Metastatic Large Cell Calcifying Sertoli Cell Tumor: A Case Report, Diagnostic Pitfalls, and Literature Review.
Elif Demirci, Saeed Asiry, Ashley Rose et al.
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Case in brief
A 37-year-old man developed testicular pain and swelling after trauma and was initially treated for epididymitis and hydrocele. Progressive systemic symptoms and lymphadenopathy prompted imaging, which showed diffuse lymphadenopathy and enhancement of the right testicular tunica. A supraclavicular node biopsy showed a malignant S100- and SOX10-positive neoplasm; a PRKAR1A mutation further complicated classification, and imaging did not identify a primary tumor. With progressive disease and persistent testicular pain, orchiectomy revealed a malignant large cell calcifying Sertoli cell tumor with atypia, necrosis, invasive growth, and metastases.
What made this case unusual
The metastatic tumor’s S100/SOX10 expression and PRKAR1A mutation suggested a neural crest-derived neoplasm, obscuring its testicular origin; the primary was identified only after orchiectomy.
Diagnostic / clinical pearl
In a metastatic S100/SOX10-positive tumor with a PRKAR1A mutation, include large cell calcifying Sertoli cell tumor in the differential, particularly when a testicular lesion is present or suspected.