Coexistence of a Choriocarcinoma and a Gonadoblastoma in the Gonad of a 46,XY Female: A Single Nucleotide Polymorphism Array Analysis

Abstract

Females with 46,XY complete gonadal dysgenesis are at significant risk of developing germ cell tumors, mostly gonadoblastomas. We present here the case of 2 halfsisters, sharing the same father, diagnosed with 46,XY complete gonadal dysgenesis. The 1st sister developed a gonadoblastoma and an invasive dysgerminoma, whereas the 2nd sister developed a gonadoblastoma and an invasive choriocarcinoma within the same gonad. No SRY mutation, chromosome abnormalities, or mosaicism were detected in blood. Single nucleotide polymorphism (SNP) profiling of the choriocarcinoma revealed a complex hyperdiploid pattern with gains of 1 to 4 copies of material from several autosomes, as well as the loss of the Y chromosome and a homozygous SNP profile without copy number change for the X chromosome. Our results are in agreement with the recurrent chromosome gains and losses previously published in germ cell tumors, and the coexistence of both tumors within the same gonad suggests that choriocarcinomas may derive from gonadoblastomas.

Genome-Wide High-Resolution aCGH Analysis of Gestational Choriocarcinomas

“…These rearrangements were identified as MCRs in the present work (table 3) with deep losses of 18q, Xp and gains of 5p and 20q. They were not observed in a choriocarcinoma derived from a Non Seminomatous type II Germ Cell Tumor originating in a case of 46,XY gonadal dysgenesis [71]. The presence of a Y chromosome in BeWo JAR JEG cell lines, the derivations of a choriocarcinoma cell line from two XY patients compare to one from a female [17], may reflect a a proliferative advantage for cell lines establisment as the predisposition to malignant transformation in gonadal dysgenesis induced by the Y chromosome [71].…”

Metachronous Synovial Sarcoma After Treatment of Mixed Germ Cell Tumor in a Child with Complete Gonadal Dysgenesis

“…Cases of co-occurrence of gonadoblastoma with dysgerminoma and gonadoblastoma with choriocarcinoma have also been reported ( 12 ). It is assumed that gonadoblastomas are unstable and may result in choriocarcinoma ( 14 ). Our patient had a pure gonadoblastoma in her right ovary and dysgerminoma, embryonal carcinoma and gonadoblastoma on the left side.…”

Novel mutation of the sex‐determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: A case report

“…Patients with gonadal dysgenesis present a 30% risk of developing germ cell tumors (GCT) and seminomatous type II GCT dysgerminomas are by far the most frequent (50%). Non‐seminomatous type II GCT, such as embryonal carcinomas, yolk sac tumors, and choriocarcinomas can occur in up to 8% of cases 3 …”

“…Non-seminomatous type II GCT, such as embryonal carcinomas, yolk sac tumors, and choriocarcinomas can occur in up to 8% of cases. 3 In complete gonadal dysgenesis patients, during early embryonic development, initially immature bi-potential gonads fail to differentiate along the male pathway. Pivotal to this process is the SRY gene, which is responsible in 10-15% of cases.…”