Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth

Frontiers in Pediatrics

article

Jessica R. Griff¹  Kelly A. Duffy¹  Jennifer M. Kalish² 

[1] Division of Human Genetics, Children's Hospital of Philadelphia, United States;Departments of Genetics and Pediatrics, Perelman School of Medicine, University of Pennsylvania, United States

关键词: lateralized overgrowth;    hemihypertrophy;    hemihyperplasia;    Beckwith-Wiedemann spectrum;    Beckwith-Wiedemann syndrome (BWS);    PIK3CA-related overgrowth spectrum (PROS);    Proteus syndrome (PS);    PTEN hamartoma tumor syndrome;   

DOI  :  10.3389/fped.2020.613260

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Lateralized overgrowth (LO), or segmental overgrowth, is defined as an increase in growth of tissue (bone, muscle, connective tissue, vasculature, etc.) in any region of the body. Some overgrowth syndromes, characterized by both generalized and lateralized overgrowth, have been associated with an increased risk of tumor development. This may be due to the underlying genetic and epigenetic defects that lead to disrupted cell growth and proliferation pathways resulting in the overgrowth and tumor phenotypes. This chapter focuses on the four most common syndromes characterized by LO: Beckwith-Wiedemann spectrum (BWSp), PIK3CA -related overgrowth spectrum (PROS), Proteus syndrome (PS), and PTEN hamartoma tumor syndrome (PHTS). These syndromes demonstrate variable risks for tumor development in patients affected by LO, and we provide a comprehensive literature review of all common tumors reported in patients diagnosed with an LO-related disorder. This review summarizes the current data on tumor risk among these disorders and their associated tumor screening guidelines. Furthermore, this chapter highlights the importance of an accurate diagnosis when a patient presents with LO as similar phenotypes are associated with different tumor risks, thereby altering preventative screening protocols.

【 授权许可】

CC BY