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Seminoma Diagnosed by Multicancer Detection Testing: A Case Report.

Elizabeth A Gilman¹, Aditya K Ghosh¹, Sara Seegmiller¹

¹Division of General Internal Medicine, Department of Medicine, Mayo Clinic, Rochester, MN, USA.

SAGE Open Medical Case Reports

|January 28, 2025

Summary

A multicancer detection test indicated neuroendocrine and head/neck cancers, but further investigation revealed an early-stage seminoma. This case underscores the need for careful interpretation of these tests and structured follow-up protocols.

Keywords:

Multicancer detection testing cancer screening cancer signal of origin seminoma

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Area of Science:

Oncology
Diagnostic Medicine
Genitourinary Cancers

Background:

Multicancer detection tests (MCDTs) show promise but present diagnostic challenges.
False positive results require extensive workups, impacting patient anxiety and healthcare resources.
Interpreting complex signals from MCDTs necessitates a nuanced approach.

Observation:

A 67-year-old male with positive MCD signals for neuroendocrine and head/neck cancers underwent extensive negative workup.
Referral to a specialized center led to advanced imaging and endoscopic evaluation.

Findings:

The diagnostic workup ultimately identified an early-stage testicular seminoma.
The patient underwent successful orchiectomy for the confirmed diagnosis.

Implications:

This case highlights the diagnostic challenges associated with interpreting positive MCD test results.
There is a critical need for enhanced understanding and protocolized follow-up strategies for positive MCD tests to ensure accurate diagnosis and management.