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Journal of Pediatric Urology Oct 2020To describe the rates of GCNIS-free and GCT-free pathology based on age at gonadal surgery and to describe long-term oncologic outcomes in patients with DSD who have...
OBJECTIVE
To describe the rates of GCNIS-free and GCT-free pathology based on age at gonadal surgery and to describe long-term oncologic outcomes in patients with DSD who have GCNIS or GCT at the time of gonadal surgery.
STUDY DESIGN
A systematic review was conducted using MEDLINE to identify patients with DSD who underwent gonadal surgery. DSD diagnoses were stratified based on malignancy risk. GCNIS/GCT and GCT-free survival by age of gonadal surgery, RFS and OS were calculated using the Kaplan-Meier method, with groups compared using log-rank testing.
RESULTS
386 articles from 1951 to 2017 were included (2037 patients). Median age at gonadal surgery was 17 years (y) (IQR 11-20), median follow-up was 60 months (m) (IQR 30-68.1). GCNIS/GCT- and GCT-free survival at the time of gonadal surgery was lowest for those in the high/intermediate risk group (p < 0.001) but decreased sharply around age 15y, regardless of risk category. 5y RFS and OS was similar for those with no GCNIS/GCT and GCNIS and was worse for those with GCT (p < 0.001).
DISCUSSION
When patients undergo gonadal surgery, regardless of indication (i.e. prophylactic vs. tumor), it appears that GCTs are more commonly found when surgery is done around age 15 y or older, despite risk category. This is similar to ovarian and testicular GCTs. Patients with GCNIS can be reassured that long-term oncologic outcomes are excellent. While RFS and OS for GCTs are not as good as for ovarian and testicular GCTs (95%), they are still >80%. This similar trend was found in a COG review of 9 patients with DSD and ovarian GCT. There were several limitations to this study. This is a retrospective analysis that included aa wide time frame of publications. The indication for surgical intervention was not addressed in the majority of publications. Thus these data provide pathologic outcomes based on age at gonadal surgery rather than the age at which GCNIS/GCT develops over a lifetime, if at all.
CONCLUSIONS
The risk of GCNIS or GCT at the time of gonadal surgery appears to increase with age, accelerating between 15 and 20y regardless of risk category. 5y RFS and OS for those with GCNIS is equivalent to those without GCNIS/GCT but is worse for those with GCT. These data may be used when counseling families on timing of gonadal surgery and quantification of outcomes should GCNIS or malignancy be identified.
Topics: Adolescent; Gonads; Humans; Male; Neoplasms, Germ Cell and Embryonal; Retrospective Studies; Sexual Development; Testicular Neoplasms
PubMed: 32564942
DOI: 10.1016/j.jpurol.2020.05.002 -
Clinics (Sao Paulo, Brazil) 2019This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is...
This review describes the germ cell neoplasms that are malignant and most commonly associated with several types of gonadal dysgenesis. The most common neoplasm is gonadoblastoma, while others including dysgerminomas, yolk-sac tumors and teratomas are rare but can occur. The purpose of this review is to evaluate the incidences of these abnormalities and the circumstances surrounding these specific tumors.According to well-established methods, a PubMed systematic review was performed, to obtain relevant studies published in English and select those with the highest-quality data.Initially, the first search was performed using gonadal dysgenesis as the search term, resulting in 12,887 PubMed papers, published, from 1945 to 2017. A second search using ovarian germ cell tumors as the search term resulted in 10,473 papers, published from 1960 to 2017. Another search was performed in Medline, using germ cell neoplasia as the search term, and this search resulted in 7,560 papers that were published between 2003 to 2016, with 245 new papers assessing gonadoblastomas.The higher incidence of germ cell tumors in gonadal dysgenesis is associated with a chromosomal anomaly that leads to the absence of germ cells in these gonads and, consequently, a higher incidence of neoplasms when these tumors are located inside the abdomen. Several hypotheses suggest that increased incidence of germ cell tumors involves all or part of the Y chromosome or different genes.
Topics: Female; Gonadal Dysgenesis; Humans; Incidence; Male; Neoplasms, Germ Cell and Embryonal; Risk Factors
PubMed: 31721911
DOI: 10.6061/clinics/2019/e408