Department of Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shenyang Road 128, Shanghai, 200090, China.
Department of Pathology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, 200090, China.
Diagn Pathol. 2023 Oct 31;18(1):118. doi: 10.1186/s13000-023-01406-9.
Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS.
A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.
结节性基底细胞癌综合征（NBCCS，Gorlin 综合征）是一种罕见的常染色体显性遗传性疾病，其特征为多系统疾病，如基底细胞癌、角化囊肿性牙源性肿瘤和骨骼异常。已诊断为 NBCCS 的个体中已报告存在双侧和/或单侧卵巢纤维瘤。
一名 22 岁女性，因腰痛就诊，盆腔超声检查发现双侧巨大附件肿块，疑似恶性卵巢肿瘤。正电子发射断层扫描/计算机断层扫描显示颅内多处钙化和骨骼异常。行剖腹探查术切除左侧附件和右侧卵巢肿瘤，病理显示双侧卵巢纤维瘤伴明显钙化。我们建议患者接受基因检测和皮肤科检查。未发现皮肤病变。种系检测发现 PTCH1（Patched1）的致病性杂合突变。
对于早期诊断的卵巢纤维瘤患者，需要考虑 NBCCS 的可能性。皮肤病变不是 NBCCS 诊断所必需的。卵巢纤维瘤采用手术切除，尽量保留卵巢功能。应向患者提供随访方案和未来生育选择的咨询。
