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Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials

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Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials. / Friedrich, Reinhard; Grob, Tobias; Hollants, Silke; Zustin, Jozef; Spaepen, Marijke; Mautner, Viktor-Felix; Lübke, Andreas; Hagel, Christian; Legius, Eric; Brems, Hilde.

In: J CRANIO MAXILL SURG, Vol. 44, No. 8, 15.05.2016, p. 1054-1060.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Friedrich, R, Grob, T, Hollants, S, Zustin, J, Spaepen, M, Mautner, V-F, Lübke, A, Hagel, C, Legius, E & Brems, H 2016, 'Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials', J CRANIO MAXILL SURG, vol. 44, no. 8, pp. 1054-1060. https://doi.org/10.1016/j.jcms.2016.05.010

APA

Friedrich, R., Grob, T., Hollants, S., Zustin, J., Spaepen, M., Mautner, V-F., Lübke, A., Hagel, C., Legius, E., & Brems, H. (2016). Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials. J CRANIO MAXILL SURG, 44(8), 1054-1060. https://doi.org/10.1016/j.jcms.2016.05.010

Vancouver

Friedrich R, Grob T, Hollants S, Zustin J, Spaepen M, Mautner V-F et al. Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials. J CRANIO MAXILL SURG. 2016 May 15;44(8):1054-1060. https://doi.org/10.1016/j.jcms.2016.05.010

Bibtex

@article{7301b687d4564192aa98ba1a70625252,
title = "Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials",
abstract = "Giant cell granuloma (GCG) of the jaw is a rare, well-known feature of neurofibromatosis type 1 (NF1), an inborn multisystem disorder. Recently, the development of GCG in NF1 was attributed to second hit mutations in the NF1 gene. The treatment of GCG is pragmatic with a preference for local curettage of lytic osseous areas. This report describes the surgical therapy of an NF1-affected female with multilocular mandibular GCG and hypodontia who additionally suffered from a brain tumour and Hashimoto{\textquoteright}s thyroiditis. Although local recurrence of GCG was noted, augmentation of the curetted cavities with a bone substitute in successive interventions successfully restored the extensive periradicular local defects and stabilised the teeth. A meticulous in vitro study of the GCG specimen revealed a second hit mutation in the NF1 gene in the GCG spindle-cells. This study contributes to the increasing knowledge of the molecular basis for GCG in the jaw of NF1 patients, indicating that it is a neoplasm.",
author = "Reinhard Friedrich and Tobias Grob and Silke Hollants and Jozef Zustin and Marijke Spaepen and Viktor-Felix Mautner and Andreas L{\"u}bke and Christian Hagel and Eric Legius and Hilde Brems",
year = "2016",
month = may,
day = "15",
doi = "10.1016/j.jcms.2016.05.010",
language = "English",
volume = "44",
pages = "1054--1060",
journal = "J CRANIO MAXILL SURG",
issn = "1010-5182",
publisher = "Elsevier",
number = "8",

}

RIS

TY - JOUR

T1 - Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials

AU - Friedrich, Reinhard

AU - Grob, Tobias

AU - Hollants, Silke

AU - Zustin, Jozef

AU - Spaepen, Marijke

AU - Mautner, Viktor-Felix

AU - Lübke, Andreas

AU - Hagel, Christian

AU - Legius, Eric

AU - Brems, Hilde

PY - 2016/5/15

Y1 - 2016/5/15

N2 - Giant cell granuloma (GCG) of the jaw is a rare, well-known feature of neurofibromatosis type 1 (NF1), an inborn multisystem disorder. Recently, the development of GCG in NF1 was attributed to second hit mutations in the NF1 gene. The treatment of GCG is pragmatic with a preference for local curettage of lytic osseous areas. This report describes the surgical therapy of an NF1-affected female with multilocular mandibular GCG and hypodontia who additionally suffered from a brain tumour and Hashimoto’s thyroiditis. Although local recurrence of GCG was noted, augmentation of the curetted cavities with a bone substitute in successive interventions successfully restored the extensive periradicular local defects and stabilised the teeth. A meticulous in vitro study of the GCG specimen revealed a second hit mutation in the NF1 gene in the GCG spindle-cells. This study contributes to the increasing knowledge of the molecular basis for GCG in the jaw of NF1 patients, indicating that it is a neoplasm.

AB - Giant cell granuloma (GCG) of the jaw is a rare, well-known feature of neurofibromatosis type 1 (NF1), an inborn multisystem disorder. Recently, the development of GCG in NF1 was attributed to second hit mutations in the NF1 gene. The treatment of GCG is pragmatic with a preference for local curettage of lytic osseous areas. This report describes the surgical therapy of an NF1-affected female with multilocular mandibular GCG and hypodontia who additionally suffered from a brain tumour and Hashimoto’s thyroiditis. Although local recurrence of GCG was noted, augmentation of the curetted cavities with a bone substitute in successive interventions successfully restored the extensive periradicular local defects and stabilised the teeth. A meticulous in vitro study of the GCG specimen revealed a second hit mutation in the NF1 gene in the GCG spindle-cells. This study contributes to the increasing knowledge of the molecular basis for GCG in the jaw of NF1 patients, indicating that it is a neoplasm.

U2 - 10.1016/j.jcms.2016.05.010

DO - 10.1016/j.jcms.2016.05.010

M3 - SCORING: Journal article

VL - 44

SP - 1054

EP - 1060

JO - J CRANIO MAXILL SURG

JF - J CRANIO MAXILL SURG

SN - 1010-5182

IS - 8

ER -