Wallach's Interpretation of Diagnostic Tests: Pathways to Arriving at a Clinical Diagnosis (264 page)

Ovarian sex cord-stromal neoplasms are benign or malignant tumors that arise from the cells supporting the oocytes, including ovarian hormone–producing cells. These are rare tumors comprising <2% of all ovarian cancers. These include fibromas, thecomas, granulosa cell tumors, Sertoli or Sertoli–Leydig cell tumors, and gynandroblastoma.

   Clinical Presentation

Patients with sex cord tumors present with abdominal distention, bloating, pain or pelvic symptoms, and a finding of adnexal mass on imaging. They also may exhibit hormonal manifestations including signs of estrogen excess (precocious puberty, abnormal uterine bleeding) or androgen excess (virilization). The risk for sex cord tumors may be decreased in current or past smokers, in women who have taken oral contraceptive pills, and in multiparous women.

   Laboratory Findings

The diagnosis of sex cord-stromal tumor is made on tissue evaluation at the time of surgery (see eBook Figure 8-11). For any suspected ovarian malignancy, a complete oophorectomy must be performed to prevent potential spread of neoplastic cells. Presumptive diagnosis may be made in a patient with hormonal changes, an adnexal mass on imaging (transpelvic ultrasound), or bimanual exam and elevation of an associated tumor marker. These include the following:

   
AFP
is seen in embryonal carcinoma and polyembryoma and may be seen in immature teratoma, endodermal sinus tumors, mixed germ cell tumors, and Sertoli–Leydig cell tumors.

   
hCG
is seen in embryonal carcinoma, choriocarcinoma, and polyembryoma and may be seen in mixed germ cell tumors and dysgerminoma.

   
LDH
is seen in dysgerminoma and endodermal sinus tumors and may be seen in embryonal carcinoma, choriocarcinoma, immature teratoma, and mixed germ cell tumors.

   
Inhibin
is seen in granulosa cell tumors where both inhibin A and inhibin B should be ordered, and it may be seen in Sertoli–Leydig cell tumors and gonadoblastoma.

   
Estradiol
may be seen in granulosa cell tumors, Sertoli–Leydig cell tumors, gynandroblastoma, immature teratoma, embryonal carcinoma, and dysgerminoma.

   
Testosterone
is elevated when virilization is present in Sertoli–Leydig cell tumors and may also be seen in granulosa cell tumors and gynandroblastoma.

   
Androstenedione
may be seen in gynandroblastoma and Sertoli–Leydig cell tumors.

   
DHEA
may be seen in immature teratoma, gonadoblastoma, and Sertoli– Leydig cell tumors.

   
Müllerian inhibiting substance (MIS)
appears to be a more specific tumor marker for granulosa cell tumors but is not yet available for clinical use.

   
Genetic testing
is not helpful at this time. Sex cord-stromal neoplasms have no known association with BRCA1 or BRCA2. Studies have shown a somatic mutation in
FOXL2
, a gene that encodes a transcription factor, may be associated with granulosa cell tumors, and somatic mutations affecting the RNase IIIb domain of
DICER1
may be associated with Sertoli–Leydig cell tumors.