Giant breast tumors in a patient with Beckwith-Wiedemann syndrome

Gerarda Cappuccio, Agostina De Crescenzo, Giuseppe Ciancia, Luigi Canta, Marzia Moio, Ilaria Mataro, Valeria Varone, Guido Pettinato, Orazio Palumbo, Massimo Carella, Andrea Riccio, Nicola Brunetti-Pierri

Research output: Contribution to journalArticlepeer-review


Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of embryonal tumors, such as Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma. We report on a patient with BWS that developed a giant fibroadenoma of the breast that was surgically removed. The tumor relapsed 8 months after the surgery and the patient underwent partial mastectomy. Although the patient presented several clinical features of BWS, a molecular diagnosis was not achieved despite extensive molecular investigations on both blood and tumor tissue. A SNP array revealed a de novo 7p22.1 loss in both blood and breast tumor involving the mismatch repair gene PMS2 gene that may be potentially associated with the breast tumor. In conclusion, it remains unclear whether BWS patients have an increased risk of breast lesions or a yet unknown molecular defect is responsible for the rare occurrence of this tumor in BWS.

Original languageEnglish
Pages (from-to)182-185
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number1
Publication statusPublished - Jan 2014


  • Beckwith-Wiedemann
  • Breast tumor
  • Fibroadenoma
  • Giant breast lesions

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)


Dive into the research topics of 'Giant breast tumors in a patient with Beckwith-Wiedemann syndrome'. Together they form a unique fingerprint.

Cite this