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Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumour in an adult patient: a case report and literature review.

World J Surg Oncol

January 2025

Department of Colorectal Surgery, Dingli Clinical College, Wenzhou Medical University (Wenzhou Central Hospital), 252 Baili East Road, Wenzhou, Zhejiang Province, 32500, China.

Background: An association between testicular cancer and Down syndrome has been reported by several studies. Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumours is rare, and yolk sac tumours are often considered secondary components of mixed germ cell tumours. Herein, we present a rare case of retroperitoneal mixed germ cell tumour with cryptorchidism accompanied by yolk sac tumour and seminoma in a patient with Down syndrome, along with its imaging features.

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A Rare Case of Anti-Caspr2 Autoimmune Encephalitis Associated with a Testicular Mixed Germ Cell Tumor.

J Community Hosp Intern Med Perspect

November 2024

Department of Internal Medicine, HCA Healthcare, MountainView Hospital, 2880 N Tenaya Way, 89128, Las Vegas, NV, USA.

Paraneoplastic limbic encephalitis (PLE) is a poorly understood condition, thought to be caused by the cross-reacting of tumor antibodies with neurons in the brain, resulting in neuropsychiatric sequelae, such as personality and behavioral changes, psychosis, memory loss, and seizures. Anti-contactin-associated protein-like 2 (CASPR2) antibodies can cause PLE in patients with particular tumors, which in most cases can be identified as thymoma, lung cancer, or endometrial cancer. Some case reports show rare instances with other tumors, such as throat or sigmoid carcinoma.

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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.

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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.

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