Yo Sato, Yusuke Watanabe, Takafumi Morisaki, Saori Hayashi, Yoshiki Otsubo, Yurina Ochiai, Kimihisa Mizoguchi, Yuka Takao, Mai Yamada, Yusuke Mizuuchi, Masafumi Nakamura, Makoto Kubo
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, reports of patients with BWS and breast tumors are rare, and the association between these conditions is still unclear. Insulin-like growth factor-2 (IGF2) expression is known to be associated with the development of various cancers, including breast cancer, and patients with BWS with specific subtypes of molecular defects are known to show characteristic clinical features and IGF2 overexpression...
March 22, 2024: Surgical Case Reports