Gestational trophoblastic neoplasms are tumors that occur during pregnancy, while
non-gestational trophoblastic tumors have a similar histology but are present outside
of gestation. Literature reports several cases of non-gestational trophoblastic tumors
of primary pulmonary origin, which pose diagnostic challenges and are associated with
a poor prognosis. This report details a case of somatic high-grade carcinoma with
trophoblastic differentiation primarily manifesting in the left lung with recurrent
pneumothoraces. The tumor was initially diagnosed as a poorly differentiated pleomorphic
carcinoma and was treated with paclitaxel and pembrolizumab, followed by the EMA-CO/EP
regimen after the detection of liver, lung, and brain metastases. Despite initial
treatment responses, the disease progressed with widespread metastases and severe
complications, including myelotoxicity, empyema, and subarachnoid bleeding. The disease
progressed rapidly, resulting in death within two years of diagnosis, highlighting
the aggressive nature of this high-grade carcinoma with trophoblastic differentiation.
Non-gestational trophoblastic tumors may represent a distinct disease group with unique
clinical characteristics, and genetic analysis could help identify more cases.
