Our patient was a Caucasian woman, 22 years of age and born by Cesarean section following an unremarkable gestation. She was described as having normal development and unremarkable schooling. Our patient had a history of recurrent dental infections and had multiple odontogenic keratocysts removed at ages 7, 13 and 20 from her maxilla and mandible (Figure 1A,C,D). At age 13, our patient was admitted to hospital for suspected viral meningitis. During this admission, a computed tomography scan of our patient’s head revealed calcification of her cerebral falx (Figure 1B). She required corrective lenses as a child and was diagnosed with a right optic nerve coloboma at the age of 13 years.
A diagnosis of Gorlin syndrome was initially suggested in 2009 when our patient was 20 years old, following the third excision of odontogenic keratocysts. At that time, investigations were also made for our patient’s irregular menses, with a pelvic ultrasound. The investigation revealed a 10 cm complex mass in the midline pelvis, suspected to be arising from the right adnexa (Figure 1F). The features of the mass were unclear and suggestive of ovarian neoplasm. An urgent computed tomography scan with intravenous contrast was performed, which demonstrated a multiloculated complex mass measuring 10.4 cm in largest dimension that represented either unilateral or bilateral ovarian masses (Figure 1E). There were solid and cystic areas with calcifications. The differential diagnosis at this point included a teratoma, other ovarian malignancies and chronic recurrent partial ovarian torsion. Our patient was scheduled for a right salpingo-oophorectomy with possible conversion to a bilateral salpingo-oophorectomy if there was intraoperative suspicion of malignancy. Given that she was nulliparous and desired to have children in the future, our patient was offered egg retrieval and embryo cryopreservation if the surgery was bilateral. Our patient underwent a successful right salpingo-oophorectomy with an intraoperative note of a 1 cm simple cyst of the left ovary and a Meckel’s diverticulum.
The gross specimen received from the right salpingo-oophorectomy consisted of a 12 × 10.5 × 7 cm cystic mass with a partial solid component measuring 4.5 × 4 × 3 cm (Figure 2A). An attached fallopian tube was identified measuring 7 × 0.7 × 0.6 cm. The cut surface of the cystic component of the mass revealed a diffuse gelatinous appearance. Approximately 10 mL of pale straw-colored fluid was extruded. The cut surface of the firm component revealed a partly solid white-tan whorled appearance with surrounding areas of suspected normal ovarian parenchyma.
On microscopic examination, the specimen demonstrated compressed ovarian tissue with secondary edema, follicular cysts and corpora lutea. The lesion was well-circumscribed with a variably cellular spindle cell proliferation arranged in intersecting bundles with abundant myxoid stroma. Areas of cystic degeneration and calcification were present. There was no cellular atypia and the mitotic rate did not exceed three per 10 high power fields (Figure 2B-D). Immunohistochemical staining was performed using an automated immunostainer (Ventana Benchmark XT, Ventana Medical Systems Inc., Tuscon, AZ, USA). Antibodies against smooth muscle actin (1A4, prediluted; Cell Marque, Rocklin, CA, USA), desmin (DE-R-11, prediluted; Ventana Medical Systems Inc.), vimentin (V9, prediluted; Ventana Medical Systems Inc.), calretinin (polyclonal, prediluted; Cell Marque), and inhibin (R1, 1:50; Dako North America Inc, Carpinteria, CA, USA) were used. Immunohistochemical staining of the lesion showed positivity for vimentin and smooth muscle actin, and negativity for inhibin, calretinin and desmin (Figure 2E,F).