Epithelioid Trophoblastic Tumor Presenting as a Large Cystic Mass: Diagnostic Clue From Foreign DNA Sequences Detected by Comprehensive Genomic Profiling.
Yui Kojima, Akiko Tonooka, Tomohiro Chiba et al.
✦ AI-curated · Sources linked
Case in brief
A postmenopausal woman in her 50s presented 20 years after her last pregnancy with a 19-cm multilocular cystic mass protruding from the cervix, initially suspected to be infected. Histology showed cytokeratin- and p40-positive epithelioid-to-spindle cells, provisionally interpreted as sarcomatoid carcinoma. Because the primary site was uncertain, comprehensive genomic profiling was performed; detection of foreign-origin DNA prompted consideration of gestational trophoblastic disease. HSD3B1 immunopositivity supported trophoblastic differentiation and confirmed epithelioid trophoblastic tumor. Complete surgical resection was achieved, with no recurrence during 18 months of follow-up.
What made this case unusual
The tumor presented as a large multilocular cystic mass rather than the more typical solid nodular lesion. Foreign-origin DNA sequences detected on genomic profiling provided a diagnostic clue to its gestational, fetal origin.
Diagnostic / clinical pearl
When genomic profiling of a uterine tumor detects foreign-origin DNA, consider gestational trophoblastic disease; trophoblastic markers such as HSD3B1 can help resolve the diagnosis.