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Germ Cell Tumor - Springer Nature

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Last Updated: 15 August 2022

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Clonal diversification and histogenesis of malignant germ cell tumours

To determine germ cell tumour formation and histological diversification, it is crucial to understand their evolution and histological diversification. The authors use whole-genome and transcriptome sequencing of GCTs from diverse histologies to reveal their somatic evolution and clone diversification, as well as identifying several key biomarkers for treatment stratification. Germ cell tumors are a collection of benign and malignant neoplasms derived from primordial germ cells. The developmental pathways supporting GCT origination and histogenesis are not fully understood. Here, we investigate the relationship between histogenesis and clonal diversification in GCTs by analyzing the genomes and transcriptomes of 547 microdissected histological units. However, we do find unifying traits such as the retention of fetal developmental transcripts across tissues, gene expression changes on chromosome 12p, and a conserved somatic evolutionary sequence of whole genome duplication followed by clonal diversification. In addition, tumours of younger children have distinct substitution signatures, which may be useful biomarkers for risk stratification.

Source link: https://doi.org/10.1038/s41467-022-31375-4


An international study evaluating the epidemiology of intracranial germ cell tumors in the native versus immigrant Japanese populations: the need for an international registry

In Western countries, pediatric intra-cranial germ cell tumors account for 0. 6 percent of the population in 0. 6 percent/million/year. Methods The incidence of iGCTs in children aged 0 to 30 years old in stable Japanese immigrant groups living abroad in comparison to recent native Japanese registry results was reviewed from December 1st, 1996 to December 1st, 2016. Based on historical and population data of known large-scale migration from Japan during a period of industrial growth from 1868-1912, which resulted in large, stable Japanese immigrant populations around the world, the sites were mapped. Results A analysis of the Brain Tumor Registry of Japan from 1984 to 2004, revealed a prevalence of 2. 5 cases/million/year, lower than previously reported, and a reduced incidence of medulloblastoma at 1. 2 cases/million/year. In our study, an increase in incidence in native Japan may not translate to elevated incidence among immigrant Japanese populations abroad, but there was no such evidence in our study.

Source link: https://doi.org/10.1007/s11060-022-04094-5


A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors

Intracranial germ cell tumors are rare brain tumors that most often occur in children and adolescents, with a high incidence in East Asian populations. We've built a genome-wide association study of 133 patients with IGCTs and 762 controls of Japanese ancestry. An enhancer near BAK1 is highly correlated with the disease risk, with a common 4-bp deletion polymorphism. The effect sizes of the Japanese IGCTs GWAS show significant positive correlations in the effect sizes between the two risk alleles of testicular GCTs isolated from the European GWAS. Intracranial germ cell tumors are rare brain tumors that are primarily present in children and young adults.

Source link: https://doi.org/10.1038/s41467-022-32005-9


Germ cell tumors with neuroglial differentiation do not show molecular features akin to their central nervous system counterpart: experience from extra-gynecological sites

Teratomas with secondary somatic malignancy showing neuroglial differentiation steming from a glial or neuroepithelial component is a rare occurrence that is mainly described in the ovary. In the extra-gynecological areas, we attempted to describe the morphological spectrum and molecular characteristics of CNS-type neuroepithelial tumors arising from the germ cell tumors. All cases of teratoma and mixed GCT arising from non-gynecological centers over seven years were tested for CNS-type neuroepithelial tumors. In 15 cases out of a total of 322 GCTs tested, the neuroglial tumor was found in 15 cases. The ETMR cases did not include Lin28 expression or C19MC amplification. The variety of neuroglial tumors resulting from teratoma in the extragonadal area is extensive, and the most common are glial neoplasms and embryonal tumors. To conclude, Our results show that tumors with neuroglial differentiation in teratoma are distinct from their CNS counterparts.

Source link: https://doi.org/10.1007/s00428-022-03354-z


Parental occupational exposures in wood-related jobs and risk of testicular germ cell tumours in offspring in NORD-TEST a registry-based case–control study in Finland, Norway, and Sweden

Objective We investigated the connection between parental prenatal exposures in wood-related jobs and the risk of testicular germ cell tumours in offspring. Methods NORD-TEST, a registry-based case-control study in Sweden, Finland, and Norway, contained 8112 TGCT patients diagnosed between 1978 and 2012 with no history of prior cancer, and up to four controls matched to each case based on year and country of birth. Each parent was given a job-exposure matrix by the Nordic Occupational Cancer Study. Results Maternal wood-related occupations were not linked to the risk of TGCT in offspring, but paternal wood-related occupations were not associated with a reduced risk of TGCT in offspring. Conclusion This large-scale NORD-TEST study found no evidence that there is a correlation between parental prenatal exposures in wood-related professions and TGCT in sons.

Source link: https://doi.org/10.1007/s00420-021-01818-4


Cyst stem cell lineage eIF5 non-autonomously prevents testicular germ cell tumor formation via eIF1A/eIF2γ-mediated pre-initiation complex

Background In Drosophila testes, stem cell population identity is maintained and is vital for the homeostasis of self-renewal and differentiation. However, the mechanisms of CySC lineage signals-mediated soma's response to external stimuli are uncertain. In Drosophila testes, genetic interaction analysis was used to determine the correlations between eIF5 and eIF2B3 respectively. Result Here, we found that eIF5 mediates cyst cell differentiation and the non-autonomically influenced germ cell differentiation process in CySCs. During spermatogenesis, CySCs lacking eIF5 displayed unbalanced cell proliferation and apoptosis, resulting in testicular germ cell tumors in spermatogenesis. Multiple metabolic pathways and several key factors that may be involved in germ cell differentiation and TGCT formation were identified by an eIF5 transcriptional regulation network analysis, which indicated multiple metabolic pathways and several key variables that could be involved in germ cell differentiation and TGCT formation. Conclusions These results showed that CySC lineage eIF5 in Drosophila testes, along with eIF1A or eIF2b3, is a network that promotes soma u2013germline communications for the stem cell niche homeostasis, giving new insights into TGCT prevention.

Source link: https://doi.org/10.1186/s13287-022-03025-5


Predicted leukocyte telomere length and risk of germ cell tumours

In infants and adults, we determine whether genetically predicted longer LTL is linked to germ cell tumors. Within GCT subgroups, Mendelian randomization was used to investigate the connection between genetically predicted LTL and GCTs and TERT variants. In comparison, we did not find solid evidence for an association between genetically predicted LTL by other variants and GCT risk in infants or adults. Conclusion Although TERT is a well-known susceptibility locus for GCT, our results show that LTL predicted by other brands is not particularly related to mortality in either children or adults.

Source link: https://doi.org/10.1038/s41416-022-01798-3

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions