A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome

Central giant cell granuloma (CGCG) is a rare disease characterized by sporadic, benign, intraosseous mandibular lesions of unknown etiology. Histologically, these lesions are indistinguishable from brown tumors of hyperparathyroidism and cherubism, and occasionally have been associated with differe...

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Autores principales: Shum, Betty J., Kim, Mimi S., Kondra, Katelyn, Hammoudeh, Jeffrey A., Strom, Charles, Ryabets-Lienhard, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513564/
https://www.ncbi.nlm.nih.gov/pubmed/36154495
http://dx.doi.org/10.1177/23247096221123146
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author Shum, Betty J.
Kim, Mimi S.
Kondra, Katelyn
Hammoudeh, Jeffrey A.
Strom, Charles
Ryabets-Lienhard, Anna
author_facet Shum, Betty J.
Kim, Mimi S.
Kondra, Katelyn
Hammoudeh, Jeffrey A.
Strom, Charles
Ryabets-Lienhard, Anna
author_sort Shum, Betty J.
collection PubMed
description Central giant cell granuloma (CGCG) is a rare disease characterized by sporadic, benign, intraosseous mandibular lesions of unknown etiology. Histologically, these lesions are indistinguishable from brown tumors of hyperparathyroidism and cherubism, and occasionally have been associated with different syndromes raising a question for genetic etiology. The CGCG has varied presentation ranging from nonaggressive and indolent to aggressive, destructive, and recurrent, often posing diagnostic and therapeutic challenges. Herein, we present the first case of a 10-year-old boy with CGCG and 16p13.11 microdeletion syndrome, highlight the diagnostic challenges inherent to this heterogeneous disorder, and discuss the genetics and treatment approaches of these complex lesions.
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spelling pubmed-95135642022-09-28 A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome Shum, Betty J. Kim, Mimi S. Kondra, Katelyn Hammoudeh, Jeffrey A. Strom, Charles Ryabets-Lienhard, Anna J Investig Med High Impact Case Rep Case Report Central giant cell granuloma (CGCG) is a rare disease characterized by sporadic, benign, intraosseous mandibular lesions of unknown etiology. Histologically, these lesions are indistinguishable from brown tumors of hyperparathyroidism and cherubism, and occasionally have been associated with different syndromes raising a question for genetic etiology. The CGCG has varied presentation ranging from nonaggressive and indolent to aggressive, destructive, and recurrent, often posing diagnostic and therapeutic challenges. Herein, we present the first case of a 10-year-old boy with CGCG and 16p13.11 microdeletion syndrome, highlight the diagnostic challenges inherent to this heterogeneous disorder, and discuss the genetics and treatment approaches of these complex lesions. SAGE Publications 2022-09-24 /pmc/articles/PMC9513564/ /pubmed/36154495 http://dx.doi.org/10.1177/23247096221123146 Text en © 2022 American Federation for Medical Research https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Shum, Betty J.
Kim, Mimi S.
Kondra, Katelyn
Hammoudeh, Jeffrey A.
Strom, Charles
Ryabets-Lienhard, Anna
A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome
title A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome
title_full A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome
title_fullStr A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome
title_full_unstemmed A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome
title_short A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome
title_sort unique case of aggressive central giant cell granuloma in a 10-year-old boy with 16p13.11 microdeletion syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9513564/
https://www.ncbi.nlm.nih.gov/pubmed/36154495
http://dx.doi.org/10.1177/23247096221123146
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