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Klinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor

Jeremy A Konheim1, Jonathan A Israel1, Scott E Delacroix1

  • 1Louisiana State University, Department of Urology, 1542 Tulane Avenue, New Orleans, LA, 70112, USA.

Urology Case Reports
|November 2, 2016
PubMed

Insights

Extragonadal germ cell tumors (EGCT) are rare, especially in the gastrointestinal tract. This case highlights the increased risk in Klinefelter syndrome (KS) and the potential complications like growing teratoma syndrome.

Area of Science:

  • Oncology
  • Genetics

Background:

  • Germ cell tumors (GCTs) are the most common malignancy in men aged 15-35.
  • Extragonadal germ cell tumors (EGCTs) are rare, with even fewer identified in the gastrointestinal tract.
  • Men with Klinefelter syndrome (KS) have an elevated risk of developing EGCTs.

Observation:

  • A 37-year-old male with KS presented with EGCTs in the duodenum and pelvis.
  • The patient received Bleomycin-Etoposide-Cisplatin (BEP) chemotherapy.
  • Post-treatment, he developed growing teratoma syndrome (GTS) and myelodysplasia.

Findings:

  • Despite surgical removal of a pelvic growing teratoma, the patient experienced severe bone marrow suppression.
  • Complications arising from myelodysplasia led to the patient's death.

Implications:

  • This case underscores the importance of vigilance for EGCTs in patients with KS, particularly those with gastrointestinal or pelvic presentations.
  • The development of GTS and myelodysplasia following BEP chemotherapy highlights complex treatment challenges.
  • Further research is needed to understand and mitigate the risks associated with EGCTs in KS patients.
Keywords:
Extragonadal germ cell tumorGrowing teratoma syndromeKlinefelter syndromeMyelodysplasia

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