Ovary

• Overall rare tumor (accounting for < 1% of all sex cord tumors)
• Syndromic: associated with germline STK11 mutations on chromosome 19p13.3 (Peutz-Jeghers syndrome), incidental finding
• Nonsyndromic: mean age at presentation is 36 years of age (range: 6 - 76 years)
• References: Cancer 1982;50:1384, Crum: Diagnostic Gynecologic and Obstetric Pathology, 3rd Edition, 2017

• Ultrasound imaging (Pediatr Radiol 2007;37:1270)
  • Multiple small, lobulated, discrete high echogenicity masses or tumorlets
  • Occasionally may have calcifications

• Syndrome associated tumors are typically benign
• Nonsyndromic / sporadic cases may exhibit extraovarian spread in ~20% of patients
• Malignant potential of SCTAT cannot be reliably assessed on histologic evaluation as high risk features such as mitotic rate, lymphovascular invasion or ovarian surface involvement are not consistently associated with poor outcomes (Crum: Diagnostic Gynecologic and Obstetric Pathology, 3rd Edition, 2017)
• Malignant SCTAT may have early or late recurrences decades after initial presentation (Crum: Diagnostic Gynecologic and Obstetric Pathology, 3rd Edition, 2017)
• Sites of metastasis include pelvic peritoneum, retroperitoneum and lung (Crum: Diagnostic Gynecologic and Obstetric Pathology, 3rd Edition, 2017)

• Nonsyndromic tumors
  • Unilateral masses ranging in size from several millimeters to 3 cm
  • Solid, tan to yellow
  • Cysts may be seen and occasionally may predominate (Pathology 2018;50:5)
• Syndromic tumors
  • Bilateral and multifocal lesions
  • Often microscopic; may not be grossly visible
  • Gritty texture may be noted if there is a mass

AFIP images

Contributed by Krisztina Lengyel, M.D. and AFIP

• Right ovary, oophorectomy:
  • Sex cord tumor with annular tubules (SCTAT), single 9 mm focus (see comment)
  • Comment: This neoplasm is an incidental finding. There is no mitotic activity, cytologic atypia, lymphovascular invasion or ovarian surface involvement noted.

• Ovaries and fallopian tubes, bilateral salpingo-oophorectomy:
  • Ovaries: bilateral multifocal sex cord tumor with annular tubules (SCTAT), ranging in size from 1.2 mm to 28 mm (see comment)
  • Fallopian tubes: benign fimbriated, histologically unremarkable
  • Comment: Given the presence of bilateral ovarian involvement and multifocal disease, a possibility of Peutz-Jeghers syndrome associated SCTAT should be considered and excluded. Germline testing for STK11 mutation is recommended.

A 47 year old woman with mucocutaneous oral pigmentations and a history of prior gastrointestinal (GI) polyp resections (multiple hamartomatous polyps) presents for a total abdominal hysterectomy with bilateral salpingo-oophorectomy for menorrhagia. Patient's hysterectomy specimen has no significant histopathologic abnormalities, however, lesion is found in bilateral ovaries. The ovaries were grossly unremarkable. The patient harbors a germline mutation in which of the following genes?

1. DICER1
2. MMR deficiency
3. PTEN
4. STK11

D. STK11. The patient has characteristic findings and history of Peutz-Jeghers syndrome. This includes mucocutaneous pigmentation, previous hamartomatous gastrointestinal (GI) polyps. The incidental ovarian findings resemble sex cord tumor with annular tubules (SCTAT). This entity is frequently associated with Peutz-Jeghers syndrome and is often an incidental finding. They are grossly unremarkable and usually involve bilateral ovaries.

Answer A is not correct as DICER1 is associated with Sertoli-Leydig cell tumor, sarcoma and gynandroblastoma, as well as other nongynecologic tumors. Answer B is incorrect because MMR loss is associated with Lynch syndrome. Lynch syndrome predisposes to endometrioid endometrial adenocarcinoma, gastric and intestinal cancers to name a few. Answer C is incorrect because PTEN gene mutations are part of Cowden syndrome, which is associated with high prevalance of thyroid, breast and endometrial neoplasias.

Comment Here

Reference: Sex cord tumor with annular tubules