{"title":"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。","authors":"Yasin Durmuş, Mustafa Koray Kırdağ, Kıvanç Yılmaz, Emre Aydın, Mesut Ozturk, Özlem Sezer","doi":"10.1002/ijgo.70212","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":14164,"journal":{"name":"International Journal of Gynecology & Obstetrics","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Plexiform neurofibroma infiltrating uterine cervix and parametrium, causing hydronephrosis: A case report and review of the literature.\",\"authors\":\"Yasin Durmuş, Mustafa Koray Kırdağ, Kıvanç Yılmaz, Emre Aydın, Mesut Ozturk, Özlem Sezer\",\"doi\":\"10.1002/ijgo.70212\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":14164,\"journal\":{\"name\":\"International Journal of Gynecology & Obstetrics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-05-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Gynecology & Obstetrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/ijgo.70212\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Gynecology & Obstetrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ijgo.70212","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
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.
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.