Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?

Schreuder, Willem H.; Lange, Jan de; Berg, Henk van den

doi:10.1016/j.bone.2021.115935

Cited by 14 publications

(16 citation statements)

References 383 publications

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“…This also illustrates the necessity of genetic testing to distinguish conditions similar to cherubism, which might respond differently to treatment. Notably, heterogeneity in the aetiologies of giant cell lesions of the jaw, which include cherubism, has been reported (Schreuder et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, another concern is that patients in the previous case report might have been misdiagnosed with cherubism. Several other pathological entities mimic the clinical features of cherubism, including central giant cell granulomas, giant cell tumours of the jaws, fibrous dysplasia and odontogenic myxoma (Reichenberger et al, 2012; Schreuder et al, 2021). Kleiber et al reported the case of a patient with aggressive jaw swelling that mimicked cherubism (Kleiber et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

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Imatinib has minimal effects on inflammatory and osteopenic phenotypes in a murine cherubism model

et al. 2021

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Objective: Cherubism is a genetic disorder characterised by bilateral jawbone deformation. The associated jawbone lesions regress after puberty, whereas severe cases require surgical treatment. Although several drugs have been tested, fundamental treatment strategies for cherubism have not been established. The effectiveness of imatinib has recently been reported; however, its pharmaceutical mechanism remains unclear. In this study, we tested the effects of imatinib using a cherubism mouse model. Methods:We used Sh3bp2 P416R cherubism mutant mice, which exhibit systemic organ inflammation and osteopenia. The effects of imatinib were determined using primary bone marrow-derived macrophages. Imatinib was administered intraperitoneally to the mice, and serum tumour necrosis factor-α (TNFα), organ inflammation, and bone properties were examined. Results:The cherubism mutant macrophages produced higher levels of TNFα in response to lipopolysaccharide compared to wild-type macrophages, and imatinib did not significantly suppress TNFα production. Although imatinib suppressed osteoclast formation in vitro, administering it in vivo did not suppress organ inflammation and osteopenia. Conclusion:The in vivo administration of imatinib had a minimal therapeutic impact in cherubism mutant mice.To establish better pharmaceutical interventions, it is necessary to integrate new findings from murine models with clinical data from patients with a definitive diagnosis of cherubism.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Imatinib has minimal effects on inflammatory and osteopenic phenotypes in a murine cherubism model

et al. 2021

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“…68 94% of syndromic CGCL present before the age of 20. 69 Gross description. Grossly, they are non-encapsulated, comprised of red, hemorrhagic friable soft-tissue.…”

Section: Central Giant Cell Granulomamentioning

confidence: 99%

“…Overall, the mandible is the most common bone involved (22%) followed by the long bones and pelvic bones. 82,83 Gnathic desmoplastic fibromas have a mean age of 16 with no strong sex Costello syndrome 69 Cardiofacio-cutaneous syndrome 70 Cherubism 67 Jaffe-Campanacci syndrome 69 Legius syndrome (Neurofibromatosis-like syndrome) 69 Neurofibromatosis 1 71 Noonan Syndrome 69,72 Noonan syndrome with multiple lentigines/LEOPARD syndrome 72 Oculo-ectodermal syndrome 69 RAMON syndrome 69 Schimmelpenning-Feuerstein-Mims syndrome 69 predilection. 83,84 This tumor presents as an asymptomatic swelling in 72% of cases; however, facial asymmetry, tooth displacement, pain, or rapid growth may be noted in some instances.…”

Section: Desmoplastic Fibromamentioning

confidence: 99%

Pediatric Gnathic Bony and Mesenchymal Tumors

Liu

Smith²,

Patel

et al. 2023

Pediatr Dev Pathol

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Evaluation of bone pathology within the head and neck region, particularly the gnathic bonesis is complex, demonstrating unique pathologic processes. In part, this variation is due to odontogenesis and the embryological cells that may be involved, which can contribute to disease development and histologic variability. As with any boney pathosis, the key is to have clinical correlation, particularly with radiographic imaging prior to establishing a definitive diagnosis. This review will cover those entities that have a predilection for the pediatric population, and while it is not all inclusive, it should serve as a foundation for the pathologist who is evaluating bony lesions involving the craniofacial skeleton.

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“…C herubism (OMIM 118400) is a rare autosomal-dominant disease affecting the jawbones. [1][2][3] It is caused by a germline pathogenic variant in the SH3BP2 gene [4][5][6] and is classified as one of the giant cell lesions of the jaw (GCLJ). [7] Clinically, bilateral expanding inflammatory/fibrous lesions may develop during early childhood, which are expected to regress spontaneously after adolescence.…”

Section: Introductionmentioning

confidence: 99%

Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study

Schreuder,

Meijer,

Cleven

et al. 2023

Journal of Bone and Mineral Research

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Cherubism is a rare autosomal dominant disease characterized by expansile osteolytic jawbone lesions. The effect and safety of off‐label calcitonin treatment during the progressive phase of the disease are not well described. In this retrospective study, we present data on the radiological response and adverse effects of subcutaneously administered calcitonin in a cohort of nine cherubism children (3 female, 6 male). Two of the nine patients underwent two separate treatment courses with a significant off‐treatment interval in between; therefore, a total of 11 treatment courses with a mean duration of 17.9 months (range <1–35, SD 10.8) were studied. To measure response, the cumulative volume of cherubism lesions was calculated from available three‐dimensional imaging. The primary outcome was the change in the volume of lesions during calcitonin treatment and only assessed for the eight treatment courses with a minimal duration of 6 months. A statistically significant reduction in the mean cumulative volume of lesions was seen regardless of treatment duration. Average volume reduction was highest in the first half year of treatment, with a gradual, ongoing reduction thereafter. For the secondary outcome, the change in the cumulative volume of lesions after treatment cessation was assessed for the seven treatment courses with follow‐up imaging available. After six of these seven treatment courses, the cumulative volume increased again but remained undoubtedly smaller than the initial volume at the start of therapy. Adverse effects were assessed for all 11 treatment courses and occurred in 73% of them. Most adverse effects were mild and low grade, with the most severe being one grade 3 symptomatic hypocalcemia requiring hospitalization and early treatment termination. Calcitonin treatment seems effective and tolerable in treating actively progressing cherubism in children. However, further research is required to better understand the pharmacological treatment of cherubism, including also other drugs, dosing, and protocols.This article is protected by copyright. All rights reserved.

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Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?

Cited by 14 publications

References 383 publications

Imatinib has minimal effects on inflammatory and osteopenic phenotypes in a murine cherubism model

Imatinib has minimal effects on inflammatory and osteopenic phenotypes in a murine cherubism model

Pediatric Gnathic Bony and Mesenchymal Tumors

Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study

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