Abstract
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.
Highlights
Lateralized overgrowth (LO) is defined as any type of segmental overgrowth [1] (Figure 1)
We review the most common syndromes characterized by LO: Beckwith-Wiedemann spectrum (BWSp) (OMIM 130650), PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome (PS) (OMIM 176920), and PTEN hamartoma tumor syndrome (PHTS)
In patients affected by clinical diagnoses of PROS, it is likely that the negative genetic result(s) observed are due to the somatic and mosaic nature of the PIK3CA mutation leading to the phenotype, which may be difficult to detect from a single sample
Summary
Lateralized overgrowth (LO) is defined as any type of segmental overgrowth [1] (Figure 1). These molecular changes may influence the tissue type, location of the observed overgrowth, and associated tumor risk in patients. We focus on tumor development and risks associated within each syndrome and summarize current screening recommendations.
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