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{{Germinoma}}
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==Overview==
==Overview==


==Laboratory Findings==
==Laboratory Findings==
[[Metastasis]] has been noted in approximately 22% of cases at time of diagnosis. Males are approximately twice as commonly affected in developing germinomas. Germinomas are most commonly diagnosed between the age of 10 and 21.


* Serum and spinal fluid [[tumor marker]]s of [[alpha-fetoprotein|AFP]] and [[beta-HCG]] are tested. Pure germinomas are not associated with these markers. Nongerminomatous germ cell tumors may be associated with increased markers such as AFP with [[yolk sac tumor]]s as well as embryonic cell carcinomas and [[teratoma|immature teratomas]] and beta-HCG which occur in [[choriocarcinoma]]s. It should be noted that in 1-15% of germinonas a low level of beta-HCG may be produced. Although controversial, there are some thoughts that HCG-secreting germinomas are more aggressive than nonsecreting ones.
Tumor markers may be measured in serum and cerebrospinal fluid (CSF).[49, 50] Tumor marker levels are usually higher in CSF than in serum.[49] Detection of elevated tumor markers may be sufficient for diagnosis in patients in whom endoscopic biopsy is not considered possible.
 
Although elevated alpha-fetoprotein levels may be seen in the germ cell tumors; however, AFP levels may be normally elevated both in serum and CSF of neonates and infants. Alpha-fetoprotein (AFP) levels may be elevated in the following tumors:
*Pure endodermal sinus tumor (yolk sac)
*Embryonal carcinoma
*Malignant teratoma.
Interpretation of the AFP level must take into account the normal variation seen in this age group. The median AFP levels in CSF, in normal infants, are as follows:
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align=center
|valign=top|
|+
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Age }}
! style="background: #4479BA; width: 400px;" | {{fontcolor|#FFF|AFP levels}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
:≤31 days
| style="padding: 5px 5px; background: #F5F5F5;" |
*61 kIU/L
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
:32-110 days
| style="padding: 5px 5px; background: #F5F5F5;" |
*1.2 kIU/L
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
:8-12 months
| style="padding: 5px 5px; background: #F5F5F5;" |
*Adult levels
|-
|}
 
Other relevant tumor marker findings are as follows:
 
Levels of beta human chorionic gonadotropin (β-hCG) above 50-100 IU/L indicate the presence of choriocarcinoma while lower levels may indicate pure germinoma that contain syncytotrophoblastic giant cells. [17, 51, 32, 6]
Carcinoembryonic antigen (CEA) levels may be increased in nongerminomatous germ cell tumors (NGGCTs) or their components.
In addition to tumor marker measurement, CSF cytology may be performed to detect malignant cells.[52]
 
Pure germinomas and mature teratomas typically present with normal levels of AFP and beta-hCG in both serum and CSF. Some histologically confirmed germinomas have elevated beta-hCG levels that are presumed to be due to beta-hCG secreting syncytiotrophoblasts. In such cases, elevations of serum beta-hCG are generally limited (<50 IU/L), although some tumors have levels >100 IU/L [14]. (See 'Beta-HCG secreting germinomas' below.)
 
Any tumor with an elevated AFP (>10 microg/L or higher than the institutional normal range) can be assumed to contain elements of endodermal sinus tumor and/or immature teratoma. If a histologic diagnosis is not possible because surgery is contraindicated, such a patient should be treated as having a NGGCT. Pure endodermal sinus tumor or pure choriocarcinomas are often associated with dramatic elevations in AFP (>500 microg/L) or beta-hCG (>1000 IU/L), whereas immature teratomas have less dramatic elevations of AFP and/or beta-hCG. A serum AFP >1000 microg/L has recently been identified as a poor prognostic indicator [24,25], but since a significant proportion of these tumors have mixed components, it is not yet feasible to use tumor markers for risk stratification without a tissue diagnosis.
 
Measurement of AFP and beta-hCG in the CSF is more sensitive than serum levels in detecting abnormalities. However, discordant serum and CSF tumor marker results have been observed, and both serum and CSF tumor markers should be obtained in the absence of clinical contraindications. If a lumbar puncture can be safely performed, lumbar CSF is considered more accurate for tumor markers and cytology than ventricular CSF. However, if a lumbar puncture is contraindicated, then tumor markers from ventricular CSF can be used for diagnostic purpose.
 
 
 
Studies to detect the hormonal dysfunction that may occur in patients with central nervous system (CNS) germinomas are as follows:
Diabetes insipidus – Serum sodium, serum osmolality, and urine osmolality
Hypopituitarism – Thyroid function tests, growth hormone levels, cortisol levels
Gonadal dysfunction – Testosterone level in males; prolactin level in females


* [[Cytology]] of the [[cerebrospinal fluid|CSF]] often is studied to detect [[metastasis]] into the [[spine]]. This is important for staging and radiotherapy planning.


==References==
==References==

Revision as of 16:29, 11 February 2016

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: {{Simrat}

Overview

Laboratory Findings

Tumor markers may be measured in serum and cerebrospinal fluid (CSF).[49, 50] Tumor marker levels are usually higher in CSF than in serum.[49] Detection of elevated tumor markers may be sufficient for diagnosis in patients in whom endoscopic biopsy is not considered possible.

Although elevated alpha-fetoprotein levels may be seen in the germ cell tumors; however, AFP levels may be normally elevated both in serum and CSF of neonates and infants. Alpha-fetoprotein (AFP) levels may be elevated in the following tumors:

  • Pure endodermal sinus tumor (yolk sac)
  • Embryonal carcinoma
  • Malignant teratoma.

Interpretation of the AFP level must take into account the normal variation seen in this age group. The median AFP levels in CSF, in normal infants, are as follows:

Age AFP levels
≤31 days
  • 61 kIU/L
32-110 days
  • 1.2 kIU/L
8-12 months
  • Adult levels

Other relevant tumor marker findings are as follows:

Levels of beta human chorionic gonadotropin (β-hCG) above 50-100 IU/L indicate the presence of choriocarcinoma while lower levels may indicate pure germinoma that contain syncytotrophoblastic giant cells. [17, 51, 32, 6] Carcinoembryonic antigen (CEA) levels may be increased in nongerminomatous germ cell tumors (NGGCTs) or their components. In addition to tumor marker measurement, CSF cytology may be performed to detect malignant cells.[52]

Pure germinomas and mature teratomas typically present with normal levels of AFP and beta-hCG in both serum and CSF. Some histologically confirmed germinomas have elevated beta-hCG levels that are presumed to be due to beta-hCG secreting syncytiotrophoblasts. In such cases, elevations of serum beta-hCG are generally limited (<50 IU/L), although some tumors have levels >100 IU/L [14]. (See 'Beta-HCG secreting germinomas' below.)

Any tumor with an elevated AFP (>10 microg/L or higher than the institutional normal range) can be assumed to contain elements of endodermal sinus tumor and/or immature teratoma. If a histologic diagnosis is not possible because surgery is contraindicated, such a patient should be treated as having a NGGCT. Pure endodermal sinus tumor or pure choriocarcinomas are often associated with dramatic elevations in AFP (>500 microg/L) or beta-hCG (>1000 IU/L), whereas immature teratomas have less dramatic elevations of AFP and/or beta-hCG. A serum AFP >1000 microg/L has recently been identified as a poor prognostic indicator [24,25], but since a significant proportion of these tumors have mixed components, it is not yet feasible to use tumor markers for risk stratification without a tissue diagnosis.

Measurement of AFP and beta-hCG in the CSF is more sensitive than serum levels in detecting abnormalities. However, discordant serum and CSF tumor marker results have been observed, and both serum and CSF tumor markers should be obtained in the absence of clinical contraindications. If a lumbar puncture can be safely performed, lumbar CSF is considered more accurate for tumor markers and cytology than ventricular CSF. However, if a lumbar puncture is contraindicated, then tumor markers from ventricular CSF can be used for diagnostic purpose.


Studies to detect the hormonal dysfunction that may occur in patients with central nervous system (CNS) germinomas are as follows: Diabetes insipidus – Serum sodium, serum osmolality, and urine osmolality Hypopituitarism – Thyroid function tests, growth hormone levels, cortisol levels Gonadal dysfunction – Testosterone level in males; prolactin level in females


References


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