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.
Keywords: Beckwith-Wiedemann syndrome; fibroepithelial breast tumors; tumorigenesis.
©Copyright 2021 by Turkish Federation of Breast Diseases Associations.