P406: Beyond embryonal tumors: Could BWS increase the risk of other tumors?

Treatment and Management: She is discussing the option of surgical removal of the fibroadenoma due to breast discomfort.Outcome and Follow-Up: An overgrowth gene panel is currently in process.Discussion: There have been 17 females with BWS reported with breast fibroadenomas, the majority of which had a genome-wide paternal uniparental isodisomy (GWpUPD).Two adult females with pUPD11 were reported to have ductal carcinoma in situ, and invasive ductal carcinoma at ages 31 and 29 years, respectively, both underwent bilateral mastectomies.Outside the typical tumors, and the breast findings recently reported in one study, other benign and malignant tumors have not been frequently reported in BWS.Our patient had a history of an osteochondroma, unclear cystic changes in the pineal gland, and a breast fibroadenoma, which raised the question whether or not those could be related to BWS.Conclusion: Additional studies are needed to better understand breast tumor risk in females with BWS, and whether certain molecular and epigenetic changes have higher breast cancer risk than others.This will help guide evidence-based surveillance recommendations for those patients.It is also important to broaden our radar into potential other tumor risks in BWS, as we continue to observe those individuals as adults.It is possible that BWS tumor spectrum may be expanded when our knowledge advances.Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth condition due to epigenetic abnormalities on 11p15.Common features include macroglossia, lateralized overgrowth, abdominal wall defects, and increased risk of embryonal tumors.Most recently, a study reported females with BWS with benign and malignant breast tumors.We here described a 14-year-old female with BWS, breast fibroadenoma, pineal gland cyst, and chondrocytoma.Case Presentation: A 14-year-old female diagnosed with BWS around 5 months of age after noting right lower limb overgrowth.At 6 years of age, she was found to have elevated optic discs.Brain MRI revealed an incidental multicystic change in the pineal gland, which remained unchanged in a 1-year follow-up imaging.At age 10, she had right proximal tibia epiphysiodesis and removal of an osteochondroma from the right proximal tibia.At age 14 years, she developed a right breast mass.Diagnostic Workup: Genetic testing identified abnormal methylation due to loss of imprinting of H19 and LIT1 genes on 11p15.5, consistent with uniparental disomy (UPD).SNV microarray was completely normal.Breast mass biopsy revealed a fibroadenoma.