Table 1.
Subject | Age | Repeat Number |
Menstrual History at Time of Surgery |
Reason for Surgery |
Ovarian Pathology (H&E) | Ubiquitin Immunohistochemistry |
---|---|---|---|---|---|---|
Established Fragile X Premutation Carriers | ||||||
Case 1 | 31 | 75 | Postmenopausal since age 20 yrs |
Ovarian cysts |
Follicles and Stroma: Atretic follicles; ovarian stroma present and evaluable. Epithelium: Cortical inclusion cysts. Mucinous cyst. |
Follicles and Stroma: Intranuclear inclusions in stromal cells: up to 3 per 10 high power fields. Non-specific nuclear staining seen in perivascular stromal cells. Epithelium: Non-specific nuclear staining. |
Case 2 | 42 | 100 | 28 day cycle | Adenomyosis |
Follicles and Stroma: Atretic follicles; ovarian stroma present and evaluable. Epithelium: Cortical inclusion cysts. |
Follicles and Stroma: Intranuclear inclusions in stromal cells: up to 20 per 10 high power fields. Epithelium: Minimal to no non-specific staining. |
Case 3 | 39 | 100 | Irregular, infertility, menometrorrhagia worsening with oral contraceptives. |
Menometror- rhagia, pelvic pain (Ovarian biopsy only) |
Follicles and Stroma: No follicles identified; ovarian stroma present and evaluable. Epithelium: Endometriosis. |
Follicles and Stroma: Intranuclear inclusions in stromal cells: more than 50 per 10 high power fields. Non-specific nuclear and cytoplasmic staining seen in ovarian stromal cells. Epithelium: Non-specific nuclear and cytoplasmic staining seen in endometriotic stromal and epithelial cells. |
Case 4 | 72 | 79 | Postmenopausal | Uterine bleeding, and biopsy proven endometrial adenocarcinoma |
Follicles and Stroma: Atretic follicles; fibroma; ovarian stroma present and evaluable. Epithelium: Cortical inclusion cysts. |
Follicles and Stroma: Intranuclear inclusions in stromal cells: more than 50 per 10 high power fields. Non-specific nuclear and cytoplasmic staining seen in ovarian and perivascular stromal cells. Epithelium: Non-specific nuclear staining. |
Case 5 | 44 | 62 | Irregular menses every 3 to 4 months, with 6 months of amenorrhea, infertility and FSH 34 IU/L |
Complex right ovarian cyst and BRCA1 mutation |
Follicles and Stroma: Cystic follicle (functional); ovarian stroma present and evaluable. Epithelium: Cortical inclusion cysts. |
Follicles and Stroma: Intranuclear inclusions in stromal cells: up to 7 per 10 high power fields. Non-specific cytoplasmic staining; granulosa > theca cells. Non-specific nuclear and cytoplasmic staining seen in ovarian and perivascular stromal cells. Epithelium: Non-specific nuclear staining. |
Control Ovarian Tissue | ||||||
Control 1 | 27 | Normal (31, 36) |
Regular 28 days | Ovarian cyst |
Follicles and Stroma: No follicles identified. Ovarian stroma present and evaluable. Epithelium: Mature cystic teratoma (squamous, sebaceous, thyroid, and glial-type tissue present). |
Follicles and Stroma: No intranuclear inclusions in stromal cells. Non-specific nuclear staining seen in ovarian and perivascular stromal cells. Epithelium: Non-specific nuclear and cytoplasmic staining seen in epithelial and ectodermal elements of the mature cystic teratoma. |
Control 2 | 47 | Normal (31, 31) |
Unknown |
Follicles and Stroma: Cystic follicle (functional); ovarian stroma present and evaluable. Epithelium: Cortical inclusion cysts |
Follicles and Stroma: No intranuclear inclucions in stromal cells. Non-specific cytoplasmic staining; granulosa > theca cells. Non-specific nuclear and cytoplasmic staining seen in ovarian and perivascular stromal cells. Epithelium: Minimal non-specific nuclear staining. |
|
Control 3 | 70 | Unknown | Postmenopausal |
Follicles and Stroma: Atretic follicles; ovarian stroma present and evaluable. Epithelium: Cortical inclusion cysts. |
Follicles and Stroma: No intranuclear inclusions in stromal cells. Non-specific nuclear staining seen in ovarian and perivascular stromal cells. Epithelium: Minimal non-specific nuclear staining. |
|
Control 4 | 61 | Unknown | Postmenopausal | Prophylactic oophorectomy for strong family history of breast cancer |
Follicles and Stroma: Atretic follicles; ovarian stroma present and evaluable Epithelium: Ovarian surface and fallopian tube only. |
Follicles and Stroma: Intranuclear inclusions in stromal cells: up to 2 per 10 high power fields. Minimal non-specific staining seen in ovarian stromal cells. Epithelium: Minimal non-specific nuclear and cytoplasmic staining. |
Notes: Field diameter of high power field: 0.63 mm.
The ubiquitin-positive intranuclear inclusions observed measured 3 to 5 micrometers, and could not be seen on H&E sections.