Abstract

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder typically brought to the attention of physicians by the recognition of physical features in children, categorized as major and minor features. It is associated with genetic and epigenetic changes on the chromosome 11p15 region. BWS is a common cancer predisposition disorder, and as a result, BWS patients receive tumor screening. BWS patients are screened using ultrasound (US) and magnetic resonance imaging (MRI) to detect abdominal tumors, and alpha-fetoprotein (AFP) to detect liver masses. There are concerns about the necessity of AFP screening because patients may experience anxiety from the invasive nature of a blood draw and there may be challenges in interpreting the results. An elevated AFP level is not an absolute indication of a malignant tumor, and various factors, such as prematurity, make interpretation challenging. The overarching goal of this study was to focus on whether AFP can be used in patients with BWS to distinguish hepatoblastomas from hemangiomas. Based on this study, AFP is not able to distinguish benign versus malignant tumors in patients with BWS or in the normal population at p >0.05. We analyzed the data of 52 patients across four groups using statistics, meta-analysis, and imaging. The literature was consistent with our conclusion that there was not a clear use of AFP alone to distinguish benign versus malignant tumors within the BWS population. The imaging performed on these patients, whether they had BWS or not, hemangioma or hepatoblastoma, varied.

Advisor

Fraga, Dean

Department

Biochemistry and Molecular Biology

Disciplines

Medicine and Health Sciences

Publication Date

2023

Degree Granted

Bachelor of Arts

Document Type

Senior Independent Study Thesis

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© Copyright 2023 Sena Houessou-Adin