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This article covers '''germ cell tumours''' which | [[Image:Mixed_Germ_Cell_Tumor_of_Testis_(3260625567).jpg|thumb|right|Testicular [[mixed germ cell tumour]]. (WC/euthman)]] | ||
This article covers '''germ cell tumours''', often abbreviated [[GCT]], which classically arise in the gonads ([[ovary]], [[testis]]). They are also found in the midline and make appearances in [[neuropathology]] (e.g. [[pineal gland]]) and in the [[mediastinum]]. | |||
==Overview== | ==Overview== | ||
===Germ cell tumour - types=== | |||
* | Precusor: | ||
* | *[[Intratubular germ cell neoplasia]]. | ||
* | |||
* | Germ cell tumours (GCTs): | ||
* | *[[Germinoma]]/[[Seminoma]]/[[Dysgerminoma]]. | ||
* | *[[Yolk sac tumour]] (endodermal sinus tumour). | ||
* | *[[Embryonal carcinoma]]. | ||
*[[Choriocarcinoma]]. | |||
*[[Teratoma]]. | |||
*[[Mixed germ cell tumour]] (mixed GCT) - 60% of GCTs are mixed. | |||
**Common combinations: | |||
**# teratoma + embryonal carcinoma + endodermal sinus tumour (yolk sac tumour) (TEE). | |||
**# seminoma + embryonal (SE). | |||
**# embryonal + teratoma (TE). | |||
*[[Gonadoblastoma]]. | |||
*[[Polyembryoma]]. | |||
===Grossing=== | |||
{{Main|Orchiectomy}} | |||
*1 cm<sup>2</sup> of tumour per cm of maximal tumour dimension - guideline for testicular cancer.<ref>URL: [http://www.uroweb.org/gls/pdf/10_Testicular_Cancer.pdf http://www.uroweb.org/gls/pdf/10_Testicular_Cancer.pdf]. Accessed on: 30 October 2012.</ref> | |||
===IHC for GCTs=== | ===IHC for GCTs=== | ||
ABCDs of GCTs | ====ISUP==== | ||
An algorithmic approach based on the ISUP consensus paper by Ulbright ''et al.'':<ref name=pmid24832161>{{cite journal |author=Ulbright TM, Tickoo SK, Berney DM, Srigley JR |title=Best practices recommendations in the application of immunohistochemistry in testicular tumors: report from the international society of urological pathology consensus conference |journal=Am. J. Surg. Pathol. |volume=38 |issue=8 |pages=e50–9 |year=2014 |month=August |pmid=24832161 |doi=10.1097/PAS.0000000000000233 |url=}}</ref> | |||
{{familytree/start}} | |||
{{familytree | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | |A01=[[Germ cell tumours]]}} | |||
{{familytree | | | | | |,|-|-|-|-|-|-|-|^|-|-|-|-|-|-|-|.| | | | | | | | | | | |}} | |||
{{familytree | | | | | B01 | | | | | | | | | | | | | | B02 | | | | | | | | | | |B01=OCT4 +ve | B02=OCT4 -ve}} | |||
{{familytree | |,|-|-|-|^|-|-|-|.| | | | | |,|-|-|-|-|-|+|-|-|-|-|-|.| | | | | |}} | |||
{{familytree | C01 | | | | | | C02 | | | | C03 | | | | C04 | | | | C05 | | | | |C01=CD117 +ve<br>CD30 -ve |C02= CD117 -ve<br>CD30 +ve|C03=[[Glypican 3]] +ve<br>AFP +ve<br>beta-hCG -ve|C04=Glypican 3 ?<br>AFP -ve<br>beta-hCG +ve|C05=Glypican 3 -ve<br>AFP -ve<br>beta-hCG -ve}} | |||
{{familytree | |!| | | | | | | |!| | | | | |!| | | | | |!| | | | | |!| | | | | |}} | |||
{{familytree | D01 | | | | | | D02 | | | | D03 | | | | D04 | | | | D05 | | | | |D01=[[Seminoma]]|D02=[[Embryonal carcinoma]]|D03=[[Yolk sac tumour]]|D04=[[Choriocarcinoma]] |D05= [[Spermatocytic seminoma]] }} | |||
{{familytree/end}} | |||
====ABCDs of GCTs==== | |||
*AFP - yolk sac tumour. | *AFP - yolk sac tumour. | ||
*Beta-hCG - choriocarcinoma. | *Beta-hCG - choriocarcinoma. | ||
*CD30 - embryonal carcinoma. | *CD30 - embryonal carcinoma. | ||
*D2-40 - seminoma. | *D2-40 - seminoma. | ||
====GCT versus sex cord-stromal tumour==== | |||
The ISUP recommends:<ref name=pmid25025364>{{cite journal |author=Amin MB, Epstein JI, Ulbright TM, ''et al.'' |title=Best practices recommendations in the application of immunohistochemistry in urologic pathology: report from the international society of urological pathology consensus conference |journal=Am. J. Surg. Pathol. |volume=38 |issue=8 |pages=1017–22 |year=2014 |month=August |pmid=25025364 |doi=10.1097/PAS.0000000000000254 |url=}}</ref> | |||
*[[SALL4]] +ve (in GCTs).<ref name=pmid24525512>{{cite journal |author=Miettinen M, Wang Z, McCue PA, ''et al.'' |title=SALL4 expression in germ cell and non-germ cell tumors: a systematic immunohistochemical study of 3215 cases |journal=Am. J. Surg. Pathol. |volume=38 |issue=3 |pages=410–20 |year=2014 |month=March |pmid=24525512 |doi=10.1097/PAS.0000000000000116 |url=}}</ref> | |||
*Alpha-inhibin -ve (+ve in [[SCST]]). | |||
*Calretinin -ve (+ve in SCST). | |||
Alternates for SALL4 are:<ref name=pmid25025364/> | |||
*OCT4 and GPC3. | |||
===Tabular summary of GCTs=== | ===Tabular summary of GCTs=== | ||
{| class="wikitable" | {| class="wikitable sortable" | ||
! | ! Tumour | ||
! | ! Key feature | ||
! | ! Microscopic | ||
! | ! IHC | ||
! | ! Other | ||
! | ! Image | ||
|- | |- | ||
| | | [[Germ cell neoplasia in situ]] (GCNIS) | ||
| nests of small fried egg cells | | nests of small fried egg cells | ||
| large central nucleus, clear <br>cytoplasm, squared-off nuclear membrane, nucleoli<ref name=Ref_GUP538>{{Ref GUP|538}}</ref> | | large central nucleus, clear <br>cytoplasm, squared-off nuclear membrane, nucleoli<ref name=Ref_GUP538>{{Ref GUP|538}}</ref> | ||
| CD117 | | CD117 +ve, CD30 -ve | ||
| appearance similar to seminoma | | appearance similar to [[seminoma]] | ||
| [ | | [[Image:Intratubular_germ_cell_neoplasia_high_mag_cropped.jpg|thumb|center|150px|GCNIS (WC/Nephron)]] | ||
|- | |- | ||
| Germinoma / Seminoma / Dysgerminoma | | [[Germinoma]] / [[Seminoma]] / [[Dysgerminoma]] | ||
| fried egg cells | | fried egg cells | ||
| fried egg-like cells (central nucleus, clear <br>cytoplasm) with squared-off nuclear <br>membrane, nucleoli, lymphocytic infiltrate, granulomata,<br>syncytiotrophoblastic giant cells<ref name=Ref_GUP542>{{Ref GUP|542}}</ref> | | fried egg-like cells (central nucleus, clear <br>cytoplasm) with squared-off nuclear <br>membrane, nucleoli, lymphocytic infiltrate, granulomata,<br>syncytiotrophoblastic giant cells<ref name=Ref_GUP542>{{Ref GUP|542}}</ref> | ||
| D2-40 | | D2-40 | ||
| seminoma = male version of this tumour; dysgerminoma = female version of this tumour | | seminoma = male version of this tumour; dysgerminoma = female version of this tumour | ||
| [ | | [[Image:Seminoma_intermed_mag.jpg|thumb|center|150px|Seminoma (WC/Nephron)]] | ||
|- | |- | ||
| [[Yolk sac tumour]] (endodermal sinus tumour) | | [[Yolk sac tumour]] (endodermal sinus tumour) | ||
| Schiller-Duval bodies | | Schiller-Duval bodies | ||
| Schiller-Duval b. = central blood vessel surrounded by epithelial-like cells a space and more epithelial-like cells, variable arch. | | Schiller-Duval b. = central blood vessel surrounded by epithelial-like cells a space and more epithelial-like cells, variable arch. | ||
| AFP | | [[AFP]] +ve, [[Glypican 3]] +ve | ||
| patterns: microcystic, solid, hepatoid | | patterns: microcystic, solid, hepatoid | ||
| [ | | [[Image:Mixed_germ_cell_tumour_-_very_high_mag.jpg|thumb|center|150px|Yolk sac tumour (WC)]] | ||
|- | |- | ||
| [[Embryonal carcinoma]] | | [[Embryonal carcinoma]] | ||
| prominent nucleoli, vescicular nuclei | | prominent nucleoli, vescicular nuclei | ||
| var. arch.: tubulopapillary, glandular, solid, embryoid bodies (ball of cells in surrounded by empty space on three sides), +/-nuclear overlap, mitoses common | | var. arch.: tubulopapillary, glandular, solid, embryoid bodies (ball of cells in surrounded by empty space on three sides), +/-nuclear overlap, mitoses common | ||
| CD30 | | CD30 +ve, CD117 -ve | ||
| usu. part of a mixed GCT | | usu. part of a mixed GCT | ||
| [ | | [[Image:Embryonal_carcinoma_high_mag.jpg|thumb|center|150px|Embryonal carcinoma (WC/Nephron)]] | ||
|- | |- | ||
| [[Choriocarcinoma]] | | [[Choriocarcinoma]] | ||
| clear cytoplasm | | clear cytoplasm | ||
| cells with abundant clear cytoplasm and eccentric atypical nuclei (cytotrophoblast), very large (multinucleated) cells with abundant eosinophilic cytoplasm and extreme nuclear atypia (syncytiotrophoblast) | | cells with abundant clear cytoplasm and eccentric atypical nuclei (cytotrophoblast), very large (multinucleated) cells with abundant eosinophilic cytoplasm and extreme nuclear atypia (syncytiotrophoblast) | ||
| beta-hCG | | beta-hCG +ve | ||
| | | may be preceded by a [[complete mole|complete hydatidiform mole]] | ||
| [ | | [[Image:Choriocarcinoma_-2-_very_high_mag.jpg|thumb|center|150px|Choriocarcinoma. (WC/Nephron)]] | ||
|- | |- | ||
| [[Teratoma]], immature | | [[Teratoma]], immature | ||
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| pseudostratified epithelium in rosettes (gland-like arrangement) | | pseudostratified epithelium in rosettes (gland-like arrangement) | ||
| None | | None | ||
| | | testicular teratomas in post-pubertal males are all considered malignant<ref>{{Cite journal | last1 = Carver | first1 = BS. | last2 = Al-Ahmadie | first2 = H. | last3 = Sheinfeld | first3 = J. | title = Adult and pediatric testicular teratoma. | journal = Urol Clin North Am | volume = 34 | issue = 2 | pages = 245-51; abstract x | month = May | year = 2007 | doi = 10.1016/j.ucl.2007.02.013 | PMID = 17484929 }}</ref> | ||
| | | [[Image:Primitive_neuroepithelium_intermed_mag.jpg|thumb|center|150px|Primitive neuroepithelium (WC/Nephron)]] | ||
|- | |- | ||
| Mixed germ cell tumour | | [[Mixed germ cell tumour]] | ||
| NA | | NA | ||
| common combinations: teratoma + embryonal carcinoma + endodermal sinus tumour (yolk sac tumour) (TEE); seminoma + embryonal (SE); embryonal + teratoma (TE) | | common combinations: teratoma + embryonal carcinoma + endodermal sinus tumour (yolk sac tumour) (TEE); seminoma + embryonal (SE); embryonal + teratoma (TE) | ||
| NA | | NA | ||
| - | | - | ||
| - | | [[Image:Mixed_germ_cell_tumour_-_intermed_mag.jpg|thumb|center|150px|Mixed GCT (WC/Nephron)]] | ||
|- | |- | ||
| Gonadoblastoma | | [[Gonadoblastoma]] | ||
| primitive germ cells (central nucleus, moderate (eosinophilic) cytoplasm); sex cord element | | primitive germ cells (central nucleus, moderate (eosinophilic) cytoplasm); sex cord element | ||
| sex cord element may be either granulosa cells (follicle-like arch.) or Sertoli cells (trabecular arch.) | | sex cord element may be either granulosa cells (follicle-like arch.) or Sertoli cells (trabecular arch.) | ||
| ? | | ? | ||
| often abnormal karyotype; usu. Y chromosome present | | often abnormal karyotype; usu. Y chromosome present | ||
| [ | | [[Image:Gonadoblastoma_-_intermed_mag.jpg|thumb|center|150px|Gonadoblastoma (WC/Nephron)]] | ||
|} | |} | ||
===Molecular pathology=== | |||
Most common cytogenetic abnormality in GCTs: | |||
*[[Isochromosome 12p]].<ref name=pmid10357096>{{Cite journal | last1 = Looijenga | first1 = LH. | last2 = Oosterhuis | first2 = JW. | title = Pathogenesis of testicular germ cell tumours. | journal = Rev Reprod | volume = 4 | issue = 2 | pages = 90-100 | month = May | year = 1999 | doi = | PMID = 10357096 }}</ref> | |||
** Isochromosome = one arm (p or q) is lost and replaced with a duplicate of the remaining one. | |||
***Example: isochromosome 12p = chromosome 12 where q is lost and two p arms are present.<ref>URL: [http://ghr.nlm.nih.gov/handbook/illustrations/isochromosomes http://ghr.nlm.nih.gov/handbook/illustrations/isochromosomes]. Accessed on: 15 February 2012.</ref> | |||
==Germinoma== | ==Germinoma== | ||
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===Germinoma=== | ===Germinoma=== | ||
Is the generic version of this tumour. It is found in the midline (brain, mediastinum). | Is the generic version of this tumour. It is found in the midline ([[brain tumour|brain]], [[mediastinum]]). | ||
Image: [http://path.upmc.edu/cases/case525/images/fig02a.jpg Germinoma (upmc.edu)].<ref>URL: [http://path.upmc.edu/cases/case525.html http://path.upmc.edu/cases/case525.html]. Accessed on: 25 January 2012.</ref> | |||
<gallery> | |||
Image:Neuropathology_case_VIII_01.jpg | Germinoma of the brain, low mag. (WC/jensflorian) | |||
Image:Neuropathology_case_VIII_02.jpg | Germinoma intermed. mag. (WC/jensflorian) | |||
Image:Neuropathology_case_VIII_03.jpg | Germinoma very high. mag. (WC/jensflorian) | |||
Image:Neuropathology_case_VIII_05.jpg | Germinoma Oct3/4 staining (WC/jensflorian) | |||
</gallery> | |||
===Seminoma=== | ===Seminoma=== | ||
{{Main| | {{Main|Seminoma}} | ||
A common GCT in males. | A common GCT in males. | ||
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==Yolk sac tumour== | ==Yolk sac tumour== | ||
{{Main|Yolk sac tumour}} | |||
==Embryonal carcinoma== | ==Embryonal carcinoma== | ||
{{Main|Embryonal carcinoma}} | |||
==Choriocarcinoma== | ==Choriocarcinoma== | ||
{{Main|Choriocarcinoma}} | |||
==Teratoma== | ==Teratoma== | ||
{{Main|Teratoma}} | |||
==Gonadoblastoma== | ==Gonadoblastoma== | ||
{{Main|Gonadoblastoma}} | |||
== | ==Polyembryoma== | ||
{{Main|Polyembryoma}} | |||
==Mixed germ cell tumour== | |||
{{Main|Mixed germ cell tumour}} | |||
==See also== | ==See also== | ||
*[[Testis]]. | *[[Testis]]. | ||
*[[Ovarian tumours]]. | *[[Ovarian tumours]]. | ||
*[[Trophoblast]]. | |||
*[[Sex cord-stromal tumours]]. | |||
==References== | ==References== | ||
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[[Category:Gynecologic pathology]] | [[Category:Gynecologic pathology]] | ||
[[Category:Genitourinary pathology]] | [[Category:Genitourinary pathology]] | ||
[[Category:Germ cell tumours|Germ cell tumours]] |
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