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Frequency, morphologic features, and ancillary testing in primary germ cell tumors of the mediastinum[1-3]

Frequency, morphologic features, and ancillary testing in primary germ cell tumors of the mediastinum[1-3]
Primary mediastinal germ cell tumor Frequency (%) Morphologic features Ancillary testing*
Teratoma 43 to 74
  • Mature teratoma (63%)
  • Teratoma with other malignant component (33%)
    • Sarcoma
    • Other GCT (nonseminomatous)
    • Carcinoma
  • Immature teratoma (4%)
  
Seminoma 10 to 37
  • Lymphocytic infiltration (100%)
  • Fibrous septa/stroma (91%)
  • Prominent tumor cell nucleoli (91%)
  • Clear tumor cell cytoplasm (87%)
  • Non-necrotizing granulomas (46 to 74%)
  • Cellular pleomorphism (43%)
  • Necrosis (35%)
  • Thymic remnant (27%)
  • Prominent cystic changes (8%)
  • CD117
  • Keratin (dot-like staining)
  • OCT3/4
  • SALL4
  • PLAP
Nonseminomatous tumors
Yolk sac tumor 2 to 12
  • Schiller-Duval bodies
  • Patterns: Microcystic, macrocystic, glandular-alveolar, endodermal sinus, myxomatous, hepatoid, enteric, polyvesicular, vitelline, solid, spindle cell; usually multiple
  • Glypican 3
  • AFP
  • Keratin
  • SALL4
  • PLAP
Embryonal carcinoma 2 to 8
  • Large, polygonal or columnar tumor cells
  • Large single/multiple eosinophilic nucleoli
  • High mitotic activity, tumor necrosis
  • Keratin
  • CD30
  • OCT3/4
  • SALL4
Choriocarcinoma 2
  • Syncytiotrophoblasts
  • Cytotrophoblasts
  • Intermediate trophoblasts
  • beta-hCG
Mixed GCT 34
  • Features of multiple GCTs
  • Teratoma with any GCT component
  

GCT: germ cell tumor; CD: cluster of differentiation; OCT: organic cation transporter; SALL4: spalt-like transcription factor 4; PLAP: placental-like alkaline phosphatase; AFP: alpha fetoprotein; hCG: human chorionic gonadotropin.

* Isochrome 12p or increase in copy numbers of 12p might be helpful as it is identified in the majority of primary mediastinal germ cell tumors.

¶ Frequency in mediastinal seminomas.
References:
  1. Takeda S, Miyoshi S, Ohta M, et al. Primary germ cell tumors in the mediastinum: A 50-year experience at a single Japanese institution. Cancer 2003; 97:367.
  2. Moran CA, Suster S, Przygodzki RM, Koss MN. Primary germ cell tumors of the mediastinum: II. Mediastinal seminomas - a clinicopathologic and immunohistochemical study of 120 cases. Cancer 1997; 80:691.
  3. Fichtner A, Richter A, Filmar S, et al. Primary mediastinal germ cell tumours: An immunohistochemical and molecular diagnostic approach. Histopathology 2022; 80:381.
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