Department of Pediatrics, Hematology, Oncology and Endocrinology, Medical University, Gdansk, Poland.
Pediatr Blood Cancer. 2011 Mar;56(3):482-3. doi: 10.1002/pbc.22675. Epub 2010 Nov 15.
Swyer syndrome is characterized by a higher risk of developing genital malignancies. In this disorder, the most common is gonadoblastoma and dysgerminoma but also, in rare cases, choriocarcinoma. The prognosis in choriocarcinoma is poor. The early diagnosis of dysgenetic gonads is necessary in view of the risk of malignancies. It can be difficult due to its different clinical masks. When the neoplasm precedes the diagnosis of gonadal dysgenesis, adequate oncological treatment should be introduced with parallel gonadectomy. We present a case of 14-year-old female with 46, XY karyotype with choriocarcinoma in one gonad and dysgerminoma in the second one.
斯威耶综合征的特征是生殖系统恶性肿瘤的风险较高。在这种疾病中,最常见的是性腺母细胞瘤和胚胎瘤,但也有罕见情况下发生绒毛膜癌。绒毛膜癌的预后较差。鉴于恶性肿瘤的风险,需要早期诊断发育不良的性腺。由于其不同的临床表现,这可能具有一定难度。当肿瘤先于性腺发育不良的诊断时,应引入适当的肿瘤治疗,并同时进行性腺切除术。我们报告了一例 14 岁的女性患者,其核型为 46, XY,一侧性腺为绒毛膜癌,另一侧为胚胎瘤。