丛状神经纤维瘤浸润子宫颈及参数引起肾积水1例报告并文献复习。

IF 2.6 3区 医学 Q2 OBSTETRICS & GYNECOLOGY
Yasin Durmuş, Mustafa Koray Kırdağ, Kıvanç Yılmaz, Emre Aydın, Mesut Ozturk, Özlem Sezer
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引用次数: 0

摘要

1型神经纤维瘤病是一种导致RAS通路激活的遗传性疾病。因此,与一般人群相比,患良性和恶性肿瘤的风险更高。丛状神经纤维瘤是周围神经鞘的良性肿瘤,占1型神经纤维瘤病患者的40%-50%。摘要颈旁丛状神经纤维瘤是一种非常罕见的肿瘤。在这里,我们提出文献中的第九例。一位37岁的女性表现为慢性盆腔疼痛和盆腔肿块,大小为73 × 33 mm。大部分肿块位于阴道-宫颈近端和膀胱之间。浸润双侧参数和直肠旁组织。右侧肾积水,右肾萎缩。肿瘤也可能造成左脑阻塞。我们行B型根治性子宫切除术、右侧输卵管-卵巢切除术、左侧输卵管切除术、膀胱镜检查、左侧输尿管镜检查、左侧输尿管双置管术,并切除位于宫颈和膀胱之间的肿瘤。随访11个月,肿瘤未复发。随访期间左肾保持正常。据我们所知,这是首次报道神经纤维瘤病1型突变C .7615 + 6 T>C为致病变异。在本例中,我们发现,当诊断宫颈附近的盆腔肿块时,特别是当肿瘤倾向于伴行周围神经束时,应考虑丛状神经纤维瘤和神经纤维瘤病。在某些情况下,建议手术治疗颈侧丛状神经纤维瘤,多学科方法可能有助于确定最佳治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Plexiform neurofibroma infiltrating uterine cervix and parametrium, causing hydronephrosis: A case report and review of the literature.

Neurofibromatosis Type 1 is a genetic disorder resulting in RAS pathway activation. As a result, risk of developing both benign and malignant neoplasms is higher, compared with the general population. Plexiform neurofibromas are benign tumors of the peripheral nerve sheath affecting 40%-50% of patients with neurofibromatosis Type 1. Cervical-parametrial plexiform neurofibroma is a very rare neoplasm. Here we present the ninth case in the literature. A 37-year-old woman presented with chronic pelvic pain and a pelvic mass that was 73 × 33 mm in size. Most of the mass was located between the proximal vagina-cervix and the bladder. It was infiltrating the bilateral parametrium and the pararectal tissues. There was hydronephrosis on the right side and her right kidney was atrophic. The tumor would likely also cause obstruction on the left side. We performed a type B radical hysterectomy, right salpingo-oophorectomy, left salpingectomy, cystoscopy, left ureterorenoscopy, and left ureteral double-j catheterization, in addition to resection of the tumor, which was located between the cervix and bladder. She was followed for 11 months without any tumor relapse. The left kidney remained normal in the follow-up period. To our knowledge, this is the first publication reporting the neurofibromatosis Type1 mutation c.7615 + 6 T>C as a pathogenic variant. In this case, we showed that plexiform neurofibromas and neurofibromatosis should be taken into account, when a pelvic mass adjacent to the uterine cervix is diagnosed, particularly if the tumor tends to accompany the peripheral nerve tracts. Surgical treatment of cervical-parametrial plexiform neurofibromas is recommended in certain circumstances and a multidisciplinary approach may help to determine the optimal management.

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来源期刊
CiteScore
5.80
自引率
2.60%
发文量
493
审稿时长
3-6 weeks
期刊介绍: The International Journal of Gynecology & Obstetrics publishes articles on all aspects of basic and clinical research in the fields of obstetrics and gynecology and related subjects, with emphasis on matters of worldwide interest.
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