Primary Mediastinal Germ Cell Tumor With Bone Marrow Infiltration: A Case Report and Literature Review

TL;DR

A rare case of a mediastinal germ cell tumor with bone marrow spread is reported, highlighting the importance of early detection to improve outcomes.

Contribution

This case report adds to the limited literature on bone marrow infiltration by extragonadal germ cell tumors.

Findings

Bone marrow infiltration was confirmed in a patient with primary mediastinal germ cell tumor.

Standard chemotherapy reduced tumor markers but was complicated by severe infections.

Early detection of bone marrow involvement may improve survival in such cases.

Abstract

Bone marrow infiltration is a rare presentation in patients with extragonadal germinal cell tumors (EGGCTs). We report a case of primary mediastinal germ cell tumor presenting with bone marrow metastases.

A 28‐year‐old male patient was admitted to Instituto Nacional de Enfermedades Neoplásicas with superior vena cava syndrome and a mediastinal mass accompanied by positive blood tumor markers for germinal cell tumor (GCT). In addition, he exhibited anemia and thrombocytopenia; therefore, bone marrow aspiration and biopsy were done and showed metastatic GCT cells. The patient started standard chemotherapy (bleomycin‐etoposide‐cisplatin) for 2 cycles; there was a reduction of serum tumor markers; however, the patient subsequently developed febrile neutropenia and severe pneumonia, resulting in death.

This case demonstrates an uncommon presentation of EGGCT with bone marrow metastases. Early detection of this presentation will help to reduce the tumor burden and the mortality associated with it.

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