Ovarian Sertoli-Leydig Cell Tumor, Endometrioid-Like Yolk Sac Tumor, and Y-Chromosomal Material

Abstract

Sertoli-Leydig cell tumors (SLCTs) are rare neoplasms, accounting for less than 0.2% of ovarian tumors. The endometrioid-like variant of yolk sac tumor (YST) is very rare, and the most extensive series reported only 8 cases. We present a case of ovarian SLCT with endometrioid-like YST in a patient with a 46,XX karyotype with Y-chromosomal material. A 26-year-old woman had undergone a right salpingo-oophorectomy for SLCT with endometrioid-like YST. Chromosomal analysis revealed a 46,XX karyotype with Y-chromosomal material insertion into chromosome 1. The patient’s father and sister, and 7 other paternal relatives (4 male and 3 female) presented the same chromosome variant without evidence of cancer. The YST component relapsed to the right side of the uterine wall and then metastasized to the peritoneum and liver, while SLCT was eradicated with primary surgery. Several chemotherapeutic regimens were totally ineffective to control tumor progression. She died of disease progression 54 months after the diagnosis. We adopted the policy of a close surveillance for ovarian neoplasms for the 22-year-old sister of the patient, who presented the same Y-chromosomal material in her karyotype. In very rare tumors, new methods, based on molecular and cytogenetic models, are requested to define recommended management.

Sertoli‐Leydig cell tumor ‐ a rare androgen secreting ovarian tumor in postmenopausal women: case report and review of literature

“…There is a possible association of SLCT with sex chromosome abnormalities; it was report one case of SLCT with X chromosome mosaicism (45X/46XX/47XXX) [12] and one case of female karyotype with Y-chromosomal material insertion into chromosome 1 in an ovarian SertoliLeydig cell tumor with endometrioid-like yolk sac tumor [13]. In our case the chromosomal analysis revealed a 46,XX karyotype.…”

Sertoli–Leydig cell tumours of the ovary and testis: a CGH and FISH study

“…The FISH analysis confirmed this, showing three to four signals for 22q11.2 in 30% of the analysed nuclei (Table 2). De Giorgi et al [1] presented a case of ovarian SLCT with endometrioid-like yolk sac tumour in a 26-year-old patient with a 46,XX karyotype with Y-chromosomal material insertion into chromosome 1. A well-differentiated SLCT of the ovary in a 48-old-year Japanese woman with symptoms of virilisation and a 45,X/46XX/47XXX karyotype is reported by Hitosugi et al [3].…”

“…There are, however, some few cytogenetic studies of SLCT of the ovary, which revealed genetic aberrations affecting the sex chromosome [1,3,4]. Trisomy 8 was detected in a metastasizing ovarian SLCT as sole karyotypic aberration [7].…”

Review on Sertoli-Leydig Cell Tumours of the Ovary

“…Cytogenetic studies of ovarian SLCTs revealed karyotypic abnormalities affecting the sex chromosomes, including a case with X-chromosome mosaicism [35] and another case of a 46,XX karyotype with insertion of Ychromosomal material into chromosome 1 [36]. Another cytogenic study of a metastasizing SLCT identified trisomy 8 as the only karyotypic abnormality [37].…”