Oktay Ayşenur, Esmat Habib Ahmad, Aslan Özge
Department of Radiology, Ege University, İzmir, Turkey.
Department of Radiology, Kabul University of Medical Sciences, Kabul, Afghanistan.
Eur J Breast Health. 2021 Jun 24;17(3):288-291. doi: 10.4274/ejbh.galenos.2021.6271. eCollection 2021 Jul.
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.
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。