愈合期非骨化性纤维瘤的影像学表现

目的探讨愈合期非骨化性纤维瘤影像学诊断及其临床意义。方法对10例经随访观察和手术病理(2例)确认的愈合期或愈合型非骨化性纤维瘤的影像学表现进行分析。所有病例经X线摄影,4例经CT检查,1例行MRI。结果10例均发生在下肢长骨,胫骨8例,股骨2例。5例表现为均匀的硬化灶,5例在硬化灶中心存有透光区。5例分别经随访观察1~4年无变化。结论非骨化性纤维瘤可于青春期演变为硬化性的静止性病变而达到自愈。愈合期或愈合型非骨化性纤维瘤不需要手术治疗。     

长骨非骨化性纤维瘤的CT表现与病理基础

目的 探讨非骨化性纤维瘤的CT表现及其病理基础的相关性。资料与方法 回顾性分析13例经手术病理证实的非骨化性纤维瘤患者的螺旋CT表现，并将之与手术病理对照研究。结果 13例病灶均发生于干骺端，表现为累及骨皮质的偏侧性、膨胀性骨质破坏，CT值58～72HU，其内可见残留的骨嵴；病灶突人髓腔，并与之间以菲薄的骨质。多平面重建(MPR)图像显示病灶沿患骨长轴扩展，呈椭圆形。手术直视瘤体为菲薄骨皮质包绕的灰黄色或褐黄色组织，镜下由旋涡样排列的梭形细胞、胶原纤维束构成，其间散在多核巨细胞和泡沫细胞，无成骨组织。结论 螺旋CT能够细致、准确地反映非骨化性纤维瘤的病理学特征。     

Neurofibromatosis 1 and osseous fibrous dysplasia in a family

We report on the consegregation of neurofibromatosis 1 (NF 1) and osseous fibrous dysplasia in a family. The father and 3 children by 2 women are affected. A fourth child had neither NF 1 nor osseous fibrous dysplasia. All 4 affected individuals had NF 1, i.e., caféau-lait spots in 4, neurofibromata in 4, Lisch nodules in 3, macrocrania in 3, scoliosis in 2, and curvature of the long bones in 2. Each demonstrated various fibroosseous lesions of the skeleton including non-ossifying fibromas in 3 and both non-ossifying fibromas and fibrous dysplasia in one. This pattern suggests that the fibrous bony lesions are a component of NF 1 in this family. Alternatively, a mutant gene resulting in the fibrous changes in bone could be linked to the gene for NF 1. Another possibility is the coincidence of the 2 non-linked traits segregating in the same family. © 1992 Wiley-Liss, Inc.     

非骨化性纤维瘤的诊断与治疗

目的 :探讨非骨化性纤维瘤的本质和属性、临床特点及诊治方法。方法 :总结 1993～ 1999年收治的非骨化性纤维瘤 2 4例。其中男 16例 ,女 8例 ,平均 15 .6岁。多发性 2例 ,合并其他良性肿瘤 2例。病灶多发生于四肢长骨的干骺端 ,以膝关节周围最常见。全部病例均行手术治疗 ,术式包括单纯病灶刮除术、病灶刮除自体髂骨或加异体骨移植术。结果 :全部病例均经病理证实为非骨化性纤维瘤 ,随访最长 6a 3个月 ,无一例复发。结论 :该瘤的病因和本质尚不明确 ,从病理组织学、临床过程和生物学行为特点来看 ,应视为骨纤维细胞来源的良性肿瘤。诊断上应与纤维性皮质骨缺陷以及其他良性骨肿瘤和瘤样病变相鉴别。该瘤经手术病灶刮除植骨后 ,多数预后良好。     

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

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.     

非骨化性纤维瘤的影像学诊断

目的分析非骨化性纤维瘤的CR、CT及MRI表现及诊断价值,旨在提高诊断水平。方法回顾分析19例非骨化性纤维瘤的CR、CT及MRI表现,全部经穿刺或手术病理证实。结果非骨化纤维瘤发生在股骨8例,胫骨6例,腓骨与肱骨各2例,髂骨1例。CR及CT表现为囊状骨质缺损,边缘有硬化,内含软组织密度,无钙化。MRI表现为T1WI稍低或低信号,T2WI低信号,少部分T2WI为稍高信号,无软组织肿块。结论CR CT与MRI三者综合分析,对非骨化性纤维瘤有较高诊断价值。