fibro-osseous lesion

  • 文章类型: Journal Article
    良性纤维骨性病变(BFOL)包括骨骼疾病的异质集合,其特征在于用类骨质或编织骨的纤维胶原组织代替正常骨骼,和水泥。尽管它们具有临床意义,沙特阿拉伯的BFOL频率仍需评估。
    这项回顾性研究调查了利雅得BFOL的频率和人口统计学,沙特阿拉伯,通过从单个口腔病理学实验室档案中检索1984年1月至2013年1月期间记录的所有病例。
    共有64例被归类为BFOL,女性占主导地位(67.2%),中位年龄为21.5岁。确定的最普遍的疾病是纤维发育不良(45.31%),其次是骨水泥骨化性纤维瘤(26.56%)。BFOLs之间存在显著的性别差异,p值为0.03。FD主要位于上颌骨(65.5%),而COF主要存在于下颌骨(82.3%)。在17.2%的FD患者中观察到复发,与COF患者未报告复发相反。
    这项研究代表了利雅得首次探索BFOL频率和人口统计学,沙特阿拉伯,强调需要进一步调查,以全面了解我们人群中这些病变的性质。
    UNASSIGNED: Benign fibroosseous lesions (BFOLs) encompass a heterogenous collection of bone conditions characterized by replacing normal bone with fibro-collagenous tissue with osteoid or woven bone, and cementicles. Despite their clinical significance, the frequency of BFOLs in Saudi Arabia still needs to be assessed.
    UNASSIGNED: This retrospective study investigated the frequency and demographics of BFOLs in Riyadh, Saudi Arabia, by retrieving all cases recorded between January 1984 and January 2013 from a single Oral Pathology Laboratory archive.
    UNASSIGNED: A total of 64 cases were classified as BFOLs, with a predominance in females (67.2 %) and a median age of 21.5 years. The most prevalent condition identified was fibrous dysplasia (45.31 %), followed by cemento-ossifying fibroma (26.56 %). There were significant sex differences between BFOLs, with a p-value of 0.03. FD was predominantly located in the maxilla (65.5 %), whereas COF was predominantly found in the mandible (82.3 %). Recurrence was observed in 17.2 % of patients with FD, in contrast to no reported recurrence in patients with COF.
    UNASSIGNED: This study represents the first exploration of BFOL frequency and demographics in Riyadh, Saudi Arabia, highlighting the need for further investigations to comprehensively understand the nature of these lesions in our population.
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  • 文章类型: Case Reports
    Cherubism,一种罕见的疾病,具有最重要的常染色体重要性,主要针对下颌骨,偶尔累及上颌骨。表现在童年,它通常会随着时间的推移而改善,但在成年后永远不会完全解决。临床上,它表现为骨骼的均匀扩大,当上颚受累时,它可以创造一个像小天使一样的外观,暴露于巩膜。随着体积的增长,它会导致牙齿错位等症状,牙齿萌出延迟,言语困难,牙齿脱落,除了需要医疗护理的心理和美容效果。这种疾病在年轻人中自然发展,表现出扩张的阶段,稳定,和回归。最初是在儿童早期遇到的,在早期达到顶峰,青春期前后的平衡,然后在那之后稳步后退。我们描述了一个男性患者的例子,20岁,由于担心自己的外表而寻求纠正。他有双侧下颌角和颌骨水肿。患者的审美不满情绪通过手术治疗得到满意解决,随访期间实施了进一步的药物治疗.
    Cherubism, an infrequent disorder with paramount autosomal importance, predominantly targets the mandible, with occasional involvement of the maxilla. Manifesting in childhood, it typically improves over time but never fully resolves in adulthood. Clinically, it presents as a uniform enlargement of the bones, and when the upper jaw is involved, it can create a cherub-like appearance with exposure to the sclera. As the volume grows, it can cause symptoms such as dental misalignment, delayed tooth eruption, speech difficulties, and tooth loss, in addition to psychological and cosmetic effects that require medical attention. The disorder progresses naturally in youngsters, exhibiting phases of expansion, stabilization, and regression. Cherubism initially is encountered in early childhood, reaches its peak during early years, balances out around puberty, and then steadily recedes after that. We describe the example of a male patient, age 20, who sought correction due to worries about his appearance. He had a bilateral mandibular angle and malar edema. The patient\'s aesthetic discontent was satisfactorily resolved with surgical intervention, and further pharmaceutical therapy was implemented during follow-up visits.
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  • 文章类型: Case Reports
    世界卫生组织(WHO)关于牙源性和颌面骨肿瘤分类的2022更新通过整合新的分子见解,彻底改变了诊断和治疗范式。上颌面部骨骼的纤维骨性病变构成了一个异质组,包括纤维发育不良,砂瘤样骨化性纤维瘤(PSOF),青少年骨小梁纤维化(JTOF),和其他变体。尽管组织学相似,其独特的临床表现和预后意义要求精确鉴别.诊断纤维骨病变的复杂性给病理学家带来了挑战,颌面外科医生,牙医和口腔外科医生,强调系统方法的重要性,以确保最佳的病人管理。在这里,我们提出了两个案例,纤维发育不良和Cemento骨化性纤维瘤,详细介绍他们的临床遭遇和管理策略。两位患者都提供了知情同意书来发布他们的数据和图像,坚持道德准则。
    The World Health Organization\'s (WHO) 2022 update on the classification of odontogenic and maxillofacial bone tumors has revolutionized diagnostic and treatment paradigms by integrating novel molecular insights. Fibro-osseous lesions of the maxillo-facial bones constitute a heterogeneous group encompassing fibrous dysplasia, Psammomatoid Ossifying Fibroma (PSOF), Juvenile Trabecular Ossifying Fibroma (JTOF), and other variants. Despite histological similarities, their distinct clinical manifestations and prognostic implications mandate precise differentiation. The intricacies of diagnosing fibro-osseous lesions pose challenges for pathologists, maxillofacial surgeons, dentists and oral surgeons, underscoring the importance of a systematic approach to ensure optimal patient management. Herein, we present two cases, fibrous dysplasia and Cemento-Ossifying Fibroma, detailing their clinical encounters and management strategies. Both patients provided informed consent for publishing their data and images, adhering to ethical guidelines.
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  • 文章类型: Case Reports
    骨化性纤维瘤是由牙周膜细胞引起的良性纤维骨病变。随着肿块影响下颌骨或上颌骨,病变可能会逐渐扩大。导致面部畸形和牙齿移位,尽管它是良性的。这里,我们介绍了一例18岁女性上颌骨骨化纤维瘤延伸至上颌窦,轨道下区域,和颅底,导致相当大的面部不对称。由于骨化性纤维瘤的主要治疗是手术切除,确定病变扩大的区域至关重要,其中,三维计算机断层扫描扫描可以在提供此类信息方面发挥关键作用。完整的手术切除和组织病理学检查对治疗该患者至关重要,通过细致的术前放射成像技术成为可能。
    Ossifying fibroma is a benign fibro-osseous lesion arising from the periodontal ligament cells. The lesion may progressively enlarge with the mass affecting the mandible or maxilla, resulting in facial deformities and tooth displacement despite its benign nature. Here, we presented a case of an 18-year-old female with ossifying fibroma in the maxilla extending to the maxillary sinus, infraorbital area, and skull base, resulting in considerable facial asymmetry. Since the primary treatment of ossifying fibroma is surgical resection, it is essential to determine the areas where the lesion has expanded, where a 3-dimensional computed tomography scan could play a critical role in providing such information. A complete surgical excision and histopathologic examination in treating this patient are crucial, made possible by a meticulous preoperative radio imaging technique.
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  • 文章类型: Journal Article
    颌骨的骨化性纤维瘤(COF)目前被归类为良性间充质牙源性肿瘤,并且仅使用靶向方法来评估其遗传改变。最小比例的COFs携带CDC73体细胞突变,最近在一小部分病例中报道了涉及7号和12号染色体的拷贝数改变(CNA)。然而,COFs的遗传背景仍然模糊。我们使用了全外显子组测序(WES)和RNA测序(RNAseq)的组合来评估体细胞突变,融合转录物,和CNA在一组12个新收集的COF中。在RNAseq成功分析的5例病例中,没有发现复发性融合,在两种情况下检测到帧内融合(一种情况为MARS1::GOLT1B和PARG::BMS1,和NCLN::FZR1和NFIC::SAMD1在另一个),其余三例没有确定候选融合。在11例发生WES的病例中未检测到复发性致病性突变。在一个病例中检测到KRASp.L19F错义变体,在另一个病例中检测到两个CDC73缺失。其他变体具有不确定的意义,包括PC中的变体,ACTB,DOK6,HACE1,COL1A2和PTPN14,ATP5F1C中以前未报道的变体,APOBEC1,HDAC5,ATF7IP,PARP2和ACTR3B。受影响的基因不明显收敛于任何信号通路。在5/11(45%)病例中检测到CNAs,涉及12号染色体的拷贝增加发生在3/11(27%)。总之,在目前的COF队列中未检测到复发性融合或致病变异,27%的病例涉及12号染色体的拷贝增加。
    Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor, and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background of COFs remains obscure. We used a combination of whole-exome sequencing and RNA sequencing to assess somatic mutations, fusion transcripts, and CNAs in a cohort of 12 freshly collected COFs. No recurrent fusions have been identified among the 5 cases successfully analyzed by RNA sequencing, with in-frame fusions being detected in 2 cases (MARS1::GOLT1B and PARG::BMS1 in one case and NCLN::FZR1 and NFIC::SAMD1 in the other case) and no candidate fusions identified for the remaining 3 cases. No recurrent pathogenic mutations were detected in the 11 cases that had undergone whole-exome sequencing. A KRAS p.L19F missense variant was detected in one case, and 2 CDC73 deletions were detected in another case. The other variants were of uncertain significance and included variants in PC, ACTB, DOK6, HACE1, and COL1A2 and previously unreported variants in PTPN14, ATP5F1C, APOBEC1, HDAC5, ATF7IP, PARP2, and ACTR3B. The affected genes do not clearly converge on any signaling pathway. CNAs were detected in 5/11 cases (45%), with copy gains involving chromosome 12 occurring in 3/11 cases (27%). In conclusion, no recurrent fusions or pathogenic variants have been detected in the present COF cohort, with copy gains involving chromosome 12 occurring in 27% of cases.
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  • 文章类型: Case Reports
    神经根囊肿,也称为根尖周囊肿或根端囊肿,是一种牙源性囊肿,通常与恒牙有关。根性囊肿通常与上颌中切牙相关,其次是下颌第一磨牙。它是由于细菌感染和牙髓坏死而发生的,这导致沿着牙齿的牙周膜区域的Malassez上皮细胞的炎症刺激。大多数根性囊肿病例无症状,在常规影像学检查中被意外诊断出来。本文介绍了一例42岁男性与上颌前区相关的根尖牙周囊肿的病例报告。早期诊断和治疗计划是必要的。本文指出了外科医生在囊肿的早期诊断和治疗计划中的作用。
    A radicular cyst, also known as a periapical cyst or root end cyst, is a type of odontogenic cyst that is typically associated with permanent teeth. The radicular cyst usually is associated with maxillary central incisors followed by mandibular first molars. It occurs as a result of bacterial infection and pulpal necrosis which leads to inflammatory stimulation of the epithelial cell rests of Malassez along the periodontal ligament area of the tooth. Most cases of the radicular cyst are asymptomatic and they are diagnosed accidentally during routine radiographic examination. This article presents a case report of a 42-year-old male with an apical periodontal cyst associated with the maxillary anterior region. Early diagnosis and treatment planning is necessary. This article signifies the role of the surgeon in the early diagnosis and treatment plan of the cyst.
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  • 文章类型: Journal Article
    骨性发育不良(COD)属于良性纤维骨性病变的范围,仅发生在颌骨的牙齿支撑区域。根据参与的地点和程度,根尖周,可以区分具有相同组织形态的局灶性和花语亚型。大多数病例是无症状的,并且遵循不需要特殊治疗的自限病程。随着时间的推移,病变逐渐矿化,而细胞减少。然而,COD的分子发病机制,尚未探索。我们通过靶向测序分析了一系列31个COD样品,并在5/18个可评估病例(28%)中检测到涉及RAS-MAPK信号通路的致病热点突变。在BRAF中发现了突变,HRAS,KRAS,NRAS,和FGFR3基因。我们的研究结果表明,COD是由RAS-MAPK激活驱动的;然而,通常发生在大多数病变中的自发生长停滞的潜在机制仍然难以捉摸。
    Cemento-osseous dysplasia (COD) belongs to the spectrum of benign fibro-osseous lesions occurring exclusively in the tooth-bearing areas of the jaws. Depending on site and extent of involvement, periapical, focal and florid subtypes can be distinguished that share an identical histomorphology. Most cases are asymptomatic and follow a self-limited course requiring no specific treatment. Over time, lesions progressively mineralise while the cellularity decreases. However, the molecular pathogenesis of COD, has not yet been explored. We analysed a series of 31 COD samples by targeted sequencing and detected pathogenic hotspot mutations involving the RAS-MAPK signalling pathway in 5/18 evaluable cases (28%). The mutations were found in the BRAF, HRAS, KRAS, NRAS, and FGFR3 genes. Our findings suggest that COD is driven by RAS-MAPK activation; however, the mechanism underlying the spontaneous growth arrest typically occuring in most of the lesions remains elusive.
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  • 文章类型: Case Reports
    纤维软骨间质瘤(FM)是一种罕见的骨肿瘤,在影像学和组织学上模仿其他纤维软骨病变。因此,很难诊断这个实体,特别是在小活检。在这篇文章中,我们报告一例FM在活检中模仿纤维增生性纤维瘤。一名36岁男性出现左髋部疼痛。影像学检查显示,涉及髋臼和耻骨的大型膨胀性溶解性病变。鉴别诊断考虑巨细胞瘤,动脉瘤样骨囊肿,骨内纤维增生性纤维瘤,和软骨肉瘤.活检显示低度梭形细胞病变,没有骨样或软骨样基质的证据。活检中软骨结节的缺乏促使术前诊断为纤维增生性纤维瘤。切除的肿块显示梭形细胞增殖平淡,良性软骨结节,骨phy板状内膜骨化提示纤维软骨性间膜瘤。SATB2,CDK4和MDM2免疫染色阴性排除了低度中央骨肉瘤。尽管在这种情况下没有进行GNAS突变,骨phy生长板状软骨结节周围的骨小梁边缘排除了纤维发育不良。在小活检中,软骨成分的缺失会误导术前诊断。
    Fibrocartilaginous mesenchymoma (FM) is a rare bone tumor mimicking other fibrocartilaginous lesions on imaging and histologically. Hence, it is difficult to diagnose this entity especially on small biopsies. In this article, we report a case of FM mimicking desmoplastic fibroma on biopsy. A 36-year-old male presented with pain in the left hip. Imaging showed a large expansile lytic lesion involving the acetabulum and pubis. The differential diagnosis was suggestive of giant cell tumor, aneurysmal bone cyst, intraosseous desmoplastic fibroma, and chondrosarcoma. Biopsy revealed a low-grade spindle cell lesion with no evidence of osteoid or chondroid matrix. The lack of cartilaginous nodules in the biopsy prompted a preoperative diagnosis of desmoplastic fibroma. The excised mass showed bland spindle cell proliferation, benign cartilage nodules, and epiphyseal plate-like enchondral ossification suggestive of fibrocartilaginous mesenchymoma. Negative immunostaining for SATB2, CDK4, and MDM2 ruled out low-grade central osteosarcoma. Though GNAS mutations were not performed in this case, rimming of the bony trabeculae at the periphery of the epiphyseal growth plate-like cartilaginous nodule ruled out fibrous dysplasia. The absence of cartilaginous component misleads the diagnosis preoperatively in small biopsies.
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  • 文章类型: Journal Article
    背景纤维骨(FO)病变是鼻旁窦中生长缓慢的良性病变。它们包括骨瘤,纤维发育不良(FD),和骨化纤维瘤(OF)。纤维骨(FO)病变通常无症状,它们是在成像时偶然发现的。它们的特点是不同的组织学,放射学,和临床变异。根据症状,尺寸,location,和延伸,这些病变的治疗策略差异很大.目的我们的目的是比较年龄,发病,性别,临床表现,术后改善,和鼻旁窦纤维骨性病变的并发症。方法回顾性分析诊断为纤维骨良性病变的患者,在Aseer中心医院接受功能性内窥镜鼻窦手术(FESS)的403例患者中,沙特阿拉伯王国,从2013年1月到2022年1月进行了审查。结果共发现7例患者,5例患者诊断为骨瘤,还有两人被诊断为纤维发育不良。无骨化性纤维瘤病例。患者平均年龄为25.5±12.9岁。四名(57.1%)患者为男性,三名(42.9%)为女性,男女比例为1.25:1。最常见的部位是额窦和筛窦,两例纤维发育不良病例几乎累及所有面部骨骼。选择经鼻内镜入路治疗所有7例患者。结论发病年龄存在差异,location,骨瘤和纤维发育不良患者的术后并发症。骨瘤最常见于额窦,在我们的研究中,纤维发育不良涉及所有面部骨骼。内镜手术是目前治疗的主要策略。
    Background Fibro-osseous (FO) lesions are slow-growing benign lesions in the paranasal sinuses. They include osteomas, fibrous dysplasia (FD), and ossifying fibro-ma (OF). Fibro-osseous (FO) lesions are frequently asymptomatic, and they are incidentally found on imaging. They are characterized by different histological, radiological, and clinical variants. Depending on symptoms, size, location, and extension, the treatment strategy varies significantly for these lesions. Objective We aim to compare the age, onset, gender, clinical presentation, postoperative improvement, and complications of a fibro-osseous lesion in the paranasal sinuses. Methods A retrospective analysis was done targeting patients diagnosed with benign fibro-osseous (FO) lesions, and the incidence among 403 patients who underwent functional endoscopic sinus surgery (FESS) at Aseer Central Hospital, Kingdom of Saudi Arabia, was reviewed from January 2013 to January 2022. Results A total of seven patients were found; five patients were diagnosed with osteoma, and two were diagnosed with fibrous dysplasia. There were no ossifying fibroma cases. The patients\' mean age was 25.5 ± 12.9 years old. Four (57.1%) patients were males, and three (42.9%) were females, with a male/female ratio of 1.25:1. The most common locations were the frontal sinus and ethmoid sinus, and the two cases of fibrous dysplasia involved almost all facial bones. The endonasal endoscopic approach was chosen to treat all seven patients. Conclusions There are differences in the onset age, location, and complications postoperatively among osteoma and fibrous dysplasia patients. Osteoma most commonly occurs in the frontal sinus, while fibrous dysplasia involved all facial bones in our study. Endoscopic surgery is currently the primary strategy for treatment.
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  • 文章类型: Journal Article
    Cemento骨化纤维瘤(COF)是一种包膜病变,常见于中年女性的下颌骨。囊性变性可能与几种骨性病变有关。这种特殊的表现在钳口中没有很好的记载。
    方法:患者因全景X线检查右侧下颌骨的放射不透性异常而被转诊至口腔外科。患者没有任何特定病史,并报告右下颌区域疼痛区域。在诊断评估期间,首先考虑成釉细胞瘤是由于囊性病变簇的存在。但是先前X射线中的混合图像指出了一个纤维骨,其发病途径发生了变化。诊断是基于以前的X光片,在进行进一步检查(CBCT)或治疗(减压或摘除术)之前,建议进行切开活检以确定病变的组织病理学特征。与非特异性囊性改变相关的颌骨的COF是组织病理学诊断。治疗延迟显示出意想不到的结果,具有良好的临床和骨愈合。
    这种情况表明了以前的射线照片的重要性,当可用时,在诊断积累中。具有囊性改变的纤维骨性病变通过保守治疗可能显示出良好的生物学反应。保守治疗后的临床和放射学监测可能是治疗这些病变的更好选择。
    UNASSIGNED: Cemento ossifying fibroma (COF) is an encapsulated lesion that is often found in the mandible of middle-aged females. Cystic degeneration may be associated to several osseous lesion. This particular presentation is not well documented in the jaws.
    METHODS: Patient presented was referred to oral surgery department for abnormal radiolucency in the right mandible on panoramic X-ray. The patient did not have any specific medical history and reported painful areas in right mandibular region. During diagnosis assessment, ameloblastoma was first considered due to the presence of cystic lesion clusters. But the mixed image in previous X-ray pointed to a fibro-osseous with a change in pathogenesis pathway. Diagnosis buildup was based on previous radiographs, incisional biopsy was proposed to identify the histopathological feature of the lesion before proceeding to further investigation (CBCT) or treatments (decompression or enucleation). COF of the jaws associated to non-specific cystic changes was the histopathological diagnosis. Delay in treatment showed an unexpected outcome with good clinical and bone healing.
    UNASSIGNED: This case shows the importance of previous radiographs, when available, in diagnosis buildup. The fibro-osseous lesion with cystic change may show a good biological response with conservative management. A clinical and radiological surveillance after a conservative treatment may be a better option in treatment of these lesions.
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