带有22号染色体单体的巨大子宫肌瘤。1例临床病例

Q4 Medicine
M. Yarmolinskaya, A. A. Tsypurdeeva, Nikolai I. Polenov, O. Malysheva, A. S. Koltsova, A. Pendina, O. Efimova, N. Osinovskaya, N. Shved
{"title":"带有22号染色体单体的巨大子宫肌瘤。1例临床病例","authors":"M. Yarmolinskaya, A. A. Tsypurdeeva, Nikolai I. Polenov, O. Malysheva, A. S. Koltsova, A. Pendina, O. Efimova, N. Osinovskaya, N. Shved","doi":"10.17816/jowd375307","DOIUrl":null,"url":null,"abstract":"We present a clinical case of giant uterine fibroids in this research, with the peculiarity of surgical treatment and the course of the postoperative period described. A series of genetic studies specific to uterine fibroids was performed, namely, mutations in the MED12 gene, overexpression of the HMGA2 gene, and chromosomal imbalance. We did not detect mutations of exon 2 of the MED12 gene and an increase in the expression of the HMGA2 gene in the patients myomatous node sample. The molecular karyotype arr(22)1 (chromosome 22 monosomy) was established by comparative genomic hybridization in the tissue of giant uterine fibroids.","PeriodicalId":16623,"journal":{"name":"Journal of obstetrics and women's diseases","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Giant uterine fibroids with chromosome 22 monosomy. A clinical case\",\"authors\":\"M. Yarmolinskaya, A. A. Tsypurdeeva, Nikolai I. Polenov, O. Malysheva, A. S. Koltsova, A. Pendina, O. Efimova, N. Osinovskaya, N. Shved\",\"doi\":\"10.17816/jowd375307\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We present a clinical case of giant uterine fibroids in this research, with the peculiarity of surgical treatment and the course of the postoperative period described. A series of genetic studies specific to uterine fibroids was performed, namely, mutations in the MED12 gene, overexpression of the HMGA2 gene, and chromosomal imbalance. We did not detect mutations of exon 2 of the MED12 gene and an increase in the expression of the HMGA2 gene in the patients myomatous node sample. The molecular karyotype arr(22)1 (chromosome 22 monosomy) was established by comparative genomic hybridization in the tissue of giant uterine fibroids.\",\"PeriodicalId\":16623,\"journal\":{\"name\":\"Journal of obstetrics and women's diseases\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of obstetrics and women's diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.17816/jowd375307\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of obstetrics and women's diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.17816/jowd375307","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

我们报告了一例巨大子宫肌瘤的临床病例,并描述了手术治疗的特点和术后的过程。我们对子宫肌瘤进行了一系列特异性的遗传研究,即MED12基因突变、HMGA2基因过表达和染色体失衡。我们没有检测到MED12基因外显子2的突变和患者肌瘤淋巴结样本中HMGA2基因表达的增加。采用比较基因组杂交技术,在巨大子宫肌瘤组织中建立了分子核型arr(22)1(22号染色体单体)。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Giant uterine fibroids with chromosome 22 monosomy. A clinical case
We present a clinical case of giant uterine fibroids in this research, with the peculiarity of surgical treatment and the course of the postoperative period described. A series of genetic studies specific to uterine fibroids was performed, namely, mutations in the MED12 gene, overexpression of the HMGA2 gene, and chromosomal imbalance. We did not detect mutations of exon 2 of the MED12 gene and an increase in the expression of the HMGA2 gene in the patients myomatous node sample. The molecular karyotype arr(22)1 (chromosome 22 monosomy) was established by comparative genomic hybridization in the tissue of giant uterine fibroids.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Journal of obstetrics and women's diseases
Journal of obstetrics and women's diseases Medicine-Obstetrics and Gynecology
CiteScore
0.40
自引率
0.00%
发文量
53
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信