原发性DICER1相关宫颈横纹肌肉瘤一例

doi:10.12280/gjfckx.20230702

摘要/Abstract

摘要：

横纹肌肉瘤恶性程度高且较罕见，报告1例17岁因月经淋漓不尽2年就诊的患者，入院后完善盆腔磁共振成像提示宫颈及阴道内占位，行宫颈活检术，快速病理提示恶性肿瘤，后于外院进一步行根治性手术治疗，术后病理及分子检测提示为DICER1相关胚胎型横纹肌肉瘤，术后给予联合放化疗。随访至2023年8月，无临床及影像学复发表现，肿瘤标志物正常。女性生殖道胚胎型横纹肌肉瘤临床症状不典型，其发生与DICER1基因突变关系密切，应根据患者的年龄、肿瘤部位和生育力保护需求，制定个体化的治疗方案，并加强随访监测。

关键词: 宫颈肿瘤, 横纹肌肉瘤, 癌, 胚胎性, 核糖核酸酶Ⅲ, 基因, 突变

Abstract:

Rhabdomyosarcoma has a highly malignancy and rare. A 17-year-old patient who was admitted to the hospital for 2 years due to incomplete menstrual bleeding was reported，after perfecting the pelvic magnetic resonance imaging which revealed cervical and vaginal masses. Our hospital performed cervical biopsy, and rapid pathological examination revealed malignant tumors. Later, a walking radical surgery was performed in an external hospital. Postoperative pathology and molecular testing showed that it was DICER1-associated embryonal rhabdomyosarcoma. After surgery, we combined radiotherapy and chemotherapy. Follow up until August 2023 showed no clinical or imaging recurrence, and tumor markers were normal. The clinical symptoms of embryonal rhabdomyosarcoma of the female reproductive tract are atypical, and its occurrence is closely related to the mutation of DICER1 gene. Individualized treatment plans should be developed based on the patient′s age, tumor location, and fertility protection needs, and follow-up monitoring should be strengthened.

Key words: Uterine cervical neoplasms, Rhabdomyosarcoma, Carcinoma, embryonal, Ribonuclease Ⅲ, Genes, Mutation

张明君, 黄爱华, 高亮. 原发性DICER1相关宫颈横纹肌肉瘤一例[J]. 国际妇产科学杂志, 2024, 51(2): 232-235.

ZHANG Ming-jun, HUANG Ai-hua, GAO Lian. A Case Report of Primary DICER1 Associated Cervical Rhabdomyosarcoma[J]. Journal of International Obstetrics and Gynecology, 2024, 51(2): 232-235.

图/表 4

图1 盆腔MRI图注：A MRI平扫，箭头所示提示宫颈后唇占位；B 增强后，箭头所示占位不均匀强化，边界尚清，并见放射状血管影。

图2 宫颈肿物病理图（HE染色×100）注：可见大量的梭形细胞，核质深染。

图3 免疫组织化学图（EnVision法×100）注：A 肿瘤细胞MyoD1呈弥漫阳性；B 肿瘤细胞Ki-67呈弥漫性阳性。

表1 基因检测报告

检测类型	基因	变异类型	外显子	cDNA改变	氨基酸改变	丰度	基因型	致病风险
体细胞变异	DICER1	错义突变	24	c.5113G>A	p.Glu1705Lys	62.10%	-	-
胚系变异	DICER1	无义突变	12	c.2026C>T	p.Arg676*	-	杂合突变型	致病

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