Klinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor

Abstract

Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefelter syndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment with Bleomycin-Etoposide-Cisplatin (BEP), he developed growing teratoma syndrome (GTS) and myelodysplasia. Despite surgical excision of the pelvic growing teratoma, he unfortunately died secondary to complications of severe bone marrow suppression.

Keywords: Extragonadal germ cell tumor; Growing teratoma syndrome; Klinefelter syndrome; Myelodysplasia.

Figure 1

CT abdomen/pelvis on initial presentation, axial (A,B) and coronal (C). These images demonstrate the duodenal mass (A, C), and the pelvic mass (B), which were identified at presentation, the red arrows point to the “duodenal mass,” and “pelvic mass”.

Figure 2

Bone scan demonstrating T11 lesion, the red arrow points to the “T11 lesion”.

Figure 3

CT (A) and MRI (B) after BEP × 4 cycles, demonstrating growing teratoma the red arrows point to the “growing teratoma”.