Pineoblastoma Without Retinal Tumors in a Patient With a Mosaic Retinoblastoma Pathogenic Variant

This case report describes a diagnosis of pineoblastoma in a child with a retinoblastoma pathogenic variant who presented with increasing head circumference and language and motor delay.

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Bibliographische Detailangaben
Veröffentlicht in:	Archives of ophthalmology (1960) 2022-04, Vol.140 (4), p.437-439
Hauptverfasser:	Mustafi, Debarshi, Waligorski, Natalie, Paulson, Vera, Cole, Bonnie, Crotty, Erin E, Stacey, Andrew W
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain cancer Brain Neoplasms - diagnosis Brain Neoplasms - genetics Brain Neoplasms - pathology Cancer Eye diseases Humans Infant Neoplasia Pineal gland Pineal Gland - diagnostic imaging Pineal Gland - pathology Pinealoma - diagnosis Pinealoma - genetics Pinealoma - pathology Retina Retinal Neoplasms - diagnosis Retinal Neoplasms - genetics Retinal Neoplasms - pathology Retinoblastoma Retinoblastoma - diagnosis Retinoblastoma - genetics Retinoblastoma - pathology Tumors
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Beschreibung
Zusammenfassung:	This case report describes a diagnosis of pineoblastoma in a child with a retinoblastoma pathogenic variant who presented with increasing head circumference and language and motor delay.
ISSN:	2168-6165 2168-6173
DOI:	10.1001/jamaophthalmol.2022.0170