Takama Yuichi, Kubota Akio, Nakayama Masahiro, Higashimoto Ken, Jozaki Kosuke, Soejima Hidenobu
Department of Pediatric Surgery, Osaka Medical Center and Research for Maternal and Child Health, Osaka, Japan.
Department of Pediatric Surgery, Osaka City General Hospital, Osaka, Japan.
Pediatr Int. 2014 Dec;56(6):931-934. doi: 10.1111/ped.12406.
Herein is described a case of breast fibroadenomas in a 16-year-old girl with Beckwith-Wiedemann syndrome (BWS) and uniparental disomy (UPD) of chromosome 11p15.5. She was clinically diagnosed with BWS and direct closure was performed for an omphalocele at birth. Subtotal and 90% pancreatectomy were performed for nesidioblastosis at the ages 2 months and 8 years, respectively. Bilateral multiple breast fibroadenomas were noted at the age of 16 and 17 years. In this case, paternal UPD of chromosome 11p15.5 was identified on microsatellite marker analysis. The relevant imprinted chromosomal region in BWS is 11p15.5, and UPD of chromosome 11p15 is a risk factor for BWS-associated tumorigenicity. Chromosome 11p15.5 consists of imprinting domains of IGF2, the expression of which is associated with the tumorigenesis of various breast cancers. This case suggests that fibroadenomas occurred in association with BWS.
本文描述了一名16岁患有贝克威思-维德曼综合征（BWS）且11p15.5染色体单亲二倍体（UPD）的女孩患乳腺纤维腺瘤的病例。她临床上被诊断为BWS，出生时因脐膨出进行了直接缝合。分别在2个月和8岁时因胰岛细胞增殖症进行了胰腺次全切除术和90%胰腺切除术。在16岁和17岁时发现双侧多发性乳腺纤维腺瘤。在该病例中，通过微卫星标记分析确定了11p15.5染色体的父源UPD。BWS中相关的印记染色体区域是11p15.5，11p15染色体的UPD是BWS相关肿瘤发生的危险因素。11p15.5染色体由IGF2的印记结构域组成，其表达与各种乳腺癌的肿瘤发生有关。该病例表明纤维腺瘤与BWS相关。
