Gonadoblastoma pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
The exact pathogenesis of gonadoblastoma is not fully understood. Gonadal development starts at 5 weeks of [[gestation]] and continues according to sex | The exact [[pathogenesis]] of gonadoblastoma is not fully understood. [[Gonadal]] development starts at 5 weeks of [[gestation]] and continues according to [[sex chromosomes]]. Any [[defects]] in this [[Complication|complicated]] process leads to [[Defective lymphocytes production|defective]] [[gonadal]] development and [[gonadal dysgenesis]] and subsequently, it may be converted to gonadoblastoma in 20% to 30% of the cases. | ||
==Pathophysiology== | ==Pathophysiology== | ||
==Physiology== | ===Physiology=== | ||
Gonadal development starts at 5 weeks of [[gestation]] and continues according to sex | [[Gonad|Gonadal]] development starts at 5 weeks of [[gestation]] and continues according to [[sex chromosomes]]. Any defects in this complicated process lead to defective [[gonadal]] development and [[gonadal dysgenesis]].<ref>{{cite book | last = Carcangiu | first = M. L. | title = WHO Classification of Tumours of Female Reproductive Organs | publisher = International Agency for Research on Cancer | location = Lyon | year = 2014 | isbn = 978-9283224358 }}</ref><ref name="pmid16608895">{{cite journal |vauthors=Cools M, Stoop H, Kersemaekers AM, Drop SL, Wolffenbuttel KP, Bourguignon JP, Slowikowska-Hilczer J, Kula K, Faradz SM, Oosterhuis JW, Looijenga LH |title=Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue=6 |pages=2404–13 |date=June 2006 |pmid=16608895 |doi=10.1210/jc.2005-2554 |url=}}</ref> | ||
===Pathogenesis=== | ===Pathogenesis=== | ||
*The exact pathogenesis of gonadoblastoma is not completely understood.<ref name="KidoLau2008">{{cite journal|last1=Kido|first1=Tatsuo|last2=Lau|first2=Yun-Fai Chris|title=The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein|journal=International Journal of Cancer|volume=123|issue=7|year=2008|pages=1573–1585|issn=00207136|doi=10.1002/ijc.23697}}</ref> | *The exact [[pathogenesis]] of gonadoblastoma is not completely understood.<ref name="KidoLau2008">{{cite journal|last1=Kido|first1=Tatsuo|last2=Lau|first2=Yun-Fai Chris|title=The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein|journal=International Journal of Cancer|volume=123|issue=7|year=2008|pages=1573–1585|issn=00207136|doi=10.1002/ijc.23697}}</ref> | ||
*Gonadoblastoma develop almost exclusively in dysgenetic | *Gonadoblastoma develop almost exclusively in dysgenetic [[gonad]]<nowiki/>s containing the [[Y chromosome|Y chromosom]]<nowiki/>[[Y chromosome|al]] contents. | ||
*The GBY gene locus, localized near the [[centromere]] of the Y chromosome, is hypothesized to be the culprit gene locus in the [[pathogenesis]] of gonadoblastoma. | *The GBY gene locus, localized near the [[centromere]] of the [[Y chromosome]], is hypothesized to be the culprit [[gene]] [[locus]] in the [[pathogenesis]] of gonadoblastoma. | ||
*TSPY gene, one of the genes belonging to GBY locus, is observed to be | *TSPY [[gene]], one of the genes belonging to GBY [[locus]], is observed to be [[Overexpression|over-expressed]] in the gonadoblastoma and other [[germ cell tumors]], although its exact role is still unclear. | ||
*There are case reports of genotypically normal women individuals with gonadoblastoma that suggests the existence of other mechanisms involving in the pathogenesis of gonadoblastoma.<ref name="pmid3809670">{{cite journal |vauthors=Bousquet G, Argenson C, Godeneche JL, Cisterne JP, Gazielly DF, Girardin P, Debiesse JL |title=[Recovery after aseptic loosening of cemented total hip arthroplasties with Bousquet's cementless prosthesis. Apropos of 136 cases] |language=French |journal=Rev Chir Orthop Reparatrice Appar Mot |volume=72 Suppl 2 |issue= |pages=70–4 |date=1986 |pmid=3809670 |doi= |url=}}</ref><ref name="pmid27721289">{{cite journal |vauthors=Kulkarni MM, Sinai Khandeparkar SG, Joshi AR, Bhayekar PV |title=Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology |journal=Indian J Pathol Microbiol |volume=59 |issue=4 |pages=527–529 |date=2016 |pmid=27721289 |doi=10.4103/0377-4929.191815 |url=}}</ref> | *There are case reports of [[Genotype|genotypically]] normal women individuals with gonadoblastoma that suggests the existence of other mechanisms involving in the [[pathogenesis]] of gonadoblastoma.<ref name="pmid3809670">{{cite journal |vauthors=Bousquet G, Argenson C, Godeneche JL, Cisterne JP, Gazielly DF, Girardin P, Debiesse JL |title=[Recovery after aseptic loosening of cemented total hip arthroplasties with Bousquet's cementless prosthesis. Apropos of 136 cases] |language=French |journal=Rev Chir Orthop Reparatrice Appar Mot |volume=72 Suppl 2 |issue= |pages=70–4 |date=1986 |pmid=3809670 |doi= |url=}}</ref><ref name="pmid27721289">{{cite journal |vauthors=Kulkarni MM, Sinai Khandeparkar SG, Joshi AR, Bhayekar PV |title=Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology |journal=Indian J Pathol Microbiol |volume=59 |issue=4 |pages=527–529 |date=2016 |pmid=27721289 |doi=10.4103/0377-4929.191815 |url=}}</ref> | ||
*It is [[Hypothesis|hypothesized]] that the [[Genotype|genotypically]] normal [[female]] individuals may have the TSPY putative [[gene]] on their [[X chromosomes]] or [[autosomes]].<ref name="pmid27721289">{{cite journal |vauthors=Kulkarni MM, Sinai Khandeparkar SG, Joshi AR, Bhayekar PV |title=Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology |journal=Indian J Pathol Microbiol |volume=59 |issue=4 |pages=527–529 |date=2016 |pmid=27721289 |doi=10.4103/0377-4929.191815 |url=}}</ref> | |||
==Genetics== | ==Genetics== | ||
Genes involved in the pathogenesis of gonadoblastoma include: | [[Genes]] involved in the [[pathogenesis]] of gonadoblastoma include:<ref name="pmid8533770">{{cite journal |vauthors=Tsuchiya K, Reijo R, Page DC, Disteche CM |title=Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome |journal=Am. J. Hum. Genet. |volume=57 |issue=6 |pages=1400–7 |date=December 1995 |pmid=8533770 |pmc=1801429 |doi= |url=}}</ref> | ||
*TSPY | *TSPY | ||
==Associated Conditions== | ==Associated Conditions== | ||
The following [[disorders]] are associated with the development of gonadoblastoma: | |||
*XY [[gonadal dysgenesis]]<ref name="urlYen & Jaffes Reproductive Endocrinology | ScienceDirect">{{cite web |url=https://www.sciencedirect.com/book/9781455727582/yen-and-jaffes-reproductive-endocrinology |title=Yen & Jaffe's Reproductive Endocrinology | ScienceDirect |format= |work= |accessdate=}}</ref> | |||
*[[Frasier syndrome]]<ref name="urlEmery and Rimoins Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications by Reed E. Pyeritz M.D., Ph.D., FACP, FACMG | | NOOK Book (eBook) | Barnes & Noble®">{{cite web |url=https://www.barnesandnoble.com/w/emery-and-rimoins-principles-and-practice-of-medical-genetics-and-genomics-reed-e-pyeritz/1128560551?ean=9780128126844&msclkid=798cf38fc54f1747fe0fafd63339330f&st=PLA&sid=BNB_NOOK%20EBooks&sourceId=PLABiNA&dpid=tdtve346c&2sid=Bing_c&adlclid=ADL-c79ff15c-1619-4346-85f6-a6bedd319476 |title=Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications by Reed E. Pyeritz M.D., Ph.D., FACP, FACMG | | NOOK Book (eBook) | Barnes & Noble® |format= |work= |accessdate=}}</ref> | *[[Frasier syndrome]]<ref name="urlEmery and Rimoins Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications by Reed E. Pyeritz M.D., Ph.D., FACP, FACMG | | NOOK Book (eBook) | Barnes & Noble®">{{cite web |url=https://www.barnesandnoble.com/w/emery-and-rimoins-principles-and-practice-of-medical-genetics-and-genomics-reed-e-pyeritz/1128560551?ean=9780128126844&msclkid=798cf38fc54f1747fe0fafd63339330f&st=PLA&sid=BNB_NOOK%20EBooks&sourceId=PLABiNA&dpid=tdtve346c&2sid=Bing_c&adlclid=ADL-c79ff15c-1619-4346-85f6-a6bedd319476 |title=Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications by Reed E. Pyeritz M.D., Ph.D., FACP, FACMG | | NOOK Book (eBook) | Barnes & Noble® |format= |work= |accessdate=}}</ref> | ||
*[[WAGR syndrome]]<ref name="PatelPappas2013">{{cite journal|last1=Patel|first1=Payal R.|last2=Pappas|first2=John|last3=Arva|first3=Nicoleta C.|last4=Franklin|first4=Bonita|last5=Brar|first5=Preneet Cheema|title=Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy|journal=Journal of Pediatric Endocrinology and Metabolism|volume=26|issue=9-10|year=2013|issn=2191-0251|doi=10.1515/jpem-2012-0409}}</ref> | |||
*[[WAGR syndrome]] | *[[Swyer syndrome]]<ref name="MilewiczMrozińska2016">{{cite journal|last1=Milewicz|first1=Tomasz|last2=Mrozińska|first2=Sandra|last3=Szczepański|first3=Wojciech|last4=Białas|first4=Magdalena|last5=Kiałka|first5=Marta|last6=Doroszewska|first6=Katarzyna|last7=Kabzińska-Turek|first7=Monika|last8=Wojtyś|first8=Andrzej|last9=Ludwin|first9=Artur|last10=Chmura|first10=Łukasz|title=Dysgerminoma and gonadoblastoma in the course of Swyer syndrome|journal=Polish Journal of Pathology|volume=4|year=2016|pages=411–414|issn=1233-9687|doi=10.5114/pjp.2016.65876}}</ref> | ||
*[[Swyer syndrome]] | *9p partial [[monosomy]]<ref name="QuinonezPark2013">{{cite journal|last1=Quinonez|first1=Shane C.|last2=Park|first2=John M.|last3=Rabah|first3=Raja|last4=Owens|first4=Kailey M.|last5=Yashar|first5=Beverly M.|last6=Glover|first6=Thomas W.|last7=Keegan|first7=Catherine E.|title=9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism|journal=American Journal of Medical Genetics Part A|volume=161|issue=8|year=2013|pages=1882–1896|issn=15524825|doi=10.1002/ajmg.a.36018}}</ref> | ||
*[[9p partial monosomy | |||
==Gross Pathology== | ==Gross Pathology== | ||
Gross pathology of tumor greatly depends on the degree of germ cells overgrowth and [[calcification]] | *[[Gross pathology]] of [[tumor]] greatly depends on the degree of [[germ cells]] overgrowth and [[calcification]].<ref name="pmid4193741">{{cite journal| author=Scully RE| title=Gonadoblastoma. A review of 74 cases. | journal=Cancer | year= 1970 | volume= 25 | issue= 6 | pages= 1340-56 | pmid=4193741 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4193741 }}</ref> | ||
*The [[tumor]] is firm and [[cartilaginous]] with a yellow to a brown-grey color. | |||
*It may be calcified partly or almost completely. | |||
*It may be very large, especially when accompanied by a [[dysgerminoma]]. | |||
*Sometimes, it is hardly detectable in [[gross examination]]. | |||
==Microscopic Pathology== | ==Microscopic Pathology== | ||
{| align="right" | {| align="right" | ||
|[[File:1280px-Gonadoblastoma - low mag.jpg|thumb|none|300px|Microscopic pathology of gonadoblastoma [https://commons.wikimedia.org/wiki/File:Gonadoblastoma_-_b_-_high_mag.jpg Source:Wikimedia Commons] ]] | |[[File:1280px-Gonadoblastoma - low mag.jpg|thumb|none|300px|Microscopic pathology of gonadoblastoma [https://commons.wikimedia.org/wiki/File:Gonadoblastoma_-_b_-_high_mag.jpg Source:Wikimedia Commons] ]] | ||
|} | |} | ||
Gonadoblastoma is formed from two different types of cells: | Gonadoblastoma is formed from two different types of cells:<ref name="CoolsStoop2006">{{cite journal|last1=Cools|first1=Martine|last2=Stoop|first2=Hans|last3=Kersemaekers|first3=Anne-Marie F.|last4=Drop|first4=Stenvert L. S.|last5=Wolffenbuttel|first5=Katja P.|last6=Bourguignon|first6=Jean-Pierre|last7=Slowikowska-Hilczer|first7=Jolanta|last8=Kula|first8=Krzysztof|last9=Faradz|first9=Sultana M. H.|last10=Oosterhuis|first10=J. Wolter|last11=Looijenga|first11=Leendert H. J.|title=Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads|journal=The Journal of Clinical Endocrinology & Metabolism|volume=91|issue=6|year=2006|pages=2404–2413|issn=0021-972X|doi=10.1210/jc.2005-2554}}</ref> | ||
Gonadoblastoma classified pathologically into three forms:<ref name="pmid4193741">{{cite journal |vauthors=Scully RE |title=Gonadoblastoma. A review of 74 cases |journal=Cancer |volume=25 |issue=6 |pages=1340–56 |date=June 1970 |pmid=4193741 |doi= |url=}}</ref><ref name="UlbrightYoung2014">{{cite journal|last1=Ulbright|first1=Thomas M.|last2=Young|first2=Robert H.|title=Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development|journal=Seminars in Diagnostic Pathology|volume=31|issue=5|year=2014|pages=427–440|issn=07402570|doi=10.1053/j.semdp.2014.07.001}}</ref> | *Larger [[cells]] resembling immature [[germ cells]] with varied degrees of [[atypia]] must be differentiated from the simultaneous [[invasive]] [[Germ cell tumors|germ cell tumor]]. | ||
*Classical form | *Smaller [[cells]] resembling the [[sex-cord stroma]] ([[granulosa]] or [[sertoli]]-like cells). | ||
*Burnt-out form, in which the cells regress and the remnant is calcified and forms a mulberry-shaped [[calcification]]. | *Another kind of [[stromal cells]] ([[Leydig cell|Leydig cells]] or [[lutein]]-like cells) may also exist, but their presence is not essential for the [[diagnosis]]. They tend to be present greatly after [[puberty]]. | ||
*Dissecting form which has | The two essential type of [[cells]] forms a nest-like space in which, [[Immature ova|immature]] [[germ cells]] surrounded by sex-cord stromal cells. This nested arrangement is characteristic of gonadoblastoma. | ||
*The nest is encircled by a [[basement membrane]] which can be [[Hyaline|hyalin]]<nowiki/>[[Hyaline|ized]] or even calcified. | |||
*[[Calcification]] can be focal or extensive. | |||
* Focal [[calcification]] is found in more than 80% of the individuals. | |||
*The nodular pattern of [[Hyaline|hyalinized]] [[basement membrane]] encircled by [[stromal cells]] can also be present. | |||
Gonadoblastoma may be classified [[Pathological|pathologically]] into three forms:<ref name="pmid4193741">{{cite journal |vauthors=Scully RE |title=Gonadoblastoma. A review of 74 cases |journal=Cancer |volume=25 |issue=6 |pages=1340–56 |date=June 1970 |pmid=4193741 |doi= |url=}}</ref><ref name="UlbrightYoung2014">{{cite journal|last1=Ulbright|first1=Thomas M.|last2=Young|first2=Robert H.|title=Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development|journal=Seminars in Diagnostic Pathology|volume=31|issue=5|year=2014|pages=427–440|issn=07402570|doi=10.1053/j.semdp.2014.07.001}}</ref> | |||
*Classical form as described above. | |||
*Burnt-out form, in which the [[cells]] regress and the remnant is calcified and forms a mulberry-shaped [[calcification]]. | |||
*Dissecting form, which has an [[Infiltration (medical)|infiltrative]] and cord like pattern rather than a nested arrangement. The [[Clinical|clinical relevance]] of this [[pathological]] feature is that, it should be differentiated from [[germinoma]].<ref name="KaoIdrees2016">{{cite journal|last1=Kao|first1=Chia-Sui|last2=Idrees|first2=Muhammad T.|last3=Young|first3=Robert H.|last4=Ulbright|first4=Thomas M.|title=“Dissecting Gonadoblastoma” of Scully|journal=The American Journal of Surgical Pathology|volume=40|issue=10|year=2016|pages=1417–1423|issn=0147-5185|doi=10.1097/PAS.0000000000000704}}</ref> | |||
===Immunohistochemistry=== | |||
Gonadoblastoma has no specific [[laboratory]] feature, however, some [[immunohistochemistry]] [[staining]] can be positive including:<ref name="978-1-4557-4858-7">{{cite book | last = Sperling | first = M | title = Pediatric endocrinology | publisher = Elsevier/Saunders | location = Philadelphia, PA | year = 2014 | isbn = 978-1-4557-4858-7 }}</ref><ref name="KaoUlbright2014">{{cite journal|last1=Kao|first1=Chia-Sui|last2=Ulbright|first2=Thomas M|last3=Idrees|first3=Muhammad T|title=Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications|journal=Histopathology|volume=65|issue=6|year=2014|pages=861–867|issn=03090167|doi=10.1111/his.12444}}</ref> | |||
* TSPY | |||
* OCT3/4 | |||
* FoxL | |||
* SF-1 | |||
* Sox9 | |||
Germ cells may be positive for:<ref name="GruWilliams2017">{{cite journal|last1=Gru|first1=Alejandro A.|last2=Williams|first2=Eli S.|last3=Cao|first3=Dengfeng|title=Mixed Gonadal Germ Cell Tumor Composed of a Spermatocytic Tumor-Like Component and Germinoma Arising in Gonadoblastoma in a Phenotypic Woman With a 46, XX Peripheral Karyotype|journal=The American Journal of Surgical Pathology|volume=41|issue=9|year=2017|pages=1290–1297|issn=0147-5185|doi=10.1097/PAS.0000000000000888}}</ref> | |||
* [[SALL4]] | |||
* [[OCT4]] | |||
The sex cord cells may be positive for: | |||
* [[Calretinin]] | |||
* [[WT1]] | |||
* [[Inhibin]] | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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{{WS}} | {{WS}} | ||
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[[Category:Medicine]] | |||
[[Category:Oncology]] | |||
[[Category:Gynecology]] | |||
[[Category:Up-To-Date]] | |||
Latest revision as of 21:54, 29 July 2020
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Gonadoblastoma Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Gonadoblastoma pathophysiology On the Web |
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American Roentgen Ray Society Images of Gonadoblastoma pathophysiology |
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Risk calculators and risk factors for Gonadoblastoma pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
The exact pathogenesis of gonadoblastoma is not fully understood. Gonadal development starts at 5 weeks of gestation and continues according to sex chromosomes. Any defects in this complicated process leads to defective gonadal development and gonadal dysgenesis and subsequently, it may be converted to gonadoblastoma in 20% to 30% of the cases.
Pathophysiology
Physiology
Gonadal development starts at 5 weeks of gestation and continues according to sex chromosomes. Any defects in this complicated process lead to defective gonadal development and gonadal dysgenesis.[1][2]
Pathogenesis
- The exact pathogenesis of gonadoblastoma is not completely understood.[3]
- Gonadoblastoma develop almost exclusively in dysgenetic gonads containing the Y chromosomal contents.
- The GBY gene locus, localized near the centromere of the Y chromosome, is hypothesized to be the culprit gene locus in the pathogenesis of gonadoblastoma.
- TSPY gene, one of the genes belonging to GBY locus, is observed to be over-expressed in the gonadoblastoma and other germ cell tumors, although its exact role is still unclear.
- There are case reports of genotypically normal women individuals with gonadoblastoma that suggests the existence of other mechanisms involving in the pathogenesis of gonadoblastoma.[4][5]
- It is hypothesized that the genotypically normal female individuals may have the TSPY putative gene on their X chromosomes or autosomes.[5]
Genetics
Genes involved in the pathogenesis of gonadoblastoma include:[6]
- TSPY
Associated Conditions
The following disorders are associated with the development of gonadoblastoma:
- XY gonadal dysgenesis[7]
- Frasier syndrome[8]
- WAGR syndrome[9]
- Swyer syndrome[10]
- 9p partial monosomy[11]
Gross Pathology
- Gross pathology of tumor greatly depends on the degree of germ cells overgrowth and calcification.[12]
- The tumor is firm and cartilaginous with a yellow to a brown-grey color.
- It may be calcified partly or almost completely.
- It may be very large, especially when accompanied by a dysgerminoma.
- Sometimes, it is hardly detectable in gross examination.
Microscopic Pathology
 |
Gonadoblastoma is formed from two different types of cells:[13]
- Larger cells resembling immature germ cells with varied degrees of atypia must be differentiated from the simultaneous invasive germ cell tumor.
- Smaller cells resembling the sex-cord stroma (granulosa or sertoli-like cells).
- Another kind of stromal cells (Leydig cells or lutein-like cells) may also exist, but their presence is not essential for the diagnosis. They tend to be present greatly after puberty.
The two essential type of cells forms a nest-like space in which, immature germ cells surrounded by sex-cord stromal cells. This nested arrangement is characteristic of gonadoblastoma.
- The nest is encircled by a basement membrane which can be hyalinized or even calcified.
- Calcification can be focal or extensive.
- Focal calcification is found in more than 80% of the individuals.
- The nodular pattern of hyalinized basement membrane encircled by stromal cells can also be present.
Gonadoblastoma may be classified pathologically into three forms:[12][14]
- Classical form as described above.
- Burnt-out form, in which the cells regress and the remnant is calcified and forms a mulberry-shaped calcification.
- Dissecting form, which has an infiltrative and cord like pattern rather than a nested arrangement. The clinical relevance of this pathological feature is that, it should be differentiated from germinoma.[15]
Immunohistochemistry
Gonadoblastoma has no specific laboratory feature, however, some immunohistochemistry staining can be positive including:[16][17]
- TSPY
- OCT3/4
- FoxL
- SF-1
- Sox9
Germ cells may be positive for:[18]
The sex cord cells may be positive for:
References
- ↑ Carcangiu, M. L. (2014). WHO Classification of Tumours of Female Reproductive Organs. Lyon: International Agency for Research on Cancer. ISBN 978-9283224358.
- ↑ Cools M, Stoop H, Kersemaekers AM, Drop SL, Wolffenbuttel KP, Bourguignon JP, Slowikowska-Hilczer J, Kula K, Faradz SM, Oosterhuis JW, Looijenga LH (June 2006). "Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads". J. Clin. Endocrinol. Metab. 91 (6): 2404–13. doi:10.1210/jc.2005-2554. PMID 16608895.
- ↑ Kido, Tatsuo; Lau, Yun-Fai Chris (2008). "The human Y-encoded testis-specific protein interacts functionally with eukaryotic translation elongation factor eEF1A, a putative oncoprotein". International Journal of Cancer. 123 (7): 1573–1585. doi:10.1002/ijc.23697. ISSN 0020-7136.
- ↑ Bousquet G, Argenson C, Godeneche JL, Cisterne JP, Gazielly DF, Girardin P, Debiesse JL (1986). "[Recovery after aseptic loosening of cemented total hip arthroplasties with Bousquet's cementless prosthesis. Apropos of 136 cases]". Rev Chir Orthop Reparatrice Appar Mot (in French). 72 Suppl 2: 70–4. PMID 3809670.
- ↑ 5.0 5.1 Kulkarni MM, Sinai Khandeparkar SG, Joshi AR, Bhayekar PV (2016). "Unilateral gonadoblastoma with dysgerminoma in normal fertile woman having a child: Extremely rare occurrence with characteristic immunohistomorphology". Indian J Pathol Microbiol. 59 (4): 527–529. doi:10.4103/0377-4929.191815. PMID 27721289.
- ↑ Tsuchiya K, Reijo R, Page DC, Disteche CM (December 1995). "Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome". Am. J. Hum. Genet. 57 (6): 1400–7. PMC 1801429. PMID 8533770.
- ↑ "Yen & Jaffe's Reproductive Endocrinology | ScienceDirect".
- ↑ "Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principles and Applications by Reed E. Pyeritz M.D., Ph.D., FACP, FACMG | | NOOK Book (eBook) | Barnes & Noble®".
- ↑ Patel, Payal R.; Pappas, John; Arva, Nicoleta C.; Franklin, Bonita; Brar, Preneet Cheema (2013). "Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy". Journal of Pediatric Endocrinology and Metabolism. 26 (9–10). doi:10.1515/jpem-2012-0409. ISSN 2191-0251.
- ↑ Milewicz, Tomasz; Mrozińska, Sandra; Szczepański, Wojciech; Białas, Magdalena; Kiałka, Marta; Doroszewska, Katarzyna; Kabzińska-Turek, Monika; Wojtyś, Andrzej; Ludwin, Artur; Chmura, Łukasz (2016). "Dysgerminoma and gonadoblastoma in the course of Swyer syndrome". Polish Journal of Pathology. 4: 411–414. doi:10.5114/pjp.2016.65876. ISSN 1233-9687.
- ↑ Quinonez, Shane C.; Park, John M.; Rabah, Raja; Owens, Kailey M.; Yashar, Beverly M.; Glover, Thomas W.; Keegan, Catherine E. (2013). "9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism". American Journal of Medical Genetics Part A. 161 (8): 1882–1896. doi:10.1002/ajmg.a.36018. ISSN 1552-4825.
- ↑ 12.0 12.1 Scully RE (1970). "Gonadoblastoma. A review of 74 cases". Cancer. 25 (6): 1340–56. PMID 4193741.
- ↑ Cools, Martine; Stoop, Hans; Kersemaekers, Anne-Marie F.; Drop, Stenvert L. S.; Wolffenbuttel, Katja P.; Bourguignon, Jean-Pierre; Slowikowska-Hilczer, Jolanta; Kula, Krzysztof; Faradz, Sultana M. H.; Oosterhuis, J. Wolter; Looijenga, Leendert H. J. (2006). "Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads". The Journal of Clinical Endocrinology & Metabolism. 91 (6): 2404–2413. doi:10.1210/jc.2005-2554. ISSN 0021-972X.
- ↑ Ulbright, Thomas M.; Young, Robert H. (2014). "Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development". Seminars in Diagnostic Pathology. 31 (5): 427–440. doi:10.1053/j.semdp.2014.07.001. ISSN 0740-2570.
- ↑ Kao, Chia-Sui; Idrees, Muhammad T.; Young, Robert H.; Ulbright, Thomas M. (2016). ""Dissecting Gonadoblastoma" of Scully". The American Journal of Surgical Pathology. 40 (10): 1417–1423. doi:10.1097/PAS.0000000000000704. ISSN 0147-5185.
- ↑ Sperling, M (2014). Pediatric endocrinology. Philadelphia, PA: Elsevier/Saunders. ISBN 978-1-4557-4858-7.
- ↑ Kao, Chia-Sui; Ulbright, Thomas M; Idrees, Muhammad T (2014). "Gonadoblastoma: an immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications". Histopathology. 65 (6): 861–867. doi:10.1111/his.12444. ISSN 0309-0167.
- ↑ Gru, Alejandro A.; Williams, Eli S.; Cao, Dengfeng (2017). "Mixed Gonadal Germ Cell Tumor Composed of a Spermatocytic Tumor-Like Component and Germinoma Arising in Gonadoblastoma in a Phenotypic Woman With a 46, XX Peripheral Karyotype". The American Journal of Surgical Pathology. 41 (9): 1290–1297. doi:10.1097/PAS.0000000000000888. ISSN 0147-5185.