ArticleNeoplasia (New York, N.Y.)1999
Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma.
Article in Neoplasia (New York, N.Y.), 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 99 citations in OpenAlex.
- Clinical Significance and Therapeutic Potential of Long Non-Coding RNA H19 in Soft Tissue Sarcoma.Cancer medicine · 2026Article
- The role of imprinting genes' loss of imprints in cancers and their clinical implications.Frontiers in oncology · 2024Review
- Article
- Long noncoding RNA (lncRNA)Genes & diseases · 2023Review
- Pediatric Rhabdomyosarcomas of the Genitourinary Tract.Cancers · 2023Review
- Genomic and Epigenetic Changes Drive Aberrant Skeletal Muscle Differentiation in Rhabdomyosarcoma.Cancers · 2023Review
- Prognostic Value, Immune Signature, and Molecular Mechanisms of the PHLDA Family in Pancreatic Adenocarcinoma.International journal of molecular sciences · 2022Article
- Splice-switching of the insulin receptor pre-mRNA alleviates tumorigenic hallmarks in rhabdomyosarcoma.NPJ precision oncology · 2022Article
- A Step Forward in Realizing the Promise of Genomic Medicine for Childhood Rhabdomyosarcoma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- Review
- Differential regulation of autophagy by STAU1 in alveolar rhabdomyosarcoma and non-transformed skeletal muscle cells.Cellular oncology (Dordrecht, Netherlands) · 2021Article
- Analysis of the Paternally-Imprinted DLK1-MEG3 and IGF2-H19 Tandem Gene Loci in NT2 Embryonal Carcinoma Cells Identifies DLK1 as a Potential Therapeutic Target.Stem cell reviews and reports · 2018Article
- A Loss of Epigenetic Control Can Promote Cell Death through Reversing the Balance of Pathways in a Signaling Network.Molecular cell · 2018Article
- PHLDA2 is a key oncogene-induced negative feedback inhibitor of EGFR/ErbB2 signaling via interference with AKT signaling.Oncotarget · 2018Article
- Iron, Oxidative Damage and Ferroptosis in Rhabdomyosarcoma.International journal of molecular sciences · 2017Review
- Novel Roles for Staufen1 in Embryonal and Alveolar Rhabdomyosarcoma via c-myc-dependent and -independent events.Scientific reports · 2017Article
- Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.American journal of medical genetics. Part A · 2016Article
- Human rhabdomyosarcoma cells express functional pituitary and gonadal sex hormone receptors: Therapeutic implications.International journal of oncology · 2016Article
- Uncovering metabolism in rhabdomyosarcoma.Cell cycle (Georgetown, Tex.) · 2016Review
- Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rhabdomyosarcomas are characterized by loss of heterozygosity (LOH) at chromosome region 11p15.5, a region known to contain several imprinted genes including insulin-like growth factor 2 (IGF2), H19, and p57(KIP2). We analyzed 48 primary tumour samples and found distinct genetic changes at 11p15.5 in alveolar and embryonal histological subtypes. LOH was a feature of embryonal tumours, but at a lower frequency than previous studies. Loss of imprinting (LOI) of the IGF2 gene was detected in 6 of 13 informative cases, all harbouring PAX3-FKHR or PAX7-FKHR fusion genes characteristic of alveolar histology. In contrast, H19 imprinting was maintained in 14 of 15 informative cases and the case with H19 LOI had maintenance of the IGF2 imprint indicating separate mechanisms controlling imprinting of IGF2 and H19. The adult promoter of IGF2, P1, was used in 5 of 14 tumours and its expression was unrelated to IGF2 imprinting status implying a further mechanism of altered IGF2 regulation. The putative tumour suppressor gene p57(KIP2) was expressed in 15 of 29 tumours and expression was unrelated to allele status. Moreover, in tumours with p57(KIP2) expression, there was no evidence for inactivating mutations, suggesting that p57(KIP2) is not a tumour suppressor in rhabdomyosarcoma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.