Expression of the HOX genes and HOTAIR in atypical teratoid rhabdoid tumors and other pediatric brain tumors

Chakravadhanula, Madhavi; Ozols, Victor; Hampton, Chris; Zhou, Li; Catchpoole, Daniel; Bhardwaj, Ratan D.

doi:10.1016/j.cancergen.2014.05.014

Cited by 40 publications

(43 citation statements)

References 18 publications

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“…The MRT specific super-enhancers blanketing the histone H2 gene cluster and the HOXC cluster (Figure 7C) were striking and in the latter case included the regulatory RNA HOTAIR , providing a possible explanation for the increase in HOTAIR expression previously reported in AT/RT (Chakravadhanula et al, 2014) that we also observed in MRT vs normal comparators (Figure 7D). We also observed high expression of HOXC gene members in MRT compared to normal cell types (Figure 7E).…”

Section: Resultssupporting

confidence: 69%

Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways

et al. 2016

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Summary Malignant rhabdoid tumors (MRT) are rare, lethal tumors of childhood that most commonly occur in the kidney and brain. MRT are driven by SMARCB1 loss, but the molecular consequences of SMARCB1 loss in extra-cranial tumors have not been comprehensively described and genomic resources for analyses of extra-cranial MRT are limited. To provide such data, we used whole genome sequencing, whole genome bisulfite sequencing, whole transcriptome (RNA-Seq) and miRNA sequencing (miRNA-Seq), and histone modification profiling to characterize extra-cranial MRT. Our analyses revealed gene expression and methylation sub-groups and focused on dysregulated pathways, including those involved in neural crest development.

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Section: Resultssupporting

confidence: 69%

Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways

et al. 2016

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“…Our results suggest that RT are characterized by an embryonic signature, and that this is true whatever age at diagnosis. Interestingly, the overexpression of HOX genes clusters and the negative regulator of HOXC, HOTAIR , is now consistently observed in several independent series [18–20]. Another interesting observation is the specific overexpression of TET1 and DNMT3B regulators of DNA methylation.…”

Section: Discussionmentioning

confidence: 88%

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers

et al. 2017

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Extra-cranial rhabdoid tumors (RT) are highly aggressive malignancies of infancy, characterized by undifferentiated histological features and loss of SMARCB1 expression. The diagnosis is all the more challenging that other poorly differentiated cancers lose SMARCB1 expression, such as epithelioid sarcomas (ES), renal medullary carcinomas (RMC) or undifferentiated chordomas (UC). Moreover, late cases occurring in adults are now increasingly reported, raising the question of differential diagnoses and emphasizing nosological issues. To address this issue, we have analyzed the expression profiles of a training set of 32 SMARCB1-deficient tumors (SDT), with ascertained diagnosis of RT (n = 16, all < 5 years of age), ES (n = 8, all > 10 years of age), UC (n = 3) and RMC (n = 5). As compared with other SDT, RT are characterized by an embryonic signature, and up-regulation of key-actors of de novo DNA methylation processes. Using this signature, we then analysed the expression profiling of 37 SDT to infer the appropriate diagnosis. Thirteen adult onset tumors showed strong similarity with pediatric RT, in spite of older age; by exome sequencing, these tumors also showed genomic features indistinguishable from pediatric RT. In contrary, 8 tumors were reclassified within carcinoma, ES or UC categories, while the remaining could not be related to any of those entities. Our results demonstrate that embryonic signature is shared by all RT, whatever the age at diagnosis; they also illustrate that many adult-onset SDT of ambiguous histological diagnosis are clearly different from RT. Finally, our study paves the way for the routine use of expression-based signatures to give accurate diagnosis of SDT.

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“…HOTAIR also regulates the varieties of genes involved in processes such as the cell cycle, cell migration and metastases, and tumor progression. HOTAIR promotes the occupancy and activity of polycomb repressive complex 2 (PRC2), which result in the transcription inhibition of the HOXD locus . HOXD cluster genes play an important role in the nervous system of developing embryos, and also were found to inhibit cell proliferation and induce differentiation of neuroblastoma .…”

Section: Discussionmentioning

confidence: 99%

“…Hox transcript antisense intergenic RNA ( HOTAIR ) is an approximately 2.2‐kilobase long noncoding RNA (lncRNA) regulating the Homeobox ( Hox ) genes, which play a pivotal role in gene regulation during embryonic development and are misexpressed in multiple tumors, including neuroblastoma . HOTAIR is transcribed from the antisense strand of the homeobox C ( HOXC ) gene on chromosome 12 and is coexpressed with HOXC genes .…”

Section: Introductionmentioning

confidence: 99%

HOTAIR gene polymorphisms contribute to increased neuroblastoma susceptibility in Chinese children

Chang

et al. 2018

Cancer

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Expression of the HOX genes and HOTAIR in atypical teratoid rhabdoid tumors and other pediatric brain tumors

Cited by 40 publications

References 18 publications

Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways

Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways

Embryonic signature distinguishes pediatric and adult rhabdoid tumors from other SMARCB1-deficient cancers

HOTAIR gene polymorphisms contribute to increased neuroblastoma susceptibility in Chinese children

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