ArticleCancer2018
Klinefelter syndrome in males with germ cell tumors: A report from the Children's Oncology Group.
Article in Cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Epidemiology and Risk Factors for Testicular Cancer: A Systematic Review.European urology · 2025Pooled it
- Incidence of Gonadal and Extragonadal Germ Cell Tumours in Patients With Klinefelter Syndrome.Andrology · 2026Article
- Impact of age at first visit on glycolipid metabolism, bone metabolism, and fertility potential in patients with Klinefelter syndrome.Andrology · 2026Article
- Precision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.Current oncology (Toronto, Ont.) · 2025Review
- Bridging Andrology and Oncology: Prognostic Indicators of Cancer Among Infertile Men.Current issues in molecular biology · 2025Review
- Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.BMJ paediatrics open · 2025Article
- Update on Physical, Psychological, and Quality of Life Management in Klinefelter Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- Standard-Dose Versus High-Dose Cisplatin for Intermediate/Poor-Risk Extracranial Malignant Germ Cell Tumors: Re-Analysis of Pediatric Oncology Group 9049 and Children's Cancer Group 8882 Trial Using Updated MaGIC Risk Stratification.Pediatric blood & cancer · 2025Article
- Management of pediatric testicular microlithiasis.Frontiers in pediatrics · 2025Review
- Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology.Virchows Archiv : an international journal of pathology · 2025Review
- Analysis of clinical characteristics, treatment patterns, and outcome of patients with bilateral testicular germ cell tumors.Discover oncology · 2024Article
- An intracranial yolk sac tumor with initial symptom of hemorrhage in the basal ganglia: a case report.Frontiers in oncology · 2024Article
- Article
- Children's Oncology Group's 2023 blueprint for research: Epidemiology.Pediatric blood & cancer · 2023Article
- Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.Endocrine connections · 2023Review
- Review
- Primary Mediastinal Germ Cell Tumors: A Thorough Literature Review.Biomedicines · 2023Review
- Neuroimaging of pediatric tumors of the sellar region-A review in light of the 2021 WHO classification of tumors of the central nervous system.Frontiers in pediatrics · 2023Review
- Histopathological features of giant mediastinal tumors-a literature review.Mediastinum (Hong Kong, China) · 2023Review
- Leveraging Clinical Trial Populations and Data from the Children's Oncology Group for Cancer Survivorship Research.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
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Authors and funding
9 authors.
Funding
Abstract
backgroundMales with Klinefelter syndrome (KS) (47,XXY) may be more likely to develop germ cell tumors (GCTs), particularly mediastinal GCTs. To date, there are no reports characterizing the prevalence of KS among male GCT cases.
methodsThe authors used array genotyping data from a Children's Oncology Group epidemiology study to estimate the prevalence of KS in males with GCTs (433 males aged birth-19 years). Using Fisher's exact tests, the authors examined differences in age at diagnosis, race/ethnicity, tumor location and histology, and several birth characteristics between cases of KS-GCT and GCT cases without chromosomal abnormalities. Using publicly available data, the authors estimated the 1-year risk, risk ratio, and corresponding 95% confidence interval of GCTs among KS cases.
resultsBased on analysis of array genotyping data, 3% of male GCT cases (13 cases) had KS. The additional X chromosome was of maternal origin in 7 of the 13 cases. Of these 13 KS cases, 5 of 9 KS-GCT cases with parental questionnaire data (56%) reported a diagnosis of KS. No significant differences were observed with regard to patient or birth characteristics between KS-GCT and non-KS-GCT cases. KS-GCT cases were significantly more likely to be diagnosed with mediastinal tumors than non-KS-GCT cases (P<.01). The authors estimated the risk of developing a GCT among males with KS to be 0.00025, or 1 per 4000 males (risk ratio, 18.8; 95% confidence interval, 11.7-30.0).
conclusionsCompared with males without chromosomal abnormalities, males with KS are more likely to be diagnosed with a mediastinal GCT. The presence of KS should be considered in males with a diagnosis of mediastinal GCT. In the current study, the authors report that approximately one-third of males with mediastinal germ cell tumors have Klinefelter syndrome, and therefore screening of these individuals for the syndrome may be warranted. Males with Klinefelter syndrome are 19 times as likely as males without Klinefelter syndrome to develop germ cell tumors.
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