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Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome.

作者信息

Menke Jan, Pauli Silke, Sigler Matthias, Kühnle Ingrid, Shoukier Moneef, Zoll Barbara, Ganster Christina, Salinas-Riester Gabriela, Schaefer Inga-Marie

机构信息

University Medical Center Goettingen, Goettingen, Germany

University Medical Center Goettingen, Goettingen, Germany.

出版信息

J Clin Oncol. 2015 May 1;33(13):e62-5. doi: 10.1200/JCO.2013.49.6539. Epub 2014 Mar 17.

DOI:10.1200/JCO.2013.49.6539
PMID:24637993
Abstract
摘要

相似文献

1
Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome.患有科斯特洛综合征患者的胚胎性横纹肌肉瘤中突变型HRAS原癌基因的单亲三体性。
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2
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.父源单亲二体伴11号染色体杂合性节段性缺失是综合征型和散发性胚胎性横纹肌肉瘤的标志性特征。
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Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.患有科斯特洛综合征婴儿胰腺结节中的父源单亲二体11p15.5:科斯特洛综合征与贝克威思-维德曼综合征新生儿高胰岛素性低血糖的共同机制以及科斯特洛综合征中杂合性体细胞缺失驱动克隆性扩增
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The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.伴有严重新生儿肥厚型心肌病的罕见的科斯特洛(Costello)变异型HRAS基因c.173C>T(p.T58I)
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Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.胚胎性横纹肌肉瘤中11p15.5染色体单亲二倍体继之以HRAS突变:来自科斯特洛综合征的教训
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HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.在角化不良性综合征患者中鉴定的 HRAS 突变体可诱导细胞衰老:对角化不良性综合征发病机制的可能影响。
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引用本文的文献

1
Multidisciplinary Management of Costello Syndrome: Current Perspectives.科斯特洛综合征的多学科管理:当前观点
J Multidiscip Healthc. 2022 Jun 2;15:1277-1296. doi: 10.2147/JMDH.S291757. eCollection 2022.
2
Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.一名携带种系CBL致病变异的患者发生胚胎性横纹肌肉瘤。
Cancer Genet. 2019 Feb;231-232:62-66. doi: 10.1016/j.cancergen.2018.12.006. Epub 2018 Dec 30.
3
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.
两名儿科患者的科斯特洛综合征与脐韧带横纹肌肉瘤:病例报告及文献综述
Case Rep Genet. 2017;2017:1587610. doi: 10.1155/2017/1587610. Epub 2017 Jan 19.
4
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.父源单亲二体伴11号染色体杂合性节段性缺失是综合征型和散发性胚胎性横纹肌肉瘤的标志性特征。
Am J Med Genet A. 2016 Dec;170(12):3197-3206. doi: 10.1002/ajmg.a.37949. Epub 2016 Sep 2.
5
Rhabdomyosarcoma of the head and neck in children.儿童头颈部横纹肌肉瘤
Contemp Oncol (Pozn). 2015;19(2):98-107. doi: 10.5114/wo.2015.49158. Epub 2015 Feb 13.