Central giant-cell granuloma in a patient with neurofibromatosis type 1: 7 years of follow-up.

IF 0.9 Q3 DENTISTRY, ORAL SURGERY & MEDICINE
Michelle Briner Garrido, Rohan Jagtap, Christopher D Matesi, Vivian Diaz, John Hardeman, Anita Gohel
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引用次数: 0

Abstract

Neurofibromatosis type 1 (NF1) is an autosomally dominant tumor suppressor syndrome and multisystem disease. Central giant-cell granulomas (CGCGs) can be seen in patients with NF1. A 21-year-old female was diagnosed with two CGCGs, one in the mandible and then one in the maxilla, in a 7-year period. Increased incidence of CGCGs in NF1 patients was thought to be caused by an underlying susceptibility to developing CGCG-like lesions in qualitatively abnormal bone, such as fibrous dysplasia. However, germline and somatic truncating second-hit mutations in the NF1 gene have been detected in NF1 patients with CGCGs, validating that they are NF1-associated lesions. Oral manifestations in patients with NF1 are very common. Knowledge of these manifestations and the genetic link between NF1 and CGCGs will enhance early detection and enable optimal patient care.

一名 1 型神经纤维瘤病患者的中央巨细胞肉芽肿:7 年随访。
神经纤维瘤病 1 型(NF1)是一种常染色体显性抑瘤综合征和多系统疾病。NF1 患者可出现中央巨细胞肉芽肿(CGCG)。一名 21 岁的女性在 7 年内被诊断出患有两个 CGCG,一个在下颌骨,另一个在上颌骨。人们认为,NF1患者CGCG发病率增高的原因是其潜在的易感性,即在质地异常的骨骼(如纤维发育不良)中容易发生CGCG样病变。然而,在患有 CGCG 的 NF1 患者中发现了 NF1 基因的种系突变和体细胞截断二次突变,这验证了 CGCG 是 NF1 相关病变。NF1 患者的口腔表现非常常见。了解这些表现以及 NF1 和 CGCG 之间的遗传联系将有助于早期发现并优化患者护理。
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来源期刊
CiteScore
2.00
自引率
10.00%
发文量
0
期刊介绍: Journal of the Korean Association of Oral and Maxillofacial Surgeons (J Korean Assoc Oral Maxillofac Surg) is the official journal of the Korean Association of Oral and Maxillofacial Surgeons. This bimonthly journal offers high-quality original articles, case series study, case reports, collective or current reviews, technical notes, brief communications or correspondences, and others related to regenerative medicine, dentoalveolar surgery, dental implant surgery, head and neck cancer, aesthetic facial surgery/orthognathic surgery, facial injuries, temporomandibular joint disorders, orofacial disease, and oral pathology. J Korean Assoc Oral Maxillofac Surg is of interest to oral and maxillofacial surgeons and dental practitioners as well as others who are interested in these fields.
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