in HB tumorigenesis. Epigenetic mechanisms encompass a variety of molecular processes with a tremendous potential to regulate gene expression. They include the covalent modifications of DNA and histones, the activity of enzymatic chromatin remodelers, and the expression of noncoding RNAs. Dysregulation of epigenetic processes has clearly become a hallmark of cancer. Regarding HB, recent studies have explored its epigenetic landscape, the expression of specific epigenetic effectors, and the tumorigenic consequences of epigenetic alterations. The reversible nature of most epigenetic modifications and the possibility to target non-coding RNAs may pave the way for new therapeutic avenues in HB. Here, we summarize and discuss the most relevant findings in this less explored aspect of HB.

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Section: Axin1mentioning

confidence: 99%

Section: Dna Methylation In Hepatoblastomamentioning

confidence: 99%

Section: Long Non-coding Rnas In Hbmentioning

confidence: 99%

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Epigenetics in hepatoblastoma

Clavería-Cabello¹,

Arechederra²,

Berasain³

et al. 2021

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“…Hepatoblastoma (HB) is the most common malignant embryonic tumor of the liver in children (most common under 3 years of age), accounting for approximately 79% of all pediatric malignant liver tumors, with an average annual incidence of 1.5 per million population ( 1 – 3 ). Abdominal masses are major clinical manifestations of HB ( 4 ).…”

Section: Introductionmentioning

confidence: 99%

Genotypic Characteristics of Hepatoblastoma as Detected by Next Generation Sequencing and Their Correlation With Clinical Efficacy

Zhang

Zhi

et al. 2021

Front. Oncol.

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BackgroundHepatoblastoma (HB) is the most common malignant embryonic liver tumor type in children under 3 years of age. In the present study, the next generation sequencing (NGS) method was used to detect the genotype characteristics of HB and summarize the correlation between the common mutation genotypes noted in this disease and the clinical treatment and prognosis. The results may aid clinical prognosis and the successful application of targeted drugs.MethodsInitially, DNA was extracted from tumor tissue specimens and peripheral blood derived from 19 pediatric patients with HB. Subsequently, DNA panel and NGS methods were used to detect tumor diagnosis and the expression levels of treatment-associated genes, followed by the summary of genotype characteristics. In addition, in order to further assess the application of immunotherapy in HB, immunohistochemical detection of programmed cell death 1 ligand 1 (PDL1) was performed in combination with tumor mutation burden (TMB) and DNA mismatch repair status analysis. Furthermore, the clinical treatment effect and prognosis of the pediatric patients were statistically analyzed according to the characteristics of the genotype. Overall prognosis and prognostic analyses in different groups were performed by Kaplan-Meier and log-rank tests, respectively. Finally, expression validation and diagnostic analysis of commonly reported genes were performed in the GSE75271 dataset, which was obtained from the Gene Expression Omnibus (GEO) database.ResultsIn the present study, certain mutated genes, including nuclear factor erythroid 2-related factor 2 (NFE2L2), catenin β1 (CTNNB1), MYCN, tumor protein p53, axis inhibition protein 1 (AXIN1) and adenomatous polyposis coli (APC) were associated with the pathogenesis of HB. During TMB and DNA mismatch repair status analyses, pediatric patients had a low TMB. All of them did not present with microsatellite instability. The immunohistochemical results indicated lower expression levels of PDL1 in HB. The complete remission (CR) rate of pediatric patients in the gene abnormality group was lower than that of the non-reported disease-associated gene abnormality group. The 2-year overall survival rate and disease-free survival rate of 19 pediatric patients with HB were 72.1% and 42.4%, respectively. Receiver operating characteristic (ROC) analysis demonstrated that CTNNB1, NFE2L2, AXIN1, APC, MYCN and insulin growth factor 2 (IGF2) may be potential biomarkers that could be used for the diagnosis of HB.ConclusionThe genotype changes in HB were more common and the CR rate of the pediatric patients with an altered genotype was lower than that of pediatric patients without an altered genotype. In addition, pediatric patients with HB exhibited lower TMB compared with adult patients. Moreover, the data indicated that CTNNB1, NFE2L2, AXIN1, APC, MYCN and IGF2 may be potential biomarkers that can be used for the diagnosis of HB.

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“…In the late 1990s, research showed that the existence of mutation of CTNNB1 (β-catenin gene) might lead to β-catenin accumulation, resulting in the development of hepatoblastoma ( 48 ). Some pathways related to hepatoblastoma molecular mechanisms were detected, including the well-studied Wnt/β-catenin and MYC pathways ( 49 ). However, research on the molecular basis in hepatoblastoma was limited.…”

Section: Single Nucleotide Polymorphisms With Hepatoblastomamentioning

confidence: 99%

The Genetic Changes of Hepatoblastoma

Chen

Guan

et al. 2021

Front. Oncol.

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Hepatoblastoma is the most common malignant liver cancer in childhood. The etiology of hepatoblastoma remains obscure. Hepatoblastoma is closely related to genetic syndromes, hinting that hepatoblastoma is a genetic predisposition disease. However, no precise exposures or genetic events are reported to hepatoblastoma occurrence. During the past decade, significant advances have been made in the understanding of etiology leading to hepatoblastoma, and several important genetic events that appear to be important for the development and progression of this tumor have been identified. Advances in our understanding of the genetic changes that underlie hepatoblastoma may translate into better patient outcomes. Single nucleotide polymorphisms (SNPs) have been generally applied in the research of etiology’s exploration, disease treatment, and prognosis assessment. Here, we reviewed and discussed the molecular epidemiology, especially SNPs progresses in hepatoblastoma, to provide references for future studies and promote the study of hepatoblastoma’s etiology.

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DNA methylation in Hepatoblastoma-a literature review

Cited by 9 publications

References 82 publications

Epigenetics in hepatoblastoma

Epigenetics in hepatoblastoma

Genotypic Characteristics of Hepatoblastoma as Detected by Next Generation Sequencing and Their Correlation With Clinical Efficacy

The Genetic Changes of Hepatoblastoma

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