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

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

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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.

Original language	English (US)
Article number	100009
Journal	Human Genetics and Genomics Advances
Volume	1
Issue number	1
DOIs	https://doi.org/10.1016/j.xhgg.2020.100009
State	Published - Oct 22 2020

Bibliographical note

Funding Information:
The research was partially funded by the Oral Pathology Research Fund, University of Minnesota, School of Dentistry. The authors are grateful to Mr. Brian Dunnette of the University of Minnesota for his assistance with the illustrations.

Publisher Copyright:
© 2020 The Author(s)

Keywords

PIK3CA
face
oral mucosa
overgrowth
perineurium
peripheral nerve
pseudo-onion bulbs

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10.1016/j.xhgg.2020.100009

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Koutlas, I. G., Anbinder, A. L., Alshagroud, R., Rodrigues Cavalcante, A. S., Al Kindi, M., Crenshaw, M. M., Sapp, J. C., Kondolf, H., Lindhurst, M. J., Dudley, J. N., Johnston, J. J., Ryan, E., Rafferty, K., Ganguly, A., & Biesecker, L. G. (2020). Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum. Human Genetics and Genomics Advances, 1(1), Article 100009. https://doi.org/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. / Koutlas, Ioannis G.; Anbinder, Ana Lia; Alshagroud, Rana et al.
In: Human Genetics and Genomics Advances, Vol. 1, No. 1, 100009, 22.10.2020.

Research output: Contribution to journal › Article › peer-review

Koutlas, IG, Anbinder, AL, Alshagroud, R, Rodrigues Cavalcante, AS, Al Kindi, M, Crenshaw, MM, Sapp, JC, Kondolf, H, Lindhurst, MJ, Dudley, JN, Johnston, JJ, Ryan, E, Rafferty, K, Ganguly, A & Biesecker, LG 2020, 'Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum', Human Genetics and Genomics Advances, vol. 1, no. 1, 100009. https://doi.org/10.1016/j.xhgg.2020.100009

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

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.",

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note = "Funding Information: The research was partially funded by the Oral Pathology Research Fund, University of Minnesota, School of Dentistry. The authors are grateful to Mr. Brian Dunnette of the University of Minnesota for his assistance with the illustrations. Publisher Copyright: {\textcopyright} 2020 The Author(s)",

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AU - Anbinder, Ana Lia

AU - Alshagroud, Rana

AU - Rodrigues Cavalcante, Ana Sueli

AU - Al Kindi, Mohammed

AU - Crenshaw, Molly M.

AU - Sapp, Julie C.

AU - Kondolf, Hannah

AU - Lindhurst, Marjorie J.

AU - Dudley, Jeffrey N.

AU - Johnston, Jennifer J.

AU - Ryan, Elyse

AU - Rafferty, Keith

AU - Ganguly, Arupa

AU - Biesecker, Leslie G.

N1 - Funding Information: The research was partially funded by the Oral Pathology Research Fund, University of Minnesota, School of Dentistry. The authors are grateful to Mr. Brian Dunnette of the University of Minnesota for his assistance with the illustrations. Publisher Copyright: © 2020 The Author(s)

PY - 2020/10/22

Y1 - 2020/10/22

N2 - 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.

AB - 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.

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KW - peripheral nerve

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

Abstract

Bibliographical note

Keywords

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