Gonadoblastoma pathophysiology

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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

Genetics

Genes involved in the pathogenesis of gonadoblastoma include:[6]

  • TSPY

Associated Conditions

The following disorders are associated with the development of gonadoblastoma:

Gross Pathology

Microscopic Pathology

Microscopic pathology of gonadoblastoma Source:Wikimedia Commons

Gonadoblastoma is formed from two different types of cells:[13]

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.

Gonadoblastoma may be classified pathologically into three forms:[12][14]

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

  1. Carcangiu, M. L. (2014). WHO Classification of Tumours of Female Reproductive Organs. Lyon: International Agency for Research on Cancer. ISBN 978-9283224358.
  2. 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.
  3. 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.
  4. 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. 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.
  6. 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.
  7. "Yen & Jaffe's Reproductive Endocrinology | ScienceDirect".
  8. "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®".
  9. 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.
  10. 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.
  11. 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. 12.0 12.1 Scully RE (1970). "Gonadoblastoma. A review of 74 cases". Cancer. 25 (6): 1340–56. PMID 4193741.
  13. 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.
  14. 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.
  15. 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.
  16. Sperling, M (2014). Pediatric endocrinology. Philadelphia, PA: Elsevier/Saunders. ISBN 978-1-4557-4858-7.
  17. 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.
  18. 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.

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