Germ cell tumor

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Germ Cell Tumors Microchapters

Patient Information



Embryonal carcinoma
Yolk sac tumor


Risk Factors

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Huda A. Karman, M.D.

Synonyms and keywords: Polyembryoma;


A germ-cell tumor (GCT) is a neoplasm derived from germ cells and it can be cancerous or benign. Based on their location, germ cell tumors can be classified into intragonadal (ovary and testis) or extragonadal (mediastinum, brain, retroperitoneum, coccyx). Histologically, Germ cell tumors can be classified as germinomatous/undifferentiated germ cell tumors which include, dysgerminoma and seminoma. and nongermminomatous/differentiated which include embryonic and extra-embryonic germ cell tumors. Embryonic germ cell tumors include teratoma, and extraembryonic germ cell tumors include Choriocarcinoma and Yolk sac tumor. The name of a germ cell tumor came from the word (germinate), which means to begin to grow. During fetus development, germ cells migrate to become the eggs in the ovary or the sperms in the testicles. Germ cell tumors develop due to the abnormal growth of the germ cells in the ovary, testis, brain, mediastinum, coccyx, or pelvis. World health organization (WHO) classified germ cell tumors into 7 types based on histology. The cause of germ cell tumors development is not fully understood but some causes include, genetic mutations, cryptorchidism, undescended testes, trauma, mumps, maternal estrogen exposure. Common risk factors include Caucasian race,Family history or personal history of germ cell tumor, Klinefelter syndrome. Less common risk factors include,Infections such as HIV, orchitis, or history of trauma. Symptoms and signs of germ cell tumors depend on the type and location of the tumor. Symptoms of dysgerminoma can include, abdominal distention, acute/ subacute abdominal pain, menstrual irregularities, and precocious puberty. Symptoms of seminoma include painless testicular mass with discomfort, back pain, abdominal discomfort, or abdominal mass. Common complications of germ cell tumors include recurrence, lymph node metastasis, distant metastasis, and secondary malignancies. Lab findings include abnormal serum tumor marker levels such as LDH, HCG (seminoma), lactate dehydrogenase (LDH), human chorionic gonadotropin (HCG), CA-125, and alpha-fetoprotein (AFP) (ovarian germ cell tumors), alpha fetoprotein (AFP) greater than 100 ng/ml (Endodermal sinus tumor). CT, MRI, and ultrasound are used in combination with biopsy to distinguish between the types and subtypes of germ cell tumors and for diagnosis confirmation. Surgery along with chemotherapy are the mainstay of treatment depending on the staging of the tumor. Depending on the type, location, and the extent of the tumor at the time of diagnosis, the prognosis may vary.


Germ cell tumors can be classified as follows:

Histologic-based classification[edit]

Germ cell tumors
Embryonal carcinoma
Embryonic tissue
Extraembryonic tissue
Yolk sac tumor

Location-based classification, regardless to the histologic findings:[edit]

Germ cell tumors
Located in the gonads
Located in the midline of the body including:
  • CNS
  • Mediastinum
  • Retroperitoneum
  • Coccyx

    Types Subtypes Signs and Symptoms Histopathology Lab finding Prognosis


    Seminoma (Testis)

    Gross: pale gray to yellow nodules that are uniform or slightly lobulated and often bulge from the cut surface
    • Complete blood count and blood chemistry tests.
    • Abnormal serum tumor marker levels (LDH, HCG).
    • CT: Metastases to the para-aortic, inguinal, or iliac lymph nodes. Visceral metastasis may also be seen.
    • Pelvic MRI: may be diagnostic. multinodular tumors of uniform signal intensity
    • Hypo- to isointense on T2-weighted images and inhomogenous enhancement on contrast enhanced T1-weighted images.
    • Other diagnostic studies for seminoma include biopsy, FDG-PET scan, and bone scan.



    • Chemotherapy: except those with stage 1a, stage 1a, 1b dysgerminoma
    • Radiotherapy:

    ** Dysgerminoma is radiosensitive.

    ** Radiotherapy is not anymore the first option of treatment for dysgerminoma considering its association with ovarian failuredevelopment.

    • Surgery: for diagnostic grading and therapy depending on if the patient prefers to preserve the ovary or not.





    • AFP
    • MSAFP
    • CT scans are often used to diagnose teratoma.

    • For malignant teratomas, usually, surgery is followed by chemotherapy.
    • Teratomas that are in surgically inaccessible locations, or are very complex, or are likely to be malignant (due to late discovery and/or treatment) sometimes are treated first with chemotherapy.


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    Early Symptoms:

    Rare Symptoms:

    Late Symptoms

    Gross pathological:

    Microscopic histopathological:

    Human chorionic gonadotropin (HCG or b-HCG) is the most common tumor marker test used to diagnose GTD

    HCG is markedly elevated (usu. >10,000 IU

    Poor prognosis of gestational trophoblastic neoplasia (GTN) can be determined by the following factors:

    Yolk sac tumor

    (Endodermal sinus tumor)

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      • On gross pathology:
      • Encaptulated, firm, smooth, round, globular, solid gray-white with a gelatinous, myxoid, or mucoid appearance, necrosis, cystic changes, and hemorrhage are characteristic findings of endodermal sinus tumor.
      • On microscopic histopathological analysis:
      • Schiller-Duval bodies (invaginated papillary structures with central vessel) is a characteristic finding of endodermal sinus tumor. The tumors are composed of irregular space lined by flattened to cuboidal cells and recticular stroma
    • An elevated concentration of serum alpha feto-protein is diagnostic of endodermal sinus tumor. <ref name="pmid6155988">{{#invoke:Citation/CS1|citation


    • AFP is very important for diagnosis, disease monitoring and early metastasis
    • Endodermal sinus tumor may also be diagnosed using biopsy and measurement of GATA-4, a transcription factor<ref name="pmid10595911">{{#invoke:Citation/CS1|citation


    • Endodermal sinus tumor has a poor prognosis in adult.<ref name="pmid12432104">{{#invoke:Citation/CS1|citation

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    • Endodermal sinus tumor has a favorable prognosis in children.<ref name="pmid12875960">{{#invoke:Citation/CS1|citation



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    • If left untreated, endodermal sinus tumor quickly metastasizes in other parts of the body such as the brain.<ref name="urlDefinition of endodermal sinus tumor - NCI Dictionary of Cancer Terms - National Cancer Institute">{{#invoke:citation/CS1|citation


    • Endodermal sinus tumor can be found in the ovaries or testicles including the chest, abdomen, and the brain.<ref name="urlDefinition of endodermal sinus tumor - NCI Dictionary of Cancer Terms - National Cancer Institute">{{#invoke:citation/CS1|citation



    • The cause of germ cell tumor is not understood fully but there are many risk factors that believed to play a role in the development of germ cell tumors.
    The etiology of yolk sac tumors (YSTs) is essentially unknown. It is speculated that hypermethylation of the RUNX3 gene promoter and overexpression of GATA-4, a transcription factor that regulates differentiation and function of yolk sac endoderm, may play important roles in the pathogenesis of yolk sac tumors (YSTs)
    Germ cell tumor causes
    General Causes
    Seminoma Common causes
    • Cryptorchidism
    • Undescended testis
    • Abdominal testis
    • Trauma
    • Mumps
    • Maternal estrogen exposure
    • Genetic Causes
    • Seminoma is caused by a mutation in the KIT gene.
    • 12p11.2-p12.1 chromosomal amplifications and deletions observed in majority of cases.

    Embryonal cell carcinoma
    Yolk sac tumor

    Risk Factors[edit]

    Germ cell tumor Risk factors
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    Mature teratoma: Common risk factors in the malignant transformation of mature teratoma include:

    • Old age (> 50 years old)
    • Large tumor size (> 10 cm)
    • Presence of a solid portion
    Seminoma<ref name="riskfactorsfortesticulargermcelltumotrssnkjb2">Risk factors for testicular germ cell tumors. Dr Matt A. Morgan and Dr Andrew Dixon et al. Radiopaedia 2016. Accessed on February 25, 2016</ref><ref name="seminomariskfactorsmlmn12">Causes of seminoma. US National Library of Medicine 2016. Accessed on February 29, 2016</ref><ref name="pmid179168702">{{#invoke:Citation/CS1|citation CitationClass=journal

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    Common Risk Factors

    Less Common Risk Factors

    Embryonal carcinoma
    • Maternal
    • The risk of choriocarcinoma increases progressively in women older than 25 years
    • The risk increases more rapidly in women older than 39 years
    • The risk is higher for women younger than 20 compared with women aged 20 – 24 years
    • History of Gestational Trophoblastic Disease
    • Reproductive Factors
    Yolk sac tumor

    Related chapters[edit]

    External Links[edit]


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