recql4相关的罗斯蒙-汤姆森综合征：一个病例系列和文献回顾

IF 2.1 4区医学 Q4 GENETICS & HEREDITY

Cancer Genetics Pub Date : 2025-02-26 DOI:10.1016/j.cancergen.2025.02.013

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

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引用次数: 0

摘要

罗斯蒙-汤姆森综合征（RTS）是一种由ANAPC1基因或RECQL4基因双等位基因致病性改变引起的多系统肿瘤易感性遗传性皮肤病。在此，我们描述了三例分子证实的recql4相关RTS患者的临床和遗传学发现。根据两例骨肉瘤患者的病程，我们强调早期诊断的重要性。

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RECQL4-related Rothmund-Thomson syndrome: A case series and literature review

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.

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来源期刊

Cancer Genetics ONCOLOGY-GENETICS & HEREDITY

CiteScore

3.20

自引率

5.30%

发文量

167

审稿时长

27 days

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.