MRKH综合征合并卵巢恶性肿瘤一例

doi:10.12280/gjszjk.20230454

摘要/Abstract

摘要：

MRKH综合征（Mayer-Rokitansky-Küster-Hauser syndrome）是一种较为罕见的先天性女性生殖器官发育障碍综合征，以无阴道及子宫发育不全为特征。该病患者具有发生盆腔合并症的风险，但由于其发病率低，治疗上缺乏经验总结，容易发生误诊漏诊。报告1例MRKH综合征合并巨大卵巢浆液性乳头状癌病例的诊治情况。该类患者通常拥有正常的卵巢结构，妇科医生应当警惕卵巢病变的风险，术前配合磁共振成像检查可提高诊断敏感性，通过腹腔镜手术可更清晰地明确盆腔情况同时降低手术损伤；年轻的卵巢癌患者可考虑保留健侧卵巢以保证内源性激素，而残基子宫则建议切除以降低病变风险。该例患者术后肝功能明显异常，最终予诺雷得抑制卵巢功能以择期启动化疗；卵巢癌化疗方案仍适用于该类患者且随访疗效满意。通过结合文献分析，旨在提高妇科医生对MRKH综合征患者盆腔合并症的认识和警觉。

关键词: MRKH综合征, 卵巢肿瘤, 先天畸形, 诊断, 治疗, 病例报告

Abstract:

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder of female reproductive development, resulting in vaginal aplasia and uterine hypoplasia. Patients with MRKH syndrome are at the risk of pelvic complications. Due to the low incidence and limited treatment experience, MRKH syndrome is prone to be misdiagnosed. A case of MRKH syndrome complicated with giant ovarian plasma papillary carcinoma was presented. The patient with MRKH syndrome usually has normal structure of ovary, that is why gynecologists should be more alerted to the risk of ovarian pathology. Preoperative MRI can improve the diagnostic sensitivity, and laparoscopic surgery can clarify the pelvis and reduce surgical injuries. In young patients with ovarian cancer, preservation of the healthy ovary can be considered to ensure endogenous hormones, while resection of the stumpy uterus can be recommended to reduce the risk of lesions. In this case, the liver function after operation was obviously abnormal, and noladex was finally given to inhibit the ovarian function in order to initiate chemotherapy at an elective stage. The chemotherapy regimen for ovarian cancer should be still applicable and the follow-up results be satisfactory in this case. This case report with literature review will increase the awareness and alertness of gynecologists to pelvic comorbidities in patients with MRKH syndrome.

Key words: MRKH syndrome, Ovarian neoplasms, Congenital abnormalities, Diagnosis, Therapy, Case reports

区晓榆, 曾宇华, 陈燕芬, 谢琳玲, 曾蕾, 卢如玲. MRKH综合征合并卵巢恶性肿瘤一例[J]. 国际生殖健康/计划生育杂志, 2024, 43(2): 121-126.

OU Xiao-yu, ZENG Yu-hua, CHEN Yan-fen, XIE Lin-ling, ZENG Lei, LU Ru-ling. A Case Report of MRKH Syndrome Complicated with Ovarian Malignant Tumor[J]. Journal of International Reproductive Health/Family Planning, 2024, 43(2): 121-126.

图/表 8

图1 术前MRI图注：MRI示右下腹-盆腔巨大囊性包块，约17.6 cm×11.7 cm×8.1 cm，呈长T2长T1信号，内见分隔。图A为矢状位，见巨大囊性包块呈多房分隔改变，未见阴道子宫结构；图B为轴位T1加权成像，呈长T1信号，图C为轴位T2加权成像，呈长T2信号。

图2 右侧卵巢及表面肿物肉眼所见

图3 右侧卵巢及表面肿物病理图（HE染色×100）注：镜下见卵巢囊肿大部分区域内衬单层上皮，局部上皮明显异型增生呈不规则腺样及乳头状结构，并间质浸润。标尺=10 μm。

图4 右侧附件囊肿病理图（HE染色×100）注：镜下见囊肿壁衬覆立方或扁平上皮，细胞未见异型。标尺=10 μm。

图5 右侧子宫、右侧附件及大网膜送检物肉眼所见注：病理科收到标本后制作石蜡病理前拍照存底图，从取出标本到病理制作存在一定时间差，考虑为福尔马林浸泡后标本颜色变暗变深。箭头所示为始基子宫右外侧。

表1 相关抗原指标

相关抗原	检测时间
相关抗原	2023-02-10（初诊）	2023-03-13	2023-05-07	2023-05-31	2023-06-24	2023-07-13
癌胚抗原（CEA）（ng/mL）	3.50	-	3.66	3.67	4.79	3.88
甲胎蛋白（AFP）（ng/mL）	2.20	-	2.44	3.11	3.92	3.05
糖类抗原125（CA125）（U/mL）	22.44	44.57	13.24	11.90	13.49	13.05
糖类抗原19-9（CA19-9）（U/mL）	0.87	0.80	<0.60	<0.60	<0.60	<0.60
糖类抗原15-3（CA15-3）（U/mL）	4.55	6.16	4.65	5.06	5.93	5.55
人附睾蛋白4（HE4）（pmol/L）	36.43	30.72	40.19	34.67	33.47	36.94

图6 术后MRI图注：子宫及右侧卵巢术后缺如，增强术区未见异常强化影。

图7 术后子宫附件彩色超声图

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