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Case of the Week - Patient Summary 9394
Peer Reviewed and Certified -

Approved by: Albert V Porambo - 2006-02-23 08:57:12-05

Demographics: 23 y.o. man

History & Chief complaint:

Young man presented 5 months prior with arm swelling and shortness of breath.

Physical exam and Laboratory:

Alpha1-Fetoprotein (normal 0-15 ng/ml)
Oct, 2005: 6826
Nov, 2005: 2982
Jan, 2006: 18.9
Feb, 2006: 9.8

Beta-HCG (normal < 0.1 mIu/ml)
Oct, 2005: 15.5
Nov, 2005: 1.6
Jan, 2005: <0.1

LDH (normal 313-618 U/L)
Nov, 2005: 1012
Jan, 2005: 1502
Feb, 2005: 1010

Summary of Findings:

Large anterior mediastinal mass.
Left PICC in place.

Differential Diagnosis:

Anterior Mediastinal Mass:
Fat: obesity, steroids, lipoma
Tumor:
Thyroid: goiter, adenoma, carcinoma
Lymphoma: (typically Hodgkin's)
Thymic based: thymoma, thymolipoma, thymic
carcinoma, cyst, rebound hyperplasia.
Germ cell neoplasm: teratoma, seminoma,
choriocarcinoma, mixed germ cell.
Metastatic disease
Sarcoma
Lymphangioma: cystic hygroma
Vascular: aneurysm, tortuous vessels
Fluid: hematoma, seroma, pericardial cyst
Various: mediastinitis, Morgagni hernia

Diagnosis:

Malignant Germ Cell Tumor (mixed)

Confirmed by: Pathology

Treatment and Followup:

Patient undergoing chemotherapy prior to tumor resection.

Patient Specific Discussion: (Also Read the Disease Discussion)

See factoid

Disease Discussion - Malignant Germ Cell Tumor (mixed)

Nonseminomatous malignant germ cell tumors can derive from embryonic, extraembryonic (Yolk sac, Choriocarcinoma), or a combination of tissues (mixed germ cell). These tumors typically present as large heterogeneous soft-tissue mass that invades surrounding structures. They oftentimes have central hemorrhage or necrosis. The margins are well circumscribed but irregular with contrast enhancement of the tumor periphery. Invasion of mediastinal structures is extremely common (see SVC syndrome below). Often they are accompanied by pleural or pericardial effusions.

The peak occurrence is age 20-40 predominantly in males (M:F = 9:1). When these tumors occur in children they are equally distributed among males/females. They are associated with Klinefelter syndrome (47 XXY chromosomal abnormality) in 20% of patients. In Klinefelter syndrome, they are typically found in young boys with precocious puberty.

Presenting symptoms include chest pain, dyspnea, cough, weight loss, and fever. In 90%+ of patients there are symptoms of superior vena cava syndrome. Laboratory analysis typically demonstrates elevated serum levels of LDH (60%), hCG (30%), and alpha-fetoprotein (80%).

Treatment is based on cisplatin-based chemotherapy and tumor resection when possible with a long-term survival approaching 50%.

Case and/or Image Source: Mark D Travis
Submitted by: Mark D Travis -

Affiliation: National Naval Medical Center Bethesda

Approved By: Albert V Porambo -

Affiliation: Civilian Medical Center

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