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Primary mediastinal seminoma with leiomyosarcoma: a rare case report
Yali Qi1, Chi Dong2, Wenjun Cui3
1Department of Oncology, Lanzhou University Second Hospital, Lanzhou University, Lanzhou City, China. feixuesong98@126.com.
Cellular and Molecular Biology (Noisy-Le-Grand, France)
|July 12, 2022
Summary
This study reports an extremely rare case of primary mediastinal seminoma mixed with leiomyosarcoma in an 18-year-old patient. The patient successfully benefited from chemotherapy and targeted therapy, suggesting potential treatment strategies for this rare germ cell tumor.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Germ cell tumors are the most common malignant tumors of the gonads.
- Extra-gonadal Germ cell tumours (EGCTs) can occur outside the gonads.
- Primary mediastinal germ cell tumors (PMGCTs) are rare anterior mediastinal neoplasms.
Observation:
- Primary mediastinal seminoma mixed with sarcoma is an extremely rare clinicopathologic entity.
- A case of an 18-year-old patient with dyspnea, orthopnea, and chest pain presented with a large anterior mediastinal mass.
- The mass was diagnosed as seminoma mixed with leiomyosarcoma after partial excision.
Findings:
- Chemoradiotherapy and palliative excision are common treatments for pure mediastinal seminomas.
- Treatment options for mixed germ cell tumors (MGCTs) composed of seminoma and sarcoma were previously unknown.
- The reported patient with primary mediastinal seminoma mixed with leiomyosarcoma benefited from chemotherapy alone or combined with targeted therapy post-operation.
Implications:
- This case highlights the potential efficacy of chemotherapy and targeted therapy for primary mediastinal seminoma mixed with leiomyosarcoma.
- BRAF p.G466V, TP53 mutations, MTOR p.T1977I, and FLCN exon 2-5 deletion may represent potential molecular mechanisms and oncogenic drivers.
- Further research into the molecular mechanisms and treatment strategies for rare EGCTs is warranted.
