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一名患有贝克威思-维德曼综合征青少年的乳腺纤维上皮性肿瘤:病例报告及文献综述

Fibroepithelial Breast Tumors in a Teenager with Beckwith-Wiedemann Syndrome: A Case Report and Review of Literature.

作者信息

Oktay Ayşenur, Esmat Habib Ahmad, Aslan Özge

机构信息

Department of Radiology, Ege University, İzmir, Turkey.

Department of Radiology, Kabul University of Medical Sciences, Kabul, Afghanistan.

出版信息

Eur J Breast Health. 2021 Jun 24;17(3):288-291. doi: 10.4274/ejbh.galenos.2021.6271. eCollection 2021 Jul.

Abstract

Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features, including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. Its diagnosis is based on molecular tests or clinical signs. However, in children with features of BWS who do not fulfill the clinical diagnostic criteria, the molecular tests may play an important role in the diagnosis. There is an increased risk of embryonal tumors in patients with BWS, but few case reports have been reported on benign breast tumors in female adolescents with this syndrome. To our knowledge, this is the first case report in the literature that describes the imaging findings of fibroepithelial breast tumors (phyllodes tumor and fibroadenomas) in a 13-year-old female with BWS, highlighting the need for lifelong tumor surveillance in this patient population.

摘要

贝克威思-维德曼综合征(BWS)是一种人类基因组印记紊乱疾病,具有广泛的临床特征,包括生长过度、腹壁缺损、巨舌、新生儿低血糖以及易患胚胎性肿瘤。其诊断基于分子检测或临床体征。然而,对于具有BWS特征但不符合临床诊断标准的儿童,分子检测在诊断中可能起重要作用。BWS患者患胚胎性肿瘤的风险增加,但关于患有该综合征的女性青少年发生良性乳腺肿瘤的病例报告很少。据我们所知,这是文献中首例描述13岁患有BWS的女性纤维上皮性乳腺肿瘤(叶状肿瘤和纤维腺瘤)影像学表现的病例报告,强调了对该患者群体进行终身肿瘤监测的必要性。

相似文献

2
Metastatic Phyllodes Tumor in a Patient With Beckwith-Wiedemann Syndrome.伴 Beckwith-Wiedemann 综合征的叶状肿瘤转移。
J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221133197. doi: 10.1177/23247096221133197.
3
Diagnosis and Management of Beckwith-Wiedemann Syndrome.贝克威思-维德曼综合征的诊断与管理
Front Pediatr. 2020 Jan 21;7:562. doi: 10.3389/fped.2019.00562. eCollection 2019.

本文引用的文献

1
Diagnosis and Management of Beckwith-Wiedemann Syndrome.贝克威思-维德曼综合征的诊断与管理
Front Pediatr. 2020 Jan 21;7:562. doi: 10.3389/fped.2019.00562. eCollection 2019.
8
Phyllodes tumor of breast: a review article.乳腺叶状肿瘤:一篇综述文章。
ISRN Surg. 2013;2013:361469. doi: 10.1155/2013/361469. Epub 2013 Mar 20.
9
Beckwith-Wiedemann syndrome.贝克威思-威德曼综合征。
Eur J Hum Genet. 2010 Jan;18(1):8-14. doi: 10.1038/ejhg.2009.106.

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