Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

Ioannis G Koutlas; Ana-Lia Anbinder; Rana Alshagroud; Ana Sueli Rodrigues Cavalcante; Mohammed Al Kindi; Molly M Crenshaw; Julie C Sapp; Hannah Kondolf; Marjorie J Lindhurst; Jeffrey N Dudley; Jennifer J Johnston; Elyse Ryan; Keith Rafferty; Arupa Ganguly; Leslie G Biesecker

doi:10.1016/j.xhgg.2020.100009

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

HGG Adv. 2020 Aug 14;1(1):100009. doi: 10.1016/j.xhgg.2020.100009. eCollection 2020 Oct 22.

Authors

Affiliations

¹ Division of Oral and Maxillofacial Pathology, University of Minnesota, Minneapolis, MN, USA.
² São Paulo State University (Unesp), Institute of Science and Technology, São José dos Campos, SP, Brazil.
³ King Saud University, Riyadh, Saud Arabia.
⁴ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.
⁵ Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Abstract

Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA-related overgrowth spectrum.

Keywords: PIK3CA; face; oral mucosa; overgrowth; perineurium; peripheral nerve; pseudo-onion bulbs.