Uropathology

2020 Edition
| Editors: Maria Rosaria Raspollini, Antonio Lopez-Beltran

Gonadoblastoma

  • Caterina Fattorini
  • Antonio Lopez-Beltran
  • Maria Rosaria RaspolliniEmail author
Reference work entry
DOI: https://doi.org/10.1007/978-3-030-41894-6_4819
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Synonyms

Gonadoblastoma; Mixed germ cell; Sex cord; Stromal tumor

Definition

Neoplasm resembling normal developing gonad (hence the name) composed of germ cell type and sex cord cells similar to immature granulosa cells.

Clinical Features

  • Incidence

    Very rare neoplasia.

  • Age

    1st–2nd decade of life.

  • Sex

    Male individuals.

  • Site

    Descended or undescended testis.

  • Etiology

    It frequently occurs in patients with DSD (Disorders of Sex Development) such as Turner Syndrome, Swyer Syndrome, and Complete Androgen Insensitivity Syndrome. All these disorders have in common a mutation in one or multiple genes implicated in normal development of gonads, such as WT1, SOX9, SF1, DHH, ARX, and TSPY. These mutations lead to altered maturation of both sex cord cells component and germ cells component: the former resemble granulosa cells instead of normal Sertoli cells while the latter are prone to neoplastic transformation toward GCNIS-like cells (Ulbright and Young 2014).

  • Treatment

    Surgical excision of the...

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References and Further Reading

  1. Kao, C.-S., Ulbright, T. M., & Idrees, M. T. (2014). Gonadoblastoma: An immunohistochemical study and comparison to Sertoli cell nodule with intratubular germ cell neoplasia, with pathogenetic implications. Histopathology, 65, 861–867.CrossRefGoogle Scholar
  2. Kersemaekers, A.-M. F., Stoop, H., Oosterhuis, J. W., et al. (2006). Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. The Journal of Clinical Endocrinology & Metabolism., 91, 2404–2413.CrossRefGoogle Scholar
  3. Scully, R. E. (1970). Gonadoblastoma. A review of 74 cases. Cancer, 25, 1340–1356.CrossRefGoogle Scholar
  4. Ulbright, T. M., & Young, R. H. (2014). Gonadoblastoma and selected other aspects of gonadal pathology in young patients with disorders of sex development. Seminars in Diagnostic Pathology, 31, 427–440.CrossRefGoogle Scholar
  5. Ye, H., & Ulbright, T. M. (2012). Difficult differential diagnoses in testicular pathology. Archives of Pathology & Laboratory Medicine, 136, 435–446.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Caterina Fattorini
    • 1
  • Antonio Lopez-Beltran
    • 2
    • 3
  • Maria Rosaria Raspollini
    • 1
    Email author
  1. 1.Histopathology and Molecular DiagnosticsUniversity Hospital CareggiFlorenceItaly
  2. 2.Pathology ServiceChampalimaud Clinical CenterLisbonPortugal
  3. 3.Unit of Anatomic Pathology, Department of SurgeryCordoba University Medical SchoolCordobaSpain