scholarly journals SALL4 is a novel sensitive and specific marker for metastatic germ cell tumors, with particular utility in detection of metastatic yolk sac tumors

Cancer ◽  
2009 ◽  
Vol 115 (12) ◽  
pp. 2640-2651 ◽  
Author(s):  
Dengfeng Cao ◽  
Peter A. Humphrey ◽  
Robert W. Allan
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Yolk Sac ◽  
Specific Marker ◽  
Yolk Sac Tumors

scholarly journals Parental occupation and childhood germ cell tumors: a case–control study in Denmark, 1968–2016

2021 ◽  
Author(s):  
Clinton Hall ◽  
Johnni Hansen ◽  
Jørn Olsen ◽  
Di He ◽  
Ondine S. von Ehrenstein ◽  
...  
Keyword(s):  
Germ Cell ◽  
Maternal Employment ◽  
Case Control Study ◽  
Germ Cell Tumors ◽  
Social Contact ◽  
Case Control ◽  
Yolk Sac ◽  
Parental Occupation ◽  
Yolk Sac Tumors ◽  
Control Study

Abstract Purpose To examine associations between parental occupation and childhood germ cell tumors (GCTs) in offspring while distinguishing by common histologic subtype (i.e., yolk sac tumor and teratoma). Methods This population-based case–control study included childhood GCT cases in Denmark diagnosed 1968–2015 (< 16 years old at diagnosis) and sex and birth year-matched controls. Demographic information and parental employment histories were obtained from Danish registries. Parental occupation was assessed by industry; job-exposure matrices were used to examine specific occupational exposures (i.e., potentially carcinogenic organic solvents and social contact). Conditional multivariable logistic regression models were used to estimate odds ratios (OR) and 95% confidence intervals (CIs). Results Overall, 178 childhood GCT cases (50 yolk sac tumors; 65 teratomas) and 4,355 controls were included for analysis. Maternal employment in education during pregnancy was associated with offspring GCTs (OR 2.45, 95% CI 1.23–4.90), especially yolk sac tumors (OR 5.27, 95% CI 1.94–14.28). High levels of both maternal and paternal occupational social contact were also associated with offspring yolk sac tumors across all exposure periods (ORs 2.30–4.63). No signals were observed for paternal occupational solvent exposure, while imprecise associations were estimated for maternal exposure (e.g., dichloromethane exposure during pregnancy, OR 1.51, 95% CI 0.77–2.95). Conclusion Our findings suggest that parental occupation is associated with offspring GCTs, with most consistent evidence supporting an association between maternal employment in education or other high social contact jobs and offspring yolk sac tumors.

Site of metastases does not influence the clinical outcome of children with metastatic Germ Cell Tumors (GCT). A report from the Childrens Oncology Group (COG)

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 9002-9002
Author(s):  
M. H. Malogolowkin ◽  
W. B. London ◽  
B. Cushing ◽  
R. Giller ◽  
M. Davis ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Stage Iv ◽  
Yolk Sac ◽  
Cell Tumor ◽  
High Dose ◽  
Metastatic Site ◽  
Yolk Sac Tumors

9002 Background: To describe the clinical outcome of children with metastatic GCT (stage IV) at diagnosis according to the primary metastatic site(s). Methods: From March 1990 to February 1996, 299 children and adolescents with stage III/IV gonadal and stage I-IV extragonadal GCT were eligible for a Pediatric Intergroup high-risk (HR) GCT trial. Patients were randomized to receive 4–6 courses of cisplatin (P) standard dose [ 20 mg/m2/day (d) × 5] or high-dose (HDP) [40 mg/m2/d × 5] with etoposide (E) 100 mg/m2/d × 5 and bleomycin (B) 15 mg/m2 on d1. We retrospectively investigated the outcome of patients with stage IV and compared their outcome according to metastatic site(s). Results: There were 133 patients with stage IV disease. The median age was 2.6 years (y) [range, 3 d-19.3 y], 70 were female. Primary sites included: 43 testicular, 14 ovarian, 76 extragonadal (45 sacroccocygeal, 28 mediastinal, 3 other). Histologies included: 66 pure yolk sac tumors, 21 immature teratomas and yolk sac tumors, 26 mixed germ cell tumors, 7 pure germinoma/seminoma/dysgerminomas, 1 immature teratoma with a non-classic germ cell tumor, 2 mixed germ cell tumor admixed with a nonclassic germ cell tumor, 5 pure choriocarcinomas, and 5 patients with unknown histology. There were no statistically significant differences in the 5-year EFS or OS rates by site of metastases. Of the 19 patients with either bone or brain involvement, 17 patients had bone and 3 had brain metastases. Conclusion: The outcome for patients with metastatic GCT is excellent with contemporary cisplatin-based regimes and is independent of the site of metastatic disease. [Table: see text] No significant financial relationships to disclose.

Surveillance alone in stage I malignant ovarian germ cell tumors: a MITO (Multicenter Italian Trials in Ovarian cancer) prospective observational study

2021 ◽  
pp. ijgc-2021-002575
Author(s):  
Giorgia Mangili ◽  
Giorgio Giorda ◽  
Gabriella Ferrandina ◽  
Gennaro Cormio ◽  
Chiara Cassani ◽  
...  
Keyword(s):  
Germ Cell ◽  
Prospective Observational Study ◽  
Germ Cell Tumors ◽  
Yolk Sac ◽  
Stage I ◽  
Routine Surveillance ◽  
Yolk Sac Tumors ◽  
Group A ◽  
Stage Ia ◽  
Group B

ObjectiveThe aim of this study was to analyze the oncological outcome of stage I malignant ovarian germ cell tumors patients included in the MITO-9 study to identify those who might be recommended routine surveillance alone after complete surgical staging.MethodsMITO-9 was a prospective observational study analyzing data collected between January 2013 and December 2019. Three groups were identified: group A included 13 patients stage IA dysgerminoma and IAG1 immature teratoma; group B included 29 patients with stage IB–C dysgerminomas, IA–C G2–G3 immature teratomas and stage IA mixed malignant ovarian germ cell tumors and yolk sac tumors; and group C included five patients (two patients with stage IC1 and one patient with stage IC2 yolk sac tumors and two patients with mixed-stage IC2 malignant ovarian germ cell tumors).ResultsA total of 47 patients with stage I conservatively treated malignant ovarian germ cell tumors were analyzed. Two patients in group B were excluded from the routine surveillance alone group due to positive surgical restaging. Therefore, a total of 45 patients were included in the study. Median follow-up was 46.2 months (range; 6–83). In total, 14 of 45 patients (31.1%) received chemotherapy, while 31 (68.9%%) underwent surveillance alone. One patient in group A, with stage IA dysgerminoma had a relapse, successfully managed with conservative surgery and chemotherapy. None of the patients in group B and C relapsed. All patients were alive at completion of the study. Overall, among 31 patients (68.9%) who underwent surveillance alone, only one patient relapsed but was treated successfully.ConclusionsOur data showed that close surveillance alone could be an alternative option to avoid adjuvant chemotherapy in properly staged IB–C dysgerminomas, IA–IC G2–G3 immature teratomas, and IA mixed malignant ovarian germ cell tumors with yolk sac tumor component.

scholarly journals Comprehensive genetic analysis of pediatric germ cell tumors identifies potential drug targets

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Yasuo Kubota ◽  
Masafumi Seki ◽  
Tomoko Kawai ◽  
Tomoya Isobe ◽  
Misa Yoshida ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Germ Cell ◽  
Binding Sites ◽  
Drug Targets ◽  
Single Nucleotide Polymorphism Array ◽  
Germ Cell Tumors ◽  
Yolk Sac ◽  
Array Analysis ◽  
Methylation Array ◽  
Yolk Sac Tumors

Abstract 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.

Many Postchemotherapy Sarcomatous Tumors in Patients With Testicular Germ Cell Tumors Are Sarcomatoid Yolk Sac Tumors

2015 ◽  
Vol 39 (2) ◽  
pp. 251-259 ◽  
Author(s):  
Brooke E. Howitt ◽  
Martin J. Magers ◽  
Kevin R. Rice ◽  
Cristina D. Cole ◽  
Thomas M. Ulbright
Keyword(s):  
Germ Cell ◽  
Germ Cell Tumors ◽  
Yolk Sac ◽  
Testicular Germ Cell Tumors ◽  
Testicular Germ Cell ◽  
Yolk Sac Tumors

scholarly journals Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Xuan Zong ◽  
Ying Zhang ◽  
Xinxin Peng ◽  
Dongyan Cao ◽  
Mei Yu ◽  
...  
Keyword(s):  
Copy Number Alteration ◽  
Germ Cell Tumors ◽  
Gonadal Development ◽  
Yolk Sac ◽  
Mutational Signatures ◽  
Whole Exome ◽  
Genomic Landscape ◽  
Yolk Sac Tumors ◽  
Molecular Aberrations

AbstractYolk sac tumors (YSTs) are a major histological subtype of malignant ovarian germ cell tumors with a relatively poor prognosis. The molecular basis of this disease has not been thoroughly characterized at the genomic level. Here we perform whole-exome and RNA sequencing on 41 clinical tumor samples from 30 YST patients, with distinct responses to cisplatin-based chemotherapy. We show that microsatellite instability status and mutational signatures are informative of chemoresistance. We identify somatic driver candidates, including significantly mutated genes KRAS and KIT and copy-number alteration drivers, including deleted ARID1A and PARK2, and amplified ZNF217, CDKN1B, and KRAS. YSTs have very infrequent TP53 mutations, whereas the tumors from patients with abnormal gonadal development contain both KRAS and TP53 mutations. We further reveal a role of OVOL2 overexpression in YST resistance to cisplatin. This study lays a critical foundation for understanding key molecular aberrations in YSTs and developing related therapeutic strategies.

scholarly journals A Rare Case of Primary Anterior Mediastinal Yolk Sac Tumor in an Elderly Adult Male

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
Sammy G. Nakhla ◽  
Srinath Sundararajan
Keyword(s):  
Germ Cell ◽  
Rare Case ◽  
Germ Cell Tumors ◽  
Anterior Mediastinum ◽  
Yolk Sac ◽  
Yolk Sac Tumor ◽  
Elderly Adult ◽  
Children And Young Adults ◽  
Extragonadal Germ Cell Tumors ◽  
Mediastinal Germ Cell Tumors

Mediastinal germ cell tumors are extragonadal germ cell tumors (EGGCTs) commonly seen in children and young adults. They are more common in men. Clinically they are classified as teratomas, seminomas, and nonseminomatous germ cell tumors. Primary mediastinal yolk sac neoplasm is an extremely rare tumor. We present here a very rare case of primary yolk sac tumor of the anterior mediastinum in a 73-year-old male. Mediastinal germ cell tumors have a worse prognosis than gonadal germ cell tumors. Chemotherapy followed by adjuvant surgery improves overall response in EGGCTs. However, comorbidities can render treatment with chemotherapy and surgery challenging in elderly patients.

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