mediastinal germ cell tumors

Types

 primary mediastinal seminomas
 mediastinal nonseminomatous germ cell tumors mediastinal (NSGCTs)

• mediastinal embryonal carcinomas (ECs)
• mediastinal yolk sac tumors (YSTs)
• mediastinal choriocarcinoma
• mediastinal mixed germ cell tumor
• mediastinal teratomas
  • mediastinal teratoma mature
  • mediastinal teratoma immature

Associations

 Klinefelter syndrome (12075411)

Transformation

 acute lymphoblastic leukemia with i(12p) in leukemia cells (8069867)
 acute megakaryoblastic leukemia (2693977)
 myelomonocytic leukemia (12075411)
 malignant histiocytosis (2443827)

• malignant histiocytosis with trisomy 9 (16809892)

 myeloproliferative syndrome (6836221)
 systemic mastocytosis (8380274)
 unidfferentiated sarcoma (1688399)

• with deletion of the long arm of chromosome 9 in both tumors; no i(12)p) (1884350)
• with i(12p) in both tumors (1676906)

 embryonal rhabdomyosarcoma in a mediastinal germ cell tumor(11886012)

Cytogenetics

 i(12p) (1676906, 8069867)

References

 Diagnostic Utility of Novel Stem Cell Markers SALL4, OCT4, NANOG, SOX2, UTF1, and TCL1 in Primary Mediastinal Germ Cell Tumors. Liu A, Cheng L, Du J, Peng Y, Allan RW, Wei L, Li J, Cao D. Am J Surg Pathol. 2010 May;34(5):697-706. PMID: 20410807

 Genetic analysis of mediastinal nonseminomatous germ cell tumors in children and adolescents. Schneider DT, Schuster AE, Fritsch MK, Calaminus G, Göbel U, Harms D, Lauer S, Olson T, Perlman EJ. Genes Chromosomes Cancer. 2002 May;34(1):115-25. PMID: 11921289

 True malignant histiocytosis with trisomy 9 following primary mediastinal germ cell tumor. Suenaga M, Matsushita K, Kawamata N, Kukita T, Hamakawa Y, Gejima K, Onodera R, Sato T, Yamaguchi A, Inoue H, Arimura K, Arima N, Yoshida H, Tei C. Acta Haematol. 2006;116(1):62-6. PMID: 16809892

 Mediastinal immature teratoma with yolk sac tumor and myelomonocytic leukemia associated with Klinefelter’s syndrome. Govender D, Pillay SV. Int J Surg Pathol. 2002 Apr;10(2):157-62. PMID: 12075411