种系 ATRX 变异是否易患骨肉瘤？两例 ATR-X 综合征患者中的 3 例骨肉瘤附加病例。
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.
机构信息
Unité de Génétique Somatique, Institut Curie, Paris, France.
Unité INSERMU830, Institut Curie, Paris, France.
出版信息
Eur J Hum Genet. 2018 Aug;26(8):1217-1221. doi: 10.1038/s41431-018-0147-x. Epub 2018 Apr 30.
Abstract
Osteosarcoma is the most common malignant bone tumor in adolescents and young adults. Most osteosarcomas are sporadic but the risk of osteosarcoma is also increased by germline variants in TP53, RB1 and RECQL4 genes. ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer. Here we report two children with ATR-X syndrome who developed osteosarcoma. Notably, one of the children developed two osteosarcomas separated by 10 years. Those two cases raise the possibility that ATRX germline variant could be associated with an increased risk of osteosarcoma.
摘要
骨肉瘤是青少年和年轻人中最常见的恶性骨肿瘤。大多数骨肉瘤是散发性的，但 TP53、RB1 和 RECQL4 基因的种系变异也会增加骨肉瘤的风险。ATRX 种系变异可导致罕见的遗传疾病 X 连锁α-地中海贫血智力低下（ATR-X）综合征，其特征为严重的发育迟缓伴α-地中海贫血，但癌症风险无明显增加。在这里，我们报告了两名患有 ATR-X 综合征的儿童，他们均发生了骨肉瘤。值得注意的是，其中一名儿童在 10 年内发生了两次骨肉瘤。这两个病例提示 ATRX 种系变异可能与骨肉瘤风险增加有关。
相似文献
1
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.种系 ATRX 变异是否易患骨肉瘤？两例 ATR-X 综合征患者中的 3 例骨肉瘤附加病例。
Eur J Hum Genet. 2018 Aug;26(8):1217-1221. doi: 10.1038/s41431-018-0147-x. Epub 2018 Apr 30.
2
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.两名患有ATR-X综合征和骨肉瘤的兄弟中存在遗传性种系ATRX突变。
Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28.
3
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.伴线粒体呼吸链功能障碍的 X 连锁ATR 综合征 1 例
Eur J Med Genet. 2021 Aug;64(8):104251. doi: 10.1016/j.ejmg.2021.104251. Epub 2021 May 27.
4
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.与α地中海贫血/智力发育迟缓X连锁综合征相关的表观遗传特征的鉴定。
Epigenetics Chromatin. 2017 Mar 10;10:10. doi: 10.1186/s13072-017-0118-4. eCollection 2017.
5
Partial ATRX gene duplication causes ATR-X syndrome.ATRX基因部分重复导致ATRX综合征。
Am J Med Genet A. 2009 Oct;149A(10):2317-20. doi: 10.1002/ajmg.a.33006.
6
Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.输血依赖型β地中海贫血患者中新型ATRX基因突变与珠蛋白（α和β）基因突变的共遗传
Blood Cells Mol Dis. 2015 Jun;55(1):27-9. doi: 10.1016/j.bcmd.2015.03.008. Epub 2015 Mar 30.
7
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.患有ATRX基因新型C末端截短突变的兄弟姐妹中的癫痫性脑病、肌阵挛性肌张力障碍和青春期早熟
Neuropediatrics. 2019 Oct;50(5):327-331. doi: 10.1055/s-0039-1692141. Epub 2019 Jul 18.
8
Gastrointestinal phenotype of ATR-X syndrome.ATR-X综合征的胃肠道表型。
Am J Med Genet A. 2006 Jun 1;140(11):1172-6. doi: 10.1002/ajmg.a.31248.
9
Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.简要报告：ATRX 基因突变导致的自闭症谱系障碍的证据：一例报告。
J Autism Dev Disord. 2024 Jan;54(1):379-388. doi: 10.1007/s10803-022-05588-x. Epub 2022 May 20.
10
[Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome].[中国一个患有X连锁α地中海贫血智力发育迟缓（ATR-X）综合征家系的临床特征及ATRX基因变异分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1508-1511. doi: 10.3760/cma.j.cn511374-20210702-00565.
引用本文的文献
1
Mutant ATRX: pathogenesis of ATRX syndrome and cancer.突变型ATRX：ATRX综合征与癌症的发病机制
Front Mol Biosci. 2024 Oct 16;11:1434398. doi: 10.3389/fmolb.2024.1434398. eCollection 2024.
2
Germline mutations of homologous recombination genes and clinical outcomes in pancreatic cancer: a multicenter study in Taiwan.胚系同源重组基因突变更胰腺癌的临床结局：台湾的一项多中心研究。
J Biomed Sci. 2024 Feb 13;31(1):21. doi: 10.1186/s12929-024-01008-7.
3
Osteosarcoma in Pediatric and Adult Populations: Are Adults Just Big Kids?儿童和成人人群中的骨肉瘤：成人只是大孩子吗？
Cancers (Basel). 2023 Oct 19;15(20):5044. doi: 10.3390/cancers15205044.
4
ATRX/DAXX: Guarding the Genome against the Hazards of ALT.ATR/DAXX：保护基因组免受 ALT 危害。
Genes (Basel). 2023 Mar 24;14(4):790. doi: 10.3390/genes14040790.
5
Targeted therapy for osteosarcoma: a review.骨肉瘤的靶向治疗：综述。
J Cancer Res Clin Oncol. 2023 Aug;149(9):6785-6797. doi: 10.1007/s00432-023-04614-4. Epub 2023 Feb 18.
6
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.17 例 ATR-X 综合征意大利患者的表型谱和分子发现：一些新见解。
Genes (Basel). 2022 Oct 4;13(10):1792. doi: 10.3390/genes13101792.
7
Mutational spectrum of ATRX aberrations in neuroblastoma and associated patient and tumor characteristics.神经母细胞瘤中ATRX畸变的突变谱及相关患者和肿瘤特征
Cancer Sci. 2022 Jun;113(6):2167-2178. doi: 10.1111/cas.15363. Epub 2022 Apr 26.
8
A Novel Mutation in ATRX Causes Alpha-Thalassemia X-Linked Intellectual Disability Syndrome in a Han Chinese Family.ATRX基因的一种新突变导致一个汉族家庭出现α地中海贫血X连锁智力障碍综合征。
Front Pediatr. 2022 Jan 20;9:811812. doi: 10.3389/fped.2021.811812. eCollection 2021.
9
Synchronous lung and multiple soft tissue metastases developed from osteosarcoma of tibia: a rare case report and genetic profile analysis.胫骨骨肉瘤肺及多部位软组织同步转移：一例罕见病例报告并遗传学特征分析。
BMC Musculoskelet Disord. 2022 Jan 20;23(1):74. doi: 10.1186/s12891-022-05020-6.
10
ATR-X syndrome: genetics, clinical spectrum, and management.ATR-X 综合征：遗传学、临床谱及管理。
Hum Genet. 2021 Dec;140(12):1625-1634. doi: 10.1007/s00439-021-02361-5. Epub 2021 Sep 15.
本文引用的文献
1
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.两名患有ATR-X综合征和骨肉瘤的兄弟中存在遗传性种系ATRX突变。
Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28.
2
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.一种与智力障碍、综合征特征和骨肉瘤相关的ATRX新突变。
Pediatr Blood Cancer. 2017 Oct;64(10). doi: 10.1002/pbc.26522. Epub 2017 Mar 30.
3
Follow-up practices for high-grade extremity Osteosarcoma.肢体高级别骨肉瘤的随访实践
BMC Cancer. 2016 May 6;16:301. doi: 10.1186/s12885-016-2333-y.
4
Comprehensive genomic profiles of small cell lung cancer.全面基因组分析小细胞肺癌
Nature. 2015 Aug 6;524(7563):47-53. doi: 10.1038/nature14664. Epub 2015 Jul 13.
5
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas.弥漫性低级别胶质瘤的综合、整合基因组分析
N Engl J Med. 2015 Jun 25;372(26):2481-98. doi: 10.1056/NEJMoa1402121. Epub 2015 Jun 10.
6
Genomic analysis of metastatic cutaneous squamous cell carcinoma.转移性皮肤鳞状细胞癌的基因组分析
Clin Cancer Res. 2015 Mar 15;21(6):1447-56. doi: 10.1158/1078-0432.CCR-14-1773. Epub 2015 Jan 14.
7
Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma.复发性体细胞结构变异在儿童骨肉瘤的肿瘤发生中起作用。
Cell Rep. 2014 Apr 10;7(1):104-12. doi: 10.1016/j.celrep.2014.03.003. Epub 2014 Apr 3.
8
Integrated genomic characterization of endometrial carcinoma.子宫内膜癌的综合基因组特征分析。
Nature. 2013 May 2;497(7447):67-73. doi: 10.1038/nature12113.
9
ATRX and the replication of structured DNA.ATR 和结构 DNA 的复制。
Curr Opin Genet Dev. 2013 Jun;23(3):289-94. doi: 10.1016/j.gde.2013.01.005. Epub 2013 Feb 28.
10
The genetic landscape of high-risk neuroblastoma.高危神经母细胞瘤的遗传特征。
Nat Genet. 2013 Mar;45(3):279-84. doi: 10.1038/ng.2529. Epub 2013 Jan 20.
Zotero 插件