Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas

IF 3.1 2区 医学 Q2 GENETICS & HEREDITY Genes, Chromosomes & Cancer Pub Date : 2024-08-16 DOI:10.1002/gcc.23255
Sebastian Ibstedt, Paul Piccinelli, Saskia Sydow, Jan Köster, Fredrik Mertens
{"title":"Structural Variants in the SMC1A Gene Associated With Near-Haploidy in Undifferentiated Pleomorphic Sarcomas","authors":"Sebastian Ibstedt,&nbsp;Paul Piccinelli,&nbsp;Saskia Sydow,&nbsp;Jan Köster,&nbsp;Fredrik Mertens","doi":"10.1002/gcc.23255","DOIUrl":null,"url":null,"abstract":"<div>\n \n <p>Near-haploidization, that is, loss of one copy of most chromosomes, is a relatively rare phenomenon in most tumors, but is enriched among certain soft tissue sarcomas, including undifferentiated pleomorphic sarcoma (UPS). Presumably, near-haploidization can arise through many mechanisms. This study aimed to identify gene rearrangements that could cause near-haploidization. We here present two UPS in which near-haploidization was an early event, identified through single nucleotide polymorphism (SNP) array analysis. One of the cases was studied further using whole genome and transcriptome sequencing, as well as cytogenetic and molecular cytogenetic methods. Both tumors had chromosomal rearrangements in the form of copy number shifts/structural variants affecting the <i>SMC1A</i> gene. These findings suggest that cohesin defects could contribute to mitotic errors resulting in massive loss of chromosomes. <i>SMC1A</i> encodes one of the components of the cohesin multiprotein complex, which is critical for proper alignment of the sister chromatids during S-phase and separation to opposite spindle poles. Further studies should explore the role of cohesin defects in near-haploidization in other sarcomas and to clarify its role in tumor development.</p>\n </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"63 8","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes, Chromosomes & Cancer","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/gcc.23255","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

Near-haploidization, that is, loss of one copy of most chromosomes, is a relatively rare phenomenon in most tumors, but is enriched among certain soft tissue sarcomas, including undifferentiated pleomorphic sarcoma (UPS). Presumably, near-haploidization can arise through many mechanisms. This study aimed to identify gene rearrangements that could cause near-haploidization. We here present two UPS in which near-haploidization was an early event, identified through single nucleotide polymorphism (SNP) array analysis. One of the cases was studied further using whole genome and transcriptome sequencing, as well as cytogenetic and molecular cytogenetic methods. Both tumors had chromosomal rearrangements in the form of copy number shifts/structural variants affecting the SMC1A gene. These findings suggest that cohesin defects could contribute to mitotic errors resulting in massive loss of chromosomes. SMC1A encodes one of the components of the cohesin multiprotein complex, which is critical for proper alignment of the sister chromatids during S-phase and separation to opposite spindle poles. Further studies should explore the role of cohesin defects in near-haploidization in other sarcomas and to clarify its role in tumor development.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
与未分化多形性肉瘤近倍性相关的 SMC1A 基因结构变异
在大多数肿瘤中,近单倍体化(即大部分染色体丢失一个拷贝)是一种相对罕见的现象,但在某些软组织肉瘤(包括未分化多形性肉瘤(UPS))中却很常见。据推测,近单倍体化可通过多种机制产生。本研究旨在确定可能导致近单倍体化的基因重排。我们在本文中介绍了通过单核苷酸多态性(SNP)阵列分析确定的两例近单倍体化为早期事件的 UPS。我们采用全基因组和转录组测序以及细胞遗传学和分子细胞遗传学方法对其中一个病例进行了进一步研究。两例肿瘤均存在染色体重排,表现为影响 SMC1A 基因的拷贝数偏移/结构变异。这些发现表明,粘合素缺陷可能导致有丝分裂错误,造成染色体大量丢失。SMC1A 编码凝聚素多蛋白复合物的一个成分,该复合物对于姐妹染色单体在 S 期正确排列和分离到相对的纺锤体两极至关重要。进一步的研究应探讨凝聚素缺陷在其他肉瘤近单倍体化中的作用,并明确其在肿瘤发生发展中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Genes, Chromosomes & Cancer
Genes, Chromosomes & Cancer 医学-遗传学
CiteScore
7.00
自引率
8.10%
发文量
94
审稿时长
4-8 weeks
期刊介绍: Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.
期刊最新文献
Issue Information A Challenging Case of an Intraosseous Composite Hemangioendothelioma of the Occipital Bone With YAP1::FOXR1 Fusion Epigenetic Modeling of Jumping Translocations of 1q Heterochromatin in Acute Myeloid Leukemia After 5'-Azacytidine Treatment Malignant Bone-Forming Neoplasm With NIPBL::BEND2 Fusion Peter Besmer, PhD Obituary (1940–2024)
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1