Department of Obstetrics and Gynecology, Kindai University Faculty of Medicine, 377-2 Ohno-higashi, Osaka-sayama, Osaka, 589-8511, Japan.
BMC Womens Health. 2021 Mar 21;21(1):118. doi: 10.1186/s12905-021-01269-6.
Extragonadal endometriosis is a rare condition, and its disease manifestation and long-term prognosis have not been elucidated. We report an extragonadal endometriosis case controlled by drug therapy for 14 years with analysis of the sex hormone receptor expression and PIK3CA mutation.
The patient was diagnosed with bladder endometriosis at age of 30 years, and underwent bilateral nephrostomy and GnRHa therapy with add-back therapy. The patient was switched to dienogest therapy at age 35 and had hematuria and bloody stools at age 38. PET-CT revealed a 6-cm mass in the bladder with fluorodeoxyglucose accumulation and the diagnosis of endometriosis in the bladder, sigmoid colon, and cecum was confirmed after the biopsy result. The lesion's tubular structures were positive for the estrogen receptor, but only 30% positive for the progesterone receptor, and the H1047R mutation in PIK3CA was found in tubular structures of the bladder lesion. GnRHa therapy caused the tumors to shrink.
Decreased progesterone receptor expression and oncogenic mutations may influence the course of less common and rare site endometriosis. Rare site endometriosis often requires long-term hormone therapy, and management should be tailored to the patient's life stage, keeping in mind complications, such as decreased bone density.
卵巢外子宫内膜异位症是一种罕见的疾病，其临床表现和长期预后尚未阐明。我们报告了一例卵巢外子宫内膜异位症病例，该病例通过药物治疗控制了 14 年，并对性激素受体表达和 PIK3CA 突变进行了分析。
该患者 30 岁时被诊断为膀胱子宫内膜异位症，接受了双侧肾造瘘术和 GnRH 激动剂治疗加用补充治疗。患者 35 岁时改用地诺孕素治疗，38 岁时出现血尿和血便。PET-CT 显示膀胱内有一个 6cm 大小的肿块，氟脱氧葡萄糖积聚，活检结果证实膀胱、乙状结肠和盲肠存在子宫内膜异位症。病变的管状结构对雌激素受体呈阳性，但孕激素受体仅阳性 30%，且膀胱病变的管状结构中存在 PIK3CA 的 H1047R 突变。GnRHa 治疗使肿瘤缩小。
孕激素受体表达降低和致癌突变可能影响少见和罕见部位子宫内膜异位症的病程。罕见部位的子宫内膜异位症通常需要长期激素治疗，应根据患者的生命阶段进行个体化治疗，同时注意如骨密度降低等并发症。
