The variants p.Trp406Arg and p.Pro428Leu were identified in the patient with Leydig cell neoplasia plus germ cell neoplasia in situ, and the p.Arg358Gln and p.Trp406Arg variants were identified in the patient with intratubular seminoma associated with invasive classic seminoma. Our findings reinforce the risk of testicular tumor development among 46,XY patients with 17OHD and add data to the discussion of the risk/benefit ratio of prophylactic gonadectomy in the treatment patients with 46, XY differences in sex development (DSD).
17 days ago
Journal
|
CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1)
Diffuse Sertoli cell tumor and seminoma presented more intense vimentin immunolabeling when compared to intratubular counterparts, suggesting this protein role in expansive tumoral behavior and seminiferous tubule rupture. Vimentin overexpression in canine testicular tumors can contribute to tumoral local invasion and consequently impairment of the remaining normal testicular tissue in affected dogs.
Moreover, the treatment course of this patient also reflects the importance of individualized treatment plans. Future research should further explore precision medicine strategies based on tumor genetic profiles to improve patient survival rates and quality of life.
2 months ago
Journal • IO biomarker
|
SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
LUZP4-IgG seropositivity and identification of retroperitoneal seminoma confirmed a paraneoplastic neurologic syndrome, which is a CD8+ T-cell-mediated disorder. Aggressive immunotherapy was initiated, resulting in clinical improvement. This case underscores the importance of identifying specific serologic biomarkers that can inform therapeutic decisions and improve outcomes.
P=N/A, N=30, Recruiting, Queen Mary University of London | Trial completion date: Dec 2027 --> Oct 2025 | Trial primary completion date: May 2027 --> Oct 2025
2 months ago
Trial completion date • Trial primary completion date
Hormonal cluster #1 or #3 is an independent prognostic factor regarding poor progression-free survival. Hormonal cluster assignment also affects the predicted drug response with cluster-dependent susceptibility to specific novel therapeutic compounds.
3 months ago
Journal
|
CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1) • GNRH1 (Gonadotropin Releasing Hormone 1) • HSD17B2 (Hydroxysteroid 17-Beta Dehydrogenase 2) • PRL (Prolactin) • SRD5A1 (Steroid 5 Alpha-Reductase 1) • STAR (Steroidogenic Acute Regulatory Protein)
P=N/A, N=956, Active, not recruiting, SWOG Cancer Research Network | Trial completion date: Oct 2026 --> Jan 2028 | Trial primary completion date: Jun 2026 --> Jan 2027
3 months ago
Trial completion date • Trial primary completion date
A FUS (exon 7)::CREM (exon 6) fusion was detected in two tumors and confirmed by FISH. This paraganglioma-like malignant neoplasm may belong to the group of FET::CREB-rearranged mesenchymal neoplasms, currently in the course of delineation, and points to its phenotypic diversity.
P2, N=120, Terminated, Swiss Group for Clinical Cancer Research | Trial completion date: Sep 2038 --> Jan 2025 | Active, not recruiting --> Terminated; Board decided to prematurely terminate the follow-up phase of the trial due to funding reasons
Mild elevations of AFP in TCS may lead to diagnostic uncertainty or inappropriate management and investigation. However, AFP changes, alongside imaging, did not affect diagnosis, therapy, or follow-up at this centre for any of the patients examined. A subgroup of TCS patients has stable, moderate AFP elevations unrelated to tumour aetiology.
This study provides evidence for how chronic stress and severe water insecurity may impact inflammation levels among pastoralists during drought. Since inflammation is central to cardiometabolic disease etiology, this is an additional reason to mitigate the negative health impacts of droughts and water insecurity exacerbated by climate change.
These results suggest that TfR2 may play a relevant role in canine seminoma development. Furthermore, the specific expression of TfR2 in seminomas highlights its potential as a therapeutic target, where its role in iron regulation and possible compensatory mechanisms warrant further investigation.
Furthermore, network module analysis indicated transcription factors for oestrogen-related receptors to have a potential role during development of TGCT. The overlap between mRNA network hub genes and TGCT susceptibility genes indicates a common role in TGCT development.
P3, N=420, Active, not recruiting, Alliance for Clinical Trials in Oncology | Trial completion date: Jun 2024 --> Jun 2031 | Trial primary completion date: Jun 2024 --> Jun 2031
4 months ago
Trial completion date • Trial primary completion date
|
LDH elevation
|
cisplatin • carboplatin • paclitaxel • ifosfamide • etoposide IV
We highlighted distinct metabolic profiles among testicular germ cell tumor subtypes, particularly the prominent glycolytic activity in embryonal carcinomas, with higher hypoxia and reliance on lactate transport. Metabolic reprogramming in embryonal carcinoma may underlie the high proliferation of this tumor subtype, which frequently discloses necrosis. These findings suggest that targeted agents such as MCT1 inhibitors may be particularly useful for treating testicular germ cell tumors containing high proportion of embryonal carcinoma.
5 months ago
Journal
|
LDHA (Lactate dehydrogenase A) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • KDM3A (Lysine Demethylase 3A) • SLC2A1 (Solute Carrier Family 2 Member 1)
The tumor markers turned negative after four cycles of BEP and four cycles of TIP chemotherapy. He then underwent resection of the remaining lung tumor, and no residual tumor or recurrence was detected one year later.
Furthermore, we identified physical interactions between H3.5 and histone chaperones Asf1a and Asf1b, HIRA, CAF p150 and DAXX, shedding light on the protein-level regulation of H3.5. These findings provide valuable insights into the molecular mechanisms governing testicular cell differentiation and the potential role of H3.5 in testicular pathologies.
Pathology confirmed a testicular mixed GCT composed of embryonal carcinoma, yolk sac tumor, and teratoma with vascular/lymphatic invasion. This case highlights the importance of rapid intervention in managing NSGCTs, potential role of tumors in testicular torsions, and the unusual presentation of a rapidly growing NSGCT.
Though promising, miRNAs are limited by their inability to detect teratoma. ctDNA and CTCs are two other emerging biomarkers, though further studies are needed to clarify their role in managing patients with GCT.
Our findings suggest the involvement of the CacyBP/SIP protein in the ERK1/2 and p38 signalling pathways, which may be involved in the processes of testicular seminoma carcinogenesis. The results of our research provide the basis for further research in this area.
5 months ago
Journal
|
MAPK1 (Mitogen-activated protein kinase 1) • MAPK3 (Mitogen-Activated Protein Kinase 3)
Detectable ctDNA status in the pre-RPLND status was associated with viable GCT on histology while having normal STM. Undetectable pre-RPLND ctDNA was associated with either no tumor or teratoma on histology. Detectable ctDNA status at the MRD window was associated with disease progression in all patients while only 25% had elevated STM.
Cells were treated with demethylating 5-azacytidine and pyrosequencing was performed...In summary, combination miR-100-5p/miR-125b-5p mimic replenishment or TRIM71kd caused growth inhibition in malignant GCT cells via cell cycle disruption. Further studies are now warranted, including mimic treatment alongside conventional platinum-based chemotherapy.
The involvement of TILs in seminoma biology warrants further investigation, especially their role in the tumor micro-environment and pathogenesis. Chemokine and Ki-67 expression in TILs could serve as potential markers for assessing seminoma prognosis.
In addition, compared with PD-L1-negative yolk sac tissue, dysgerminomas/seminomas with high PD-L1 expression are associated with more genetic alterations and a better prognosis. Our findings will contribute to the knowledge about the potential benefits of ovarian cancer immunotherapy in specific subsets of germ cell tumor patients and the risk factors for resistance mediated by tumor microenvironment cells.
Consistent with this finding, the NTERA‑2R mouse model demonstrated a significant upregulation in the expression levels of VIM and SLUG. In conclusion, the present findings suggested that SLUG may serve a crucial role in connecting EMT with the development of cisplatin resistance, and targeting SLUG may be a putative therapeutic strategy to mitigate cisplatin resistance.
7 months ago
Preclinical • Journal
|
FN1 (Fibronectin 1) • VIM (Vimentin) • TGFB1 (Transforming Growth Factor Beta 1) • SNAI2 (Snail Family Transcriptional Repressor 2)
P3, N=348, Active, not recruiting, St. Olavs Hospital | Trial completion date: Dec 2035 --> May 2032 | Trial primary completion date: Dec 2035 --> May 2027 | Recruiting --> Active, not recruiting
7 months ago
Enrollment closed • Trial completion date • Trial primary completion date
|
AFP (Alpha-fetoprotein)
|
AFP elevation
|
cisplatin • carboplatin • etoposide IV • bleomycin
Chemotherapy with a Bleomycin, Etoposide, and Cisplatin (BEP) regimen was carried out...Treatment with targeted therapy with Sunitinib was started because the risk was favourable according to the Heng criteria... According to the authors, the occurrence of synchronous primary tumours is linked to one's genetic predisposition. DNA sequencing of tumour tissue could provide more information on the corresponding aetiopathogenesis.
HSP90b is highly expressed in the majority of the types of testicular tumors, both in tumor and normal parenchyma specimens, while HSP90a staining is negative in resected specimens. Further well-designed studies are needed to elucidate the role of HSP90 as a diagnostic marker and therapeutic target in testicular tumors.
8 months ago
Retrospective data • Journal
|
HSP90AA1 (Heat Shock Protein 90 Alpha Family Class A Member 1Heat Shock Protein 90 Alpha Family Class A Member 1) • HSP90AB1 (Heat Shock Protein 90 Alpha Family Class B Member 1)
PITS can be clinically & pathologically inconspicuous, difficult to stage and liable to be misdiagnosed especially if presented with metastasis. Despite the inconspicuousness, PITS may represent an aggressive growth pattern of seminoma with the propensity for rete testis invasion.
Cisplatin-based chemotherapy is the mainstay in the treatment of germ cell tumors (GCTs)...Multivariate analysis showed that the prognostic value of GSTM1 was independent of the International Germ Cell Cancer Collaborative Group (IGCCCG) score. These data revealed the prognostic value of GSTM1 in GCTs, with a high GSTM1 expression associated with worse outcomes, suggesting that GSTM1 could be responsible, in part, for treatment resistance in GCTs.
Sertoli cell tumors (SCTs) showed only NCOA4 expression. These preliminary findings highlight potential molecular targets for developing new anti-neoplastic treatments in canine testicular tumors.
PD-L1 expression was observed in choriocarcinoma tumor cells, while yolk sac tumor and teratoma tumor cells exhibited lower or absent expression of PD-L1. Conversely, PD-L1 expression in TIICs was associated with seminoma and embryonal carcinoma, which was more commonly observed in TGCT patients with lower stages and better prognosis, thereby providing a theoretical foundation for the application of immunotherapy in relapsed/refractory TGCT patients.
In all four cases that presented 1,25-hydroxyvitamin D levels, the levels were elevated, suggesting seminomas are associated with 1,25-hydroxyvitamin D mediated hypercalcemia. Interestingly, one case was associated with increased 1,25-hydroxyvitamin D and increased PTHrP levels, suggesting there may be multiple mechanisms of hypercalcemia in seminomas.
In the immunohistochemical examination, the neoplastic cells showed positive immunolabelling for OCT4 and C-KIT. In this report, the physical examination combined with the ultrasonographic examination were fundamental to the therapeutic management of the case, and the final diagnosis was made after histopathological and immunohistochemical tests.
This study suggests that testicular tumors in boars may be more common than previously reported, especially when microscopic examination is performed. It also shows that testicular tumors in pigs are predominantly seminomas.