Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants

Abstract

Gonadoblastoma is an unusual mixed germ cell-sex cord-stromal tumor that has the potential for malignant transformation and 30% of all patients with gonadoblastoma develop germ cell tumors mainly dysgerminoma/ seminoma. An additional 10% gives rise to other malignant germ cell neoplasms. This tumor affects a subset of patients with intersex disorders. The age at diagnosis is variable ranging from birth to the fourth decade, but around 94% of cases are diagnosed during the first three decades of life and there are few cases with gonadoblastoma diagnosed in infants. In this paper, we present the histological and molecular findings of four patients with gonadal dysgenesis who developed gonadoblastoma in the first 2 years of life and one case with bilateral dysgerminoma diagnosed at 15 years of age. The sex chromosomes of mosaic patients do not distribute homogenously in dysgenetic gonads; however, statistical analysis of FISH results revealed significant differences between the XY cell line in the gonadoblastoma compared with the dysgenetic testis. Our cases demonstrate that tumors could be present at a very early age, so the prophylactic removal of the gonads is advised.

Dysgerminoma in a female with turner syndrome and Y chromosome material: A case-based review of literature

“…The male genotype can exist as XY, XYY, a partial Y-chromosome such as dicentric Y, a ring Y or even a Y translocated to another chromosome. [28]…”

“…A few times, the gonadal tumor has been reported without evidence of Y-chromosome. [28] The basis was dysgenetic gonad itself giving rise to GCT. It leads to the suggestion that laparoscopic and ovarian biopsy might be considered in any patient suspected of dysgenetic or dysplastic ovaries.…”

Malignant ovarian germ cell tumours in gonadal Y chromosome mosaicism

“…Meanwhile, phenotypic females with Y chromosome material are at high risk of MOGCT development, which increases with ageing and warrants prophylactic bilateral oophorectomy 6 11 12. Therefore, it is practically important to determine if an MOGCT has evolved in the context of ovarian dysgenesis and Y chromosome presence.…”

Detection of Y Chromosomal Material in Patients with a 45,X Karyotype by PCR Method

“…Hence, it is recommended that the gonads should be removed before hormone treatment (Gibbons et al 1999;Gravholt et al 2000;Mazzanti et al 2005;Pena-Alonso et al 2005;Brant et al 2006).…”