A report describes the rare case of a woman with Bardet-Biedl syndrome (BBS), endometrial cancer, signs of excess estrogen, and who underwent removal of her uterus and fallopian tubes.
The case report, “Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome,” was published in the journal Case Reports in Obstetrics and Gynecology.
BBS is a rare genetic disorder characterized by central (abdominal) obesity, cognitive impairment, development delay, heart disease, and diabetes, among other symptoms.
The team described the case of a 26-year-old Hispanic woman with BBS, who arrived at the emergency room with clinical signs of hyperestrogenism — excess estrogen levels — and abnormal uterine bleeding.
The patient was evaluated for heavy vaginal bleeding and dizziness at the ER and found to have profound anemia. One week prior, she had started taking Premarin (conjugated estrogen, by Pfizer) after going to the emergency room with the same symptoms.
Her gynecological history included the first menstrual cycle at age 13, followed by regular periods until two years before seeking help.
Besides BBS, the woman’s medical history included morbid obesity, severe persistent asthma, congenital absence of one kidney, obstructive sleep apnea, and scoliosis (sideways curvature of the spine). In addition, her sister’s medical history was notable for deep vein thrombosis.
In the emergency room, a physical exam revealed morbid obesity, and a blood clot at cervical os (the opening of the uterus).
The woman’s pelvis was then evaluated with transvaginal ultrasound, revealing a thickened, mildly heterogeneous endometrium (the inner lining of the uterus) with increased concentration of blood vessels suggestive of a polyp. Her right ovary appeared normal, while the left was not seen. She was admitted to gynecology services for further management.
Due to her anemia, the patient was transfused two units of packed red blood cells. Depo-Provera (medroxyprogesterone injection) was given to stabilize her endometrium, and she started on medroxyprogesterone 20 mg orally every eight hours for quick control of her bleeding.
Further exams revealed a hypertrophic (enlarged), vascular-appearing endometrium with a presumed endometrial polyp. She was then discharged home on oral medroxyprogesterone and close follow-up.
Analysis of an endometrial sampling found a FIGO grade 1 (cancer located only in the uterus or womb), nuclear grade 1 — an evaluation of size and shape of the nucleus in tumor cells — endometrioid adenocarcinoma (the most common type of endometrial cancer) with squamous metaplasia, which refers to a benign non-cancerous change of the epithelium.
Pelvic and abdominal magnetic resonance imaging (MRI) revealed less than 50 percent invasion into the myometrium — the middle layer of the uterine wall — and no apparent extra uterine disease.
The patient underwent robotic-assisted total laparoscopic hysterectomy (uterus removal) and bilateral salpingectomy (removal of fallopian tubes) with ovarian preservation and bilateral pelvic lymph node dissection and biopsy. She was discharged and sent home the day after surgery.
Her final tumor assessment found a FIGO grade 2 (spread from the uterus to the cervical stroma, containing smooth muscle and fibrous tissues), nuclear grade 2, endometrioid adenocarcinoma (cancer) with squamous cell differentiation. The patient’s endometrium also demonstrated atypical hyperplasia (enlargement).
The final TNM cancer staging was pT1aN0: “T1a” refers to tumor size and/or extent in a scale of 1 (smaller) to 4 (larger); “N0” means no cancer in lymph nodes — FIGO stage IA — cancer only in the endometrium or in less than one-half of the myometrium.
As of the study’s completion, the patient was recovering well from the surgery.
“This is one of only a few reports in the literature describing the association of BBS and endometrioid endometrial adenocarcinoma,” the researchers wrote. They added that “it is unclear if obesity and resulting hyperestrogenism by itself has been a major risk factor in this patient, or if [BBS] may play a separate role predisposing for endometrial cancer. This question needs to be studied further.”
The team emphasized that “because women with BBS suffer from other medical conditions that predispose them to hyperestrogenism and endometrial hyperplasia, [healthcare] providers should have increased suspicion for endometrial cancer in women with BBS and abnormal uterine bleeding.”