Genomic imprinting of H19 and insulin‐like growth factor‐2 in pediatric germ cell tumors

Ross, Julie A.; Schmidt, Peter T.; Perentesis, John P.; Davies, Stella M.

doi:10.1002/(sici)1097-0142(19990315)85:6<1389::aid-cncr24>3.3.co;2-m

Cited by 13 publications

(15 citation statements)

References 9 publications

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“…The consistent expression of both parental alleles of the H19 and IGF2 genes implies that TGCTs may develop from precursor cells that have either erased their imprint or been subjected to a relaxation of the normal monoallelic expression of these genes ensuing from demethylation at the imprinted allele (van Gurp et al, 1994). This is consistent with the finding of Ross and colleagues who also demonstrated loss of imprinting (LOI) of H19 and IGF-2 genes in both pediatric and TYA GCTs (Ross et al, 1999). Their results suggested that while LOI of H19 and IGF-2 may be common in pediatric and TYA TGCTs, there was a variable pattern of LOI in ovarian GCTs in these age groups, which was proposed to reflect the stage of imprinting during germ cell development at which tumorigenesis occurred.…”

Section: Genomic Imprintingsupporting

confidence: 82%

“…When compared with adult TGCTs, the frequency of LOI was lower in pediatric testicular and extragonadal GCTs and in TYA ovarian GCTs. As such, LOI of H19 and IGF-2 has been found in the pediatric, TYA and older adult populations although LOI patterns varied across the three populations (van Gurp et al, 1994;Nonomura et al, 1997;Ross et al, 1999;Schneider et al, 2001). Although this suggests that these tumors all arise from PGCs, this may nevertheless occur at different stages of germ cell development.…”

Section: Genomic Imprintingmentioning

confidence: 97%

“…Regardless of patient age, tumor site, and histological subtype, all GCTs are believed to originate from primordial germ cells (PGCs) (Teilum, 1965). The histological appearance of these tumors varies depending on the degree of germ cell differentiation when carcinogenesis takes place (Ross et al, 1999). GCTs can be separated into two major histological subgroups, seminomatous and nonseminomatous tumors.…”

Section: Introductionmentioning

confidence: 99%

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Age‐related biological features of germ cell tumors

Collinson

Murray

Orsi

et al. 2013

Genes Chromosomes & Cancer

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Germ cell tumours (GCTs) are rare but clinically and pathologically diverse tumours that occur in an extensive range of age groups, from children to older adults and which include both seminomatous and nonseminomatous tumours. Current clinical management for both male and female teenagers and young adults (TYAs) with GCTs remains inconsistent, alternating between paediatric and adult multidisciplinary oncology teams, based on locally defined age cut-offs. We therefore reviewed available literature to determine the biological similarities and differences between GCTs in young children [0-12 years (y)], TYAs (13-24y), and older adults (>24y). GCTs arising in paediatric and adult populations in general showed marked molecular biological differences within identical histological subtypes, whereas there was a distinct paucity of available data for GCTs in the TYA population. These findings highlight that clinical management based simply on chronological age may be inappropriate for TYA and suggests that the optimal future management of GCTs should consider specific molecular biological factors in addition to clinical parameters in the context of patient specific age group specialty. 3 AimsThe aim of this review was to analyse molecular biological studies of germ cell tumours (GCTs) arising in the paediatric (≤12y) and older adult (>24y) age groups for key similarities and differences in an attempt to identify where the biology of GCTs from teenagers and young adult (TYA) patients lies within this framework. The review discusses current knowledge in this area and also highlights gaps that still need to be addressed. In the UK, the TYA age group includes male and females aged 13-24y; accordingly we have used this definition for the purposes of this review).The aims were achieved through a synthesis and analysis of available biological data for GCTs in children, TYAs and older adults. We anticipated that the goal would be to use a combination of both clinical and biological risk factors to improve clinical management decisions for TYA patients with GCTs (Murray et al., 2009).

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Section: Genomic Imprintingsupporting

confidence: 82%

Section: Genomic Imprintingmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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Age‐related biological features of germ cell tumors

Collinson

Murray

Orsi

et al. 2013

Genes Chromosomes & Cancer

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“…At present, the various histological sub-entities of GCTs at all sites and of all age groups are grouped together in keeping with the theoretical concept by Teilum that all subtypes share a common cell of origin, the totipotent primordial germ cell (PGC) [1]. Recently, this hypothesis has received strong experimental support as several studies of imprinting status in GCTs have revealed that an imprinting pattern characteristic of PGCs-although at different stages of development-can be detected in GCTs of various histologies, both at gonadal and non-gonadal sites [2,3,37,38]. Given the common cellular origin of GCTs [2], the question arises regarding the biologic mechanisms behind the clinical, histologic, and genetic heterogeneity that is seen.…”

Section: Common Histogenesis But Heterogeneity Of Gctsmentioning

confidence: 67%

Epidemiologic analysis of 1,442 children and adolescents registered in the German germ cell tumor protocols

Schneider

Calaminus

Koch

et al. 2003

Pediatric Blood & Cancer

226

135

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Two separate groups of GCTs with distinct clinical features relevant for differential diagnosis and the diagnostic assessment can be distinguished. This observation correlates with genetic studies that reveal different genetic changes in childhood and adolescence GCTs. Further studies are needed to elucidate the molecular mechanisms of germ cell and GCT development that account for the age- and sex-dependent clinical manifestation.

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“…Current methods for evaluating allele-specific expression have a number of limitations. PCR followed by restriction endonuclease digestion is a traditional method, 5,6 but the efficiency of restriction endonucleases is incomplete. Mispaired heteroduplex DNA is commonly formed during PCR amplification and cannot be cleaved, resulting in allelic skewing.…”

Section: Introductionmentioning

confidence: 99%

Pyrosequencing for the rapid and efficient quantification of allele-specific expression

et al. 2013

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We have developed a rapid and sensitive quantitative assay for the measurement of individual allelic ratios. This assay minimizes time and labor, the need for special restriction endonuclease enzymes for polymorphic sites, and avoids heteroduplex formation seen with traditional quantitative PCR-based methods. It has improved sensitivity compared to other methods and is capable of distinguishing 1% differences in allelic expression. This assay, termed Pyrosequencing for Imprinted Expression (PIE), involves the use of an intron-crossing PCR primer to generate the first PCR product. We applied the assay to analyze Insulin-like Growth Factor-2 (IGF2) imprinting in both human and mouse prostate tissues.

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Genomic imprinting of H19 and insulin‐like growth factor‐2 in pediatric germ cell tumors

Abstract: These data suggest that LOI at H19 and IGF2 also may be common in pediatric testicular GCTs. However, ovarian and extragonadal pediatric GCTs showed variable patterns of LOI that may indicate differences in the timing of carcinogenesis in germ cells at these sites.

Cited by 13 publications

References 9 publications

Age‐related biological features of germ cell tumors

Age‐related biological features of germ cell tumors

Epidemiologic analysis of 1,442 children and adolescents registered in the German germ cell tumor protocols

Pyrosequencing for the rapid and efficient quantification of allele-specific expression

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