Case report: Ovarian steroid cell tumor with CA72-4 elevated.

Area of Science:

• Gynecologic Oncology
• Endocrinology
• Oncologic Pathology

Background:

• Ovarian steroid cell tumor, not otherwise specified (SCT-NOS) is a rare sex cord-stromal tumor.
• Clinical manifestations include hirsutism and virilization.
• Few specific tumor markers are documented for SCT-NOS.

Observation:

• A patient with a history of yolk sac tumor presented with hirsutism and oligomenorrhea.
• Significantly elevated serum CA72-4 levels were detected upon diagnosis of SCT-NOS.
• Histopathological examination confirmed SCT-NOS.

Findings:

• Serum CA72-4 levels decreased to normal ranges post-tumor resection.
• Whole-exome sequencing identified ten mutations in genes including MKI67, TICAM1, and ERBB4.
• This suggests a potential role for CA72-4 as a biomarker for SCT-NOS.

Implications:

• CA72-4 may serve as a useful tumor marker for diagnosing and monitoring ovarian SCT-NOS.
• Further research is warranted to validate CA72-4's role in SCT-NOS management.
• Genetic analysis revealed mutations in key genes, contributing to understanding SCT-NOS pathogenesis.