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Seminoma Diagnosed by Multicancer Detection Testing: A Case Report.

SAGE Open Med Case Rep

January 2025

Division of General Internal Medicine, Department of Medicine, Mayo Clinic, Rochester, MN, USA.

A 67-year-old male with positive signals for neuroendocrine and head/neck cancer on a commercially available multicancer detection test underwent an extensive negative diagnostic workup at a local hospital. Referred to our medical center for advanced imaging and endoscopic procedures ultimately led to the diagnosis of an early-stage seminoma with eventual orchiectomy. This case highlights challenges in evaluating positive multicancer detection results, emphasizing the need for a broader understanding of how to interpret these testing results to fully evaluate complex cases, as well as the need for protocolized follow-up approaches to a positive multicancer detection test.

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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 35-year-old man visited a local doctor for continuing analysis of his infertility. Semen analysis revealed azoospermia while an ultrasonography detected a right testicular tumor with a diameter of 10 mm. A blood test was negative for tumor markers.

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Background: Testicular seminoma is the most common malignant tumor of the testis. It occurs at a rate of 5 per 100 000 men, primarily between the ages of 15 to 34. While seminomas typically occur in the testis, other primary sites include the mediastinum, the retroperitoneum, or other extra-gonadal sites.

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