Gonadoblastoma

Risk factors

Gonadoblastoma is most often associated with an abnormal chromosomal karyotype, gonadal dysgenesis, or the presence of a Y chromosome in over 90% of cases. Gonadoblastoma has been found in association with androgen insensitivity syndrome, mixed gonadal dysgenesis and Turner syndrome, especially in the presence of Y chromosome-bearing cells. Women with Turner syndrome whose karyotype includes a Y chromosome (as in 45,X/46,XY mosaicism) are at increased risk for gonadoblastoma. Because of the risk of gonadoblastoma, individuals with Turner syndrome with detectable Y chromosome material (Mosaic Turner syndrome) should have their gonads prophylactically removed. In a population-based study, the cumulative risk for women with Turner syndrome and Y chromosome material was 7.9 percent by age 25 years.

Diagnosis

Classification

Main article: Germ cell tumor

Gonadoblastomas can contain elements of both germ cells and gonadal stroma.

Formerly, gonadoblastoma was sometimes regarded as a subset of dysgerminoma. In modern literature, it is sometimes considered to progress to dysgerminoma.

Treatment

Standard treatment would include surgical exploration via laparotomy. Laparoscopy may be an option if the surgeon is particularly skilled in removing ovarian neoplasms via laparoscopy intact. If the diagnosis of gonadoblastoma is certain, a bilateral salpingo-oophorectomy (BSO) should be performed to remove both the primary tumor and the dysgenic contralateral ovary. If uninvolved, the uterus should be left intact. Modern reproductive endocrinology technology allows patients post BSO to achieve pregnancy via in-vitro fertilization (IVF) with a donor egg.

References

References

1. (June 2006). "Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads". The Journal of Clinical Endocrinology and Metabolism.
2. (2 July 2014). "Gonadoblastoma". PathologyOutlines.com.
3. (August 2007). "Polycystic ovary and gonadoblastoma in Turner's syndrome". Minerva Pediatrica.
4. (September 2006). "Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma". Journal of Pediatric Endocrinology & Metabolism.
5. (March 2008). "Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study.". The Lancet Oncology.
6. (2009). "Robbins & Cotran Pathologic Basis of Disease". Saunders.
7. (April 2007). "Gonadoblastoma progressing to dysgerminoma in a 55-year-old woman with normal karyotype". Pathology.