Stephanie Ka Lun Ho , Grace Pui Yung Tong , Lai-Ting Leung , Shirley Sze Wing Cheng , Eric Chun Ho Fu , Ivan Fai Man Lo , Anthony Pak Yin Liu , Ho-ming Luk
{"title":"RECQL4-related Rothmund-Thomson syndrome: A case series and literature review","authors":"Stephanie Ka Lun Ho , Grace Pui Yung Tong , Lai-Ting Leung , Shirley Sze Wing Cheng , Eric Chun Ho Fu , Ivan Fai Man Lo , Anthony Pak Yin Liu , Ho-ming Luk","doi":"10.1016/j.cancergen.2025.02.013","DOIUrl":null,"url":null,"abstract":"<div><div>Rothmund-Thomson syndrome (RTS) is a multisystemic tumour-predisposing genodermatosis caused by biallelic pathogenic alterations in the <em>ANAPC1</em> gene or <em>RECQL4</em> gene. Herein we describe the clinical and genetic findings in three individuals with molecularly substantiated <em>RECQL4</em>-related RTS. Based on the disease course of two patients with osteosarcoma, we highlight the critical importance of early diagnosis.</div></div>","PeriodicalId":49225,"journal":{"name":"Cancer Genetics","volume":"292 ","pages":"Pages 131-136"},"PeriodicalIF":2.1000,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancer Genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2210776225000304","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Rothmund-Thomson syndrome (RTS) is a multisystemic tumour-predisposing genodermatosis caused by biallelic pathogenic alterations in the ANAPC1 gene or RECQL4 gene. Herein we describe the clinical and genetic findings in three individuals with molecularly substantiated RECQL4-related RTS. Based on the disease course of two patients with osteosarcoma, we highlight the critical importance of early diagnosis.
期刊介绍：
The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
