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Making sense of giant cell lesions of the jaws (GCLJ): lessons learned from next-generation sequencing.

理解颌骨巨细胞病变 (GCLJ): 新一代测序的经验教训。

  • 影响因子:5.59
  • DOI:10.1002/path.5365
  • 作者列表:"Gomes CC","Diniz MG","Bastos VC","Bernardes VF","Gomez RS
  • 发表时间:2020-02-01
Abstract

:Next-generation sequencing has revealed mutations in several bone-related lesions and was recently used to uncover the genetic basis of giant cell lesions of the jaws (GCLJ). Consistent with their benign nature, GCLJ show a low tumor mutation burden. They also harbor somatic, heterozygous, mutually exclusive mutations in TRPV4, KRAS, or FGFR1. These signature mutations occur only in a subset of lesional cells, suggesting the existence of a 'landscaping effect', with mutant cells inducing abnormal accumulation of non-mutant cells that form the tumor mass. Osteoclast-rich lesions with histological similarities to GCLJ can occur in the jaws sporadically or in association with genetically inherited syndromes. Based on recent results, the pathogenesis of a subgroup of sporadic GCLJ seems closely related to non-ossifying fibroma of long bones, with both lesions sharing MAPK pathway-activating mutations. In this review, we extrapolate from these recent findings to contextualize GCLJ genetics and we highlight the therapeutic implications of this new information. © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

摘要

: 新一代测序发现了几个骨相关病变的突变,最近被用于揭示颌骨巨细胞病变 (GCLJ) 的遗传基础。与其良性性质一致,GCLJ显示低肿瘤突变负荷。它们还在TRPV4 、KRAS或fgfr1 中携带体细胞、杂合子、互斥突变。这些标志性突变仅发生在一部分皮损细胞中,提示存在 “美化效应”,突变细胞诱导形成肿瘤团的非突变细胞异常聚集。与GCLJ组织学相似的富含破骨细胞的病变可零星发生在颌骨内,或与遗传遗传性综合征有关。基于最近的结果,散发性GCLJ亚组的发病机制似乎与长骨非骨化性纤维瘤密切相关,两个病灶共享MAPK通路激活突变。在这篇综述中,我们从这些最近的发现推断出GCLJ遗传学的背景,并强调了这一新信息的治疗意义。©2019 大不列颠及爱尔兰病理学会。由John Wiley & Sons,Ltd发布。

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DOI:10.1259/bjr.20180883
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发表时间:2020-03-01
DOI:10.1177/1078155219842277
作者列表:["Gyori DJ","Bullington SM","Crawford BS","Vernon VP"]

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影响因子:2.83
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骨肿瘤方向

骨肿瘤是发生于骨骼或其附属组织的肿瘤。有良性,恶性之分,良性骨肿瘤易根治,预后良好,恶性骨肿瘤发展迅速,预后不佳,死亡率高。

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