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

HGG Advances (Oct 2020)

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

Affiliations

Ioannis G. Koutlas: Division of Oral and Maxillofacial Pathology, University of Minnesota, Minneapolis, MN, USA; Corresponding author
Ana-Lia Anbinder: São Paulo State University (Unesp), Institute of Science and Technology, São José dos Campos, SP, Brazil
Rana Alshagroud: King Saud University, Riyadh, Saud Arabia
Ana Sueli Rodrigues Cavalcante: São Paulo State University (Unesp), Institute of Science and Technology, São José dos Campos, SP, Brazil
Mohammed Al Kindi: King Saud University, Riyadh, Saud Arabia
Molly M. Crenshaw: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Julie C. Sapp: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Hannah Kondolf: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Marjorie J. Lindhurst: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Jeffrey N. Dudley: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Jennifer J. Johnston: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Elyse Ryan: Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Keith Rafferty: Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Arupa Ganguly: Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Leslie G. Biesecker: Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA

Journal volume & issue: Vol. 1, no. 1
p. 100009

Abstract

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Summary: 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.

Published in HGG Advances

ISSN: 2666-2477 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics
Website: https://www.cell.com/hgg-advances/home

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