To elucidate the molecular pathogenesis of pediatric germ cell tumors (GCTs), we performed DNA methylation array analysis, whole transcriptome sequencing, targeted capture sequencing, and single-nucleotide polymorphism array analysis using 51 GCT samples (25 female, 26 male), including 6 germinomas, 2 embryonal carcinomas, 4 immature teratomas, 3 mature teratomas, 30 yolk sac tumors, and 6 mixed germ cell tumors. Among the 51 samples, 11 were from infants, 23 were from young children, and 17 were from those aged ≥10 years. Sixteen of the 51 samples developed in the extragonadal regions. Germinomas showed upregulation of pluripotent genes and global hypomethylation. Pluripotent genes were also highly expressed in embryonal carcinomas. These genes may play essential roles in embryonal carcinomas given that their binding sites are hypomethylated. Yolk sac tumors exhibited overexpression of endodermal genes, such as GATA6 and FOXA2, the binding sites of which were hypomethylated. Interestingly, infant yolk sac tumors had different DNA methylation patterns from those observed in older children. Teratomas had higher expression of ectodermal genes, suggesting a tridermal nature. Based on our results, we suggest that KIT, TNFRSF8, and ERBB4 may be suitable targets for the treatment of germinoma, embryonal carcinomas, and yolk sac tumors, respectively.
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http://dx.doi.org/10.1038/s42003-020-01267-8 | DOI Listing |
Virchows Arch
January 2025
Histology Laboratory, Children's Health Ireland, Dublin, Ireland.
Paediatric renal tumours include a broad range of neoplasms which largely differ, but also overlap to a smaller extent, with adult kidney cancer. These include the embryonal tumour nephroblastoma, which accounts for the majority of cases of kidney cancer in the first decade of life and, despite boasting a cure in ~ 90% cases, still presents clinical challenges in a small proportion of cases. A variety of less common mesenchymal tumours, including the mostly indolent congenital mesoblastic nephroma, clear cell sarcoma of kidney which continues to be associated with poor outcomes for higher stage disease, and the typically lethal malignant rhabdoid tumour, form the bulk of the remaining presentations in the first decade.
View Article and Find Full Text PDFChildren (Basel)
November 2024
Pediatric Surgery Unit, Salesi Children's Hospital, Polytechnic University of Marche, Via Filippo Corridoni, 16, 60123 Ancona, Italy.
Background And Aim: Ex vivo fluorescence confocal microscopy (FCM) systems are innovative optical imaging tools that create virtual high-resolution histological images without any standard tissue processing, either freezing or fixing in formalin and embedding in paraffin. These systems have opened an era that would revolutionize pathological examination by providing rapid, real-time assessments across various pathology subspecialties, potentially replacing conventional methods that are tissue- and time-consuming. This study aimed to present the first utilization of FCM in pediatric surgical oncology, focusing on assessing the benefits, particularly in facilitating rapid and accurate diagnosis.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Biochemistry & Biotechnology, School of Health Sciences, University of Thessaly, 41335 Larissa, Greece.
Background/objectives: Testicular germ cell tumors (TGCT) are common in young adult men and have high cure rates. Conventional serum tumor markers and imaging are not able to differentiate between histologic subtypes of the disease, which portend different prognoses and require distinct therapeutic strategies. Micro-RNAs (miRNAs) are small non-coding transcripts involved in the post-transcriptional regulation of gene expression, which have emerged as promising biomarkers in a variety of tumors.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, 362000, Fujian, China.
Amniotic fluid (AF)-derived exosomal miRNA have been explored as potential contributors to the pathogenesis of Tetralogy of Fallot (TOF). This study aimed to investigate the expression profiles of AF-derived exosomal miRNAs and their potential contribution to TOF development. Exosomes were isolated from AF samples obtained from pregnant women carrying fetuses diagnosed with TOF.
View Article and Find Full Text PDFAndrology
December 2024
Cancer Biology and Epigenetics Group, Research Center of IPO Porto (CIIPOP)/CI-IPOP@RISE (Health Research Network), Portuguese Oncology Institute of Porto (IPO Porto)/Porto Comprehensive Cancer Center Raquel Seruca (Porto.CCC Raquel Seruca), Porto, Portugal.
Background: Testicular germ cell tumors are the most common solid malignancies in young men, with increasing incidence worldwide. Broadly classified into seminomas and non-seminomas, they exhibit distinct biological behaviors and responses to treatment. Although metabolic reprogramming is an acknowledged cancer hallmark, metabolic pathways in testicular germ cell tumors remain poorly understood.
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