Concurrent isolated retroperitoneal HGSC and STIC defined by somatic mutation analysis: a case report

Area of Science:

• Gynecologic Oncology
• Pathology
• Genetics

Background:

• Retroperitoneal high-grade serous carcinoma (HGSC) is an exceptionally rare malignancy.
• The precise origin of retroperitoneal HGSC remains largely undetermined.
• Serous tubal intraepithelial carcinoma (STIC) is recognized as a precursor lesion for ovarian HGSC.

Observation:

• A case study involved a 58-year-old female diagnosed with a large retroperitoneal tumor.
• Surgical resection revealed retroperitoneal HGSC and concurrent STIC in the right fallopian tube.
• The tumor measured 93x65x62 mm and had both solid and cystic components.

Findings:

• Histopathological examination confirmed retroperitoneal HGSC and STIC.
• Shared deleterious somatic mutations in TP53 and BRCA2 genes were identified between the retroperitoneal HGSC and STIC.
• These genetic findings provide a molecular link between the two pathologies.

Implications:

• The genetic congruence suggests a potential common origin for retroperitoneal HGSC and STIC.
• This case provides evidence supporting STIC as a possible origin for retroperitoneal HGSC.
• Further research into the etiology of retroperitoneal HGSC is warranted based on these findings.