Background: Approximately 8% of male patients presenting with primary mediastinal
germ cell tumors (GCTs) have Klinefelter syndrome (KS), while patients diagnosed
with retroperitoneal GCTs also exhibit a range of chromosomal abnormalities. The
exact mechanism underlying the development of GCTs in Klinefelter syndrome is unknown,
but KS frequently goes underdiagnosed as a result of its varied symptoms and
a low general awareness of this condition. Thus, the Children’s Oncology Group recommends
screening of Klinefelter syndrome in pediatric and adolescent male subjects
who present with GCTs.
Methods: We retrospectively reviewed the medical records of extragonadal germ cell
tumor patients treated at Severance hospital, department of pediatrics or division of
pediatric hematology-oncology over the last ten years.
Results: A total of 95 patients with extragonadal germ cell tumors were included in
this study. Karyotyping was done in eight patients out of 95 patients, three patients
with KS and one patient with Down syndrome. Twelve of extragonadal GCT patients
presented at mediastinum, with most common histology of mature teratoma, and
three patients presented with chromosomal abnormalities, two with KS and one with
Down syndrome. A total of nine patients were diagnosed with retroperitoneal GCTs
and only one had KS.
Conclusion: We described the characteristics of 95 cases of extragonadal GCTs.
Although the mechanism of extragonadal GCTs in KS is not clear, karyotyping in pediatric
and adolescent extragonadal GCT patients could be helpful in figuring out
chromosomal abnormalities including KS and their roles in GCT pathophysiology,
which can contribute to improve one’s health.