Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.

Abstract

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.

• Authors: Yuichi Takama, Akio Kubota, Masahiro Nakayama, Ken Higashimoto, Kosuke Jozaki, Hidenobu Soejima
• Journal: Pediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 56 Issue 6 Pg. 931-934 (Dec 2014) ISSN: 1442-200X [Electronic] Australia
• PMID: 25521982 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2014 Japan Pediatric Society.

Topics

• Adolescent
• Beckwith-Wiedemann Syndrome (genetics, pathology)
• Breast Neoplasms (etiology)
• Chromosomes, Human, Pair 11
• Female
• Fibroadenoma (etiology)
• Humans
• Uniparental Disomy (pathology)