切换至 "中华医学电子期刊资源库"

中华产科急救电子杂志 ›› 2025, Vol. 14 ›› Issue (01) : 59 -62. doi: 10.3877/cma.j.issn.2095-3259.2025.01.011

病例报告

VHL 综合征小脑血管母细胞瘤切除术后妊娠并足月分娩一例
苗永慧1, 吴毅1, 余琳1, 曾毅1,()   
  1. 1. 510150 广州医科大学附属第三医院妇产科 广东省产科重大疾病重点实验室 广东省妇产疾病临床医学研究中心 粤港澳母胎医学高校联合实验室
  • 收稿日期:2024-01-09 出版日期:2025-02-18
  • 通信作者: 曾毅

A case of pregnancy and full-term delivery after resection of cerebellar hemangioblastoma in VHL syndrome

Yonghui Miao, Yi Wu, Li Yu, Yi Zeng()   

  • Received:2024-01-09 Published:2025-02-18
  • Corresponding author: Yi Zeng
引用本文:

苗永慧, 吴毅, 余琳, 曾毅. VHL 综合征小脑血管母细胞瘤切除术后妊娠并足月分娩一例[J/OL]. 中华产科急救电子杂志, 2025, 14(01): 59-62.

Yonghui Miao, Yi Wu, Li Yu, Yi Zeng. A case of pregnancy and full-term delivery after resection of cerebellar hemangioblastoma in VHL syndrome[J/OL]. Chinese Journal of Obstetric Emergency(Electronic Edition), 2025, 14(01): 59-62.

图1 VHL 综合征小脑血管母细胞瘤切除术后妊娠并足月分娩患者磁共振成像检查图像 A:2013年行小脑血管母细胞瘤切除术后3 个月头颅磁共振成像图像,箭头示左侧小脑半球内软化灶;B:产后8 个月上腹部增强磁共振检查图像,箭头示胰腺多发小囊肿;C:产后8 个月上腹部增强磁共振检查图像,箭头示肾脏多发小囊肿;D:2021年4月复查头颅磁共振成像图像,示右侧小脑半球(约2 mm,黄色箭头)、小脑蚓部、延髓后部(约5 mm,红色箭头)多发病灶,考虑血管母细胞瘤复发
表1 VHL 综合征小脑血管母细胞瘤切除术后妊娠并足月分娩患者VHL 基因检测结果
图2 VHL 综合征小脑血管母细胞瘤切除术后妊娠并足月分娩患者家系全外显子高通量基因测序检测结果图
[1]
Nielsen SM, Rhodes L, Blanco I, et al. Von Hippel-Lindau disease: genetics and role of genetic counseling in a multiple neoplasia syndrome[J]. J Clin Oncol, 2016,34(18):2172-2181.
[2]
Lonser RR, Kim HJ, Butman JA, et al. Tumors of the endolymphatic sac in von Hippel-Lindau disease[J]. N Engl J Med,2004,350(24):2481-2486.
[3]
Maher ER, Neumann HP, Richard S. Von Hippel-Lindau disease: a clinical and scientific review[J]. Eur J Hum Genet,2011,19(6):617-623.
[4]
Walther MM, Linehan WM. Von Hippel-Lindau disease and pheochromocytoma[J]. JAMA,1996,275(11):839-840.
[5]
Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation[J]. Arch Ophthalmol,1999,117(3):371-378.
[6]
Dollfus H, Massin P, Taupin P, et al. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study[J].Invest Ophthalmol Vis Sci,2002,43(9):3067-3074.
[7]
Lonser RR, Weil RJ, Wanebo JE, et al. Surgical management of spinal cord hemangioblastomas in patientswith von Hippel-Lindau disease[J]. J Neurosurg,2003,98(1):106-116.
[8]
Zhou B,Wang J,Liu S,et al. Hemangioblastoma Instead of renal cell carcinoma plays a major role in the unfavorable overall survival of von Hippel-Lindau disease patients[J]. Front Oncol,2019,9:1037.
[9]
Rednam SP, Erez A, Druker H, et al. Von Hippel-Lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood[J]. Clin Cancer Res,2017,23(12):e68-75.
[10]
Maher ER, Yates JR, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease[J]. Q J Med,1990,77(283):1151-1163.
[11]
Wilding A, Ingham SL, Lalloo F, et al. Life expectancy in hereditary cancer predisposing diseases: an observational study[J]. J Med Genet,2012,49(4):264-269.
[12]
Wang JY, Peng SH, Li T, et al. Risk factors for survival in patients with von Hippel-Lindau disease[J]. J Med Genet,2018,55(5):322-328.
[13]
Binderup ML, Jensen AM, Budtz-Jørgensen E, et al. Survival and causes of death in patients with von Hippel-Lindau disease[J]. J Med Genet,2017,54(1):11-18.
[14]
Gläsker S. Central nervous system manifestations in VHL:genetics, pathology and clinical phenotypic features[J]. Fam Cancer,2005,4(1):37-42.
[15]
Lonser RR, Glenn GM, Walther M, et al. Von Hippel-Lindau disease[J]. Lancet,2003,361(9374):2059-2067.
[16]
Kwon T, Jeong IG, Pak S, et al. Renal tumor size is an independent prognostic factor for overall survival in von Hippel-Lindau disease[J]. J Cancer Res Clin Oncol,2014,140(7):1171-1177.
[17]
陈军法, 陈卫霞. Von Hippel-Lindau 综合征的内脏病变[J].放射学实践,2007,22(10):1122-1124.
[18]
Choyke PL, Glenn GM, Wagner JP, et al. Epididymal cystadenomas in von Hippel-Lindau disease[J]. Urology,1997,49(6):926-931.
[19]
O′Brien FJ, Danapal M, Jairam S,et al. Manifestations of von Hippel Lindau syndrome: a retrospective national review[J].QJM,2014,107(4):291-296.
[20]
Adam MP, Feldman J, Mirzaa GM, et al. GeneReviews® [M/OL]. Seattle:University of Washington,1993-2024 [2024-01-09]. https:/ /www.ncbi.nlm.nih.gov/books/NBK1116/.
[21]
Frantzen C, Kruizinga RC, van Asselt SJ, et al. Pregnancyrelated hemangioblastoma progression and complications in von Hippel-Lindau disease[J]. Neurology,2012,79(8):793-796.
[22]
Binderup ML,Budtz-Jørgensen E,Bisgaard ML. New von Hippel-Lindau manifestations develop at the same or decreased rates in pregnancy[J]. Neurology,2015,85(17):1500-1503.
[23]
Ye DY, Bakhtian KD, Asthagiri AR, et al. Effect of pregnancy on hemangioblastoma development and progression in von Hippel-Lindau disease[J]. J Neurosurg,2012,117(5):818-824.
[24]
Phupong V, Witoonpanich P, Snabboon T, et al. Bilateral pheochromocytoma during pregnancy[J]. Arch Gynecol Obstet,2005,271(3):276-279.
[25]
Daniels AB, Tirosh A, Huntoon K, et al. Guidelines for surveillance of patients with von Hippel-Lindau disease:consensus statement of the International VHL Surveillance Guidelines Consortium and VHL Alliance[J]. Cancer,2023,129(19):2927-2940.
[26]
Van Calsteren K, Heyns L, De Smet F, et al. Cancer during pregnancy: an analysis of 215 patients emphasizing the obstetrical and theneonatal outcomes[J]. J Clin Oncol,2010,28(4):683-689.
[27]
周燕媚, 陈敦金. 妊娠合并恶性肿瘤14 例临床分析[J/CD].中华产科急救电子杂志,2016,5(4):249-253.
[28]
Brownfoot FC, Gagliardi DI, Bain E, et al. Different corticosteroids and regimens for accelerating fetal lung maturation for women at risk of preterm birth[J]. Cochrane Database Syst Rev,2013(8):CD006764.
[29]
Zwinkels H, Dörr J, Kloet F, et al. Pregnancy in women with gliomas: a case-series and review of the literature [ J]. J Neurooncol,2013,115(2):293-301.
[30]
Ogasawara KK, Ogasawara EM, Hirata G. Pregnancy complicated by von Hippel-Lindau disease[J]. Obstet Gynecol,1995,85(5 Pt 2):829-831.
[31]
Johnson N, Sermer M, Lausman A, et al. Obstetric outcomes of women with intracranial neoplasms[J]. Int J Gynecol Obstet,2009,105(1):56-59.
No related articles found!
阅读次数
全文


摘要