Non-ossifying Fibroma Research Articles

Interobserver Variability in the Differential Diagnosis of Benign Bone Tumors and Tumor-like Lesions.

The interobserver-variability of radiological diagnosis of benign bone tumors (BBT) and tumor-like lesions (TLL) was examined in order to identify difficult-to-diagnose entities, to examine the frequency of advanced diagnostics and to describe the number of interdisciplinary tumor center diagnoses (IDT) in comparison with diagnoses upon referral (ED) and radiologists´ diagnoses (RD). We retrospectively reviewed 413 patients with 272 BBT and 141 TLL, classified either histologically or through interdisciplinary consultation. Discrepancies between groups were analyzed and rates of additional imaging and biopsy to establish diagnosis were assessed. In BBT the number of identical radiological diagnoses was 56 (ED) and 81 % (RD) compared to the IDT, while in the latter additional imaging were obtained in 30 % cases. In 21 % (12 % to establish diagnosis) BBT were biopsied, the ED matching the histology 40 %, the RD 60 % and the IDT 76 % of the time. For TLL diagnosed through radiology, ED and RD matched IDT 31 % and 61 % of the time, with additional imaging being obtained in 21 % of cases (IDT). In 36 % (27 % to establish diagnosis) biopsy was performed, with histological diagnosis matching the IDT, RD and ED in 51, 27 and 20 %. Diagnostic challenges were apparent in enchondromas, non-ossifying fibromas (NOF), solitary (SBC) and aneurysmal bone cysts (ABC). Ganglia can be misinterpreted as a tumor. Establishing a definitive diagnosis for BBT and TLL can be challenging with the latter posing greater difficulties. An interdisciplinary approach involving radiologists, orthopedics and pathologists was found to improve diagnostic accuracy. • Benign bone tumors (BBT) and tumor-like lesions (TLL) present a diagnostic challenge, while enchondroma, NOF, SBC and ABC were difficult to diagnose, and ganglia can be misinterpreted as a tumor• Additional imaging studies were required for diagnosis in 29 % and 21 % of cases for BBT and TLL, respectively, biopsies in 12 % of cases for BBT and 27 % for TLL• Sound diagnoses can be made through interdisciplinary case discussion, while reducing the risk of overtreatment Citation Format: • Scheitza P, Uhl M, Hauschild O et al. Interobserver Variability in the Differential Diagnosis of Benign Bone Tumors and Tumor-like Lesions. Fortschr Röntgenstr 2016; 188: 479 - 487.

Non-ossifying fibroma (metaphyseal fibrous defect)

Non-ossifying fibroma (NOF) or metaphyseal fibrous defect (MFD) is benign fibroblast proliferation with the presence of osteoclast-like multinucleated giant cells. The most cases of NOF/MFD occur in the metaphysis of the long tubular bones of the lower extremities, more commonly in the metaphysis of the femur and in the proximal metaphysis of the tibia. This lesion has a characteristic X-ray pattern and requires no surgical intervention, except for cases of a pathologic fracture or a risk for the latter. The paper analyzes 35 NOF/MFD cases in children and adolescents. It has been found that one and all patients have undergone surgery, suggesting the low awareness of this abnormality among radiodiagnosticians, pathologists, and surgeons.

Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report.

A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation was not found. Her height was under the 3rd percentile and her bone age was delayed as compared with her chronological age. Baseline growth hormone (GH) level was below the normal range. Using the insulin stimulation and levo-dihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS.

Benign fibrohistyocytoma of maxilla: a case report

Background: Benign fibrous histiocytoma (BFH) is a soft tissue neoplasm. Till date, a single case has been described with histological features of bony BFH in maxilla. Although the lesion shares similar histologic features with fibrous cortical defect, and nonossifying fibroma, they differ in their behaviour and clinical and radiographic presentations. We describe another case with Benign Fibrous Histiocytoma in maxilla.

Giant nonossifying fibroma in a patient with Dyggve-Melchior-Clausen syndrome

Giant nonossifying fibroma in a patient with Dyggve-Melchior-Clausen syndrome

Indeterminate bone lesion: the diagnosis

The diagnostic approach is statistical[1,2]. Age is important: before 5 years old, malignant tumour is almost always metastatic neuroblastoma; between 5 and 15 years old, it is often osteosarcoma or Ewing’s sarcoma; after 40 years old, it tends to be metastasis or myeloma. Clinical symptoms vary little and are most often pain and swelling. Although fever suggests infection, it may also be found in Ewing’s sarcoma. The first step in the evaluation of a tumour is to determine its aggressiveness by conventional radiology. Important parameters include the tumour size, type of matrix, and periosteal reaction. Certain tumours are more common in particular bones. Adamantinoma, usually found in the adult, selectively involves the tibia and fibula. The most common epiphyseal tumour in childhood is the chondroblastoma. In addition, the aggressiveness of some tumours may relate to their location in the axial or appendicular skeleton: in the hand, cartilaginous tumours are almost always benign, whereas in the pelvis, they are often malignant. If necessary, multiple lesions may be estimated with bone scanning. Multiple lesions are seen in chondromas, osteochondromas, histiocytosis X and metastases. The first necessary step is to definitively diagnose benign lesions based on clinical and radiologic signs, and for which biopsy is not necessary. These lesions are fibrous cortical defect, non-ossifying fibroma, periosteal desmoid, fibrous dysplasia, osteochondroma or exostoses, chondroma, simple bone cyst, vertebral angiomas and myositis ossificans. Diagnosis may be difficult. In these cases, the next step is CT. Problems can result from bone locations which are difficult to evaluate on conventional X-ray (short, flat bones especially the pelvis, sacrum, sternum, and vertebrae). Sometimes, the study of the tumour matrix can provide features necessary for the diagnosis. It can be fluid density, small calcifications allowing diagnosis of cartilaginous tumour, osteoid matrix, or fat[3]. CT is the examination of choice in the diagnosis of the nidus of osteoid osteoma in dense bone[4]. Small lytic lesions of the cortex, localized involvement of the soft tissues and thin peripheral periosteal reaction can be seen; lesions with slow evolution which displace and expand the cortex peripherally can be distinguished from more aggressive lesions which cross the cortex. CT can show the tumour on both sides of the cortex before it is destroyed. This is the case for Ewing sarcomas and osteosarcomas[5]. CT allows measurement of the thickness of a non-calcified cuff of a cartilaginous tumour: the cuff is thin in benign lesions and thick (more than 3 cm) in chondrosarcomas[6,7]. In other cases, evidence favours a malignant lesion. Examination for metastases, and MRI examination before biopsy, must be performed.

Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.

Driver mutations in the two histone 3.3 (H3.3) genes, H3F3A and H3F3B, were recently identified by whole genome sequencing in 95% of chondroblastoma (CB) and by targeted gene sequencing in 92% of giant cell tumour of bone (GCT). Given the high prevalence of these driver mutations, it may be possible to utilise these alterations as diagnostic adjuncts in clinical practice. Here, we explored the spectrum of H3.3 mutations in a wide range and large number of bone tumours (n = 412) to determine if these alterations could be used to distinguish GCT from other osteoclast‐rich tumours such as aneurysmal bone cyst, nonossifying fibroma, giant cell granuloma, and osteoclast‐rich malignant bone tumours and others. In addition, we explored the driver landscape of GCT through whole genome, exome and targeted sequencing (14 gene panel). We found that H3.3 mutations, namely mutations of glycine 34 in H3F3A, occur in 96% of GCT. We did not find additional driver mutations in GCT, including mutations in IDH1, IDH2, USP6, TP53. The genomes of GCT exhibited few somatic mutations, akin to the picture seen in CB. Overall our observations suggest that the presence of H3F3A p.Gly34 mutations does not entirely exclude malignancy in osteoclast‐rich tumours. However, H3F3A p.Gly34 mutations appear to be an almost essential feature of GCT that will aid pathological evaluation of bone tumours, especially when confronted with small needle core biopsies. In the absence of H3F3A p.Gly34 mutations, a diagnosis of GCT should be made with caution.

Non Ossifying Fibroma of the Mandible

The non ossifying fibroma (NOF) is a benign neoplastic lesion most commenly seen in the long bones in children. NOF of the mandible is rare. We report a case of NOF in the mandible of a 12 years-old boy and describe clinical, radiological and histologic feathures.

May Image Quiz: Non‐Ossifying Fibroma

May Image Quiz: Non‐Ossifying Fibroma

Desmoplastic fibroma of the ulna bone.

A fibroma is a benign tumour composed of fibrous connective tissue and they can grow in all organs. They can be classified based on consistency into hard or soft fibroma, based on histological characteristics into desmoplastic, chondromyxoid, ossifying, non-ossifying fibroma. They can also be classified based on tissue of origin or location in the body, it can also be classified into superficial or deep fibroma. This is a report of a 15-year-old Nigerian boy with a recurrent left ulnar tumour which was rapidly growing and has been excised three times. Preoperative investigations, i.e., plain radiograph, full blood count and fine needle aspiration cytology were done. Patient could not afford CT scan which was requested for. First excision was in 2009. Recurred within 1 year and had a repeat excision in 2011. He had a second recurrence 9 months after and had to have another excision. The last tumour excision left only the part of the left ulna that forms the proximal radioulnar joint and elbow joint. Patient has been followed up after the last excision for 18 months with no recurrence.

Intraosseous xanthomatous lesions of the mandible. report of the clinicopathologic characteristics of 14 cases and literature review

Intraosseous xanthomatous lesions (IXLs) constitute a heterogeneous group of rare lesions affecting predominantly long bones. Nomenclature of IXLs is obscure since various terms have been used including xanthoma, xanthogranuloma, fibroxathoma, benign fibrous histiocytoma and non-ossifying fibroma in order to describe intraosseous pathoses with essentially similar microscopic features. Histopathologically, IXLs are characterized by the presence of abundant lipid-containing macrophages. A varying in quantity fibroblastic component may also be encountered. Herein, we report our experience with the clinicopathologic features of IXLs of the jaws and review the pertinent literature.

A Rare Case of Solitary Enchondroma of Distal End of Radius Diagnosed Retrospectively.

Introduction: Solitary enchondroma of distal end of radius is extremely rare. Even after extensive search very little regarding it was found in the literature (even after extensive search only two case reports were found). This case being one of its kind as the diagnosis was done retrospectively as all the preoperative investigations pointed on different diagnosis so worthy of reporting. Case Report: A 15 - year-old female presented with pain in the right distal forearm for about 12 weeks with no associated constitutional symptoms. Preliminary investigations including MRI scan were suggestive of Chronic Osteomyeltis, therefore curettage was done. Histopathological examination report came as solitary enchondroma of distal radius, which is extremely rare (<1% incidence). Patient was symptom free with no evidence of recurrence at the follow-up of one year. Conclusion: The common differential diagnosis of a lytic lesion of distal radius in this age group includes Osteomyelitis, aneurysmal bone cyst, chondromyxoid fibroma, non-ossifying fibroma. Distal Radius is a very rare location for a solitary enchondroma but as our case signifies enchondroma should be kept as a differential diagnosis while evaluating lytic lesion of distal Radius.

Osteosarcoma in identical twins: A case report.

Osteosarcoma (OS) is the most frequent primary malignant bone tumor, if we exclude myeloma, a hematologic systemic disease. OS is relatively uncommon, with an estimated incidence of 600 cases per year in the United States. Among siblings is an even rarer phenomenon, with scattered reports throughout the English literature(1). We report the incidence of OS in identical twins. The first case is a low-grade OS arisen in the proximal tibia of a 25-year-old man, treated with en-bloc resection and reconstruction with allograft. The second one is a high-grade OS of the distal tibia of the 33-year-old twin, developed in a previous non-ossifying fibroma (NOF) followed over the time. The patient was treated with neo-adjuvant chemotherapy, en-bloc resection and reconstruction with allograft. Our literature review did not find any case of OS in identical twins, while 26 reports of OS in siblings are described.

A diagnosis of giant cell-rich tumour of bone is supported by p63 immunohistochemistry, when more than 50 % of cells is stained

Some primary malignant or benign tumours of bone contain numerous multinucleated cells. These "giant cell-rich tumours of bone" have overlapping features and clinical and radiological data are needed to reach an accurate pathological diagnosis. We studied the potential contribution of p63 immunohistochemistry to the reliability of the histological diagnosis. We performed a multicentric retrospective study of 291 giant cell-rich tumours of bone which included 119 giant cell tumours of bone (GCTB), 76 aneurysmal bone cysts (ABC), 49 chondroblastomas (CB), 15 nonossifying fibromas (NOF), 10 giant cell reparative granulomas (RG) of jaws, 1 giant cell lesion of small bones, 2 hyperparathyroidism-related brown tumours (BT), 17 bone sarcomas with numerous osteoclasts and 2 malignant giant cell tumours of bone. p63 is expressed in ABC, CB, NOF, RG, BT and GCTB, but its expression in more than 50 % of mononuclear cells is strongly suggestive of a diagnosis of GCTB. In contrast, malignant GCTB were mostly negative. Our results show that p63 is expressed in a broad range of benign giant cell-rich tumours of bone, consistent with data in the recent literature, while infrequent in malignant tumours. With a cut-off 50 %, the presence of p63 positive cells is useful in supporting a diagnosis of giant cell-rich tumour of bone. However, a final diagnosis cannot be made without due consideration of all clinical/radiological and pathological data.

Lésion lytique douloureuse solitaire du tibia chez un homme de 23 ans correspondant à un fibrome non ossifiant : une pseudo-tumeur… si mal nommée !

A 23-year-old patient is referred for long-standing mechanical pain of right tibia. X-rays disclose an intra-cortical lytic area of tibial diaphysis. A bone scintigraphy including a SPECT-CT study discloses a hot spot matching with roentgenographic lytic focus. MRI exhibits heterogeneous signal abnormalities. A bone biopsy is decided. Pathological findings are consistent with a non-ossifying fibroma (NOF). From this case report, pathophysiology, pathology, natural history, multimodality imaging and differential diagnosis of NOF are sketched out.

Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome

BackgroundJaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, as well as some features of type 1 neurofibromatosis. There are less than 30 reported cases, and a genetic profile has not yet been determined. Furthermore, it has not been clarified whether it is a subtype of type 1 neurofibromatosis or a separate syndrome. The risk of pathological fracture is over 50%, due to substantial cortical thinning of the weight-bearing bones.Case presentationA 17-year-old female patient, known for type 1 neurofibromatosis, presented with a low-energy distal femoral fracture due to disseminated large non-ossifying fibromas. Investigations revealed all of the distinctive signs of Jaffe-Campanacci syndrome. Both her distal femurs and proximal tibias exhibited multiple non-ossifying fibromas. The fracture was treated by open reduction and internal plate fixation. Some of the bony lesions were biopsied to confirm the diagnosis. The fracture healed eventless, as did the lesions biopsied or involved in the fracture. The other ones healed after curettage and bone grafting performed at the time of plate removal.ConclusionJaffe-Campanacci is a rare syndrome having unclear interactions with type 1 neurofibromatosis, which still needs to be characterised genetically. It is associated with a high risk of pathological fracture, due to the presence of multiple large non-ossifying fibromas of the long bones, with an expected normal healing time. Curettage and bone grafting promote healing of the lesions and should be considered to prevent pathological fracture. We agree with other authors that all patients with newly-diagnosed type 1 neurofibromatosis should undergo an osseous screening to detect disseminated non-ossifying fibromas, and evaluate the inherent risk of pathological fracture.

METAPHYSEAL FIBROUS DEFECTS AND NONOSSIFYING BONE FIBROMA IN CHILDREN: CLINICAL TYPES AND TREATMENT

The paper presents the results of a comprehensive examination and treatment of 158 children and adolescents with nonossifying bone fibroma and skeleton, who referred for specialized medical aid in clinic of Scientific and Research Institute for Children's Orthopedics n. a. G. I. Turner from 1980 to 2013. We defined diagnostic value and the criteria for identifying lesions using X-ray, computed tomography and radionuclide methods. We emphasized the dynamic variability of clinical and radiological manifestations of the pathological process in nonossifying bone fibroma and skeleton and related difficulties in the diagnosis. Accurate indications for the conservative and surgical treatment were pointed out.

Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma

Benign fibrous histiocytoma (BFH) is a mesenchymal tumor that most often occurs in the skin (so-called dermatofibroma), but may also appear in soft tissues (so-called deep BFH) and in the skeleton (so-called non-ossifying fibroma). The origin of BFH is unknown, and it has been questioned whether it is a true neoplasm. Chromosome banding, fluorescence in situ hybridization, single nucleotide polymorphism arrays, RNA sequencing, RT-PCR and quantitative real-time PCR were used to search for recurrent somatic mutations in a series of BFH. BFHs were found to harbor recurrent fusions of genes encoding membrane-associated proteins (podoplanin, CD63 and LAMTOR1) with genes encoding protein kinase C (PKC) isoforms PRKCB and PRKCD. PKCs are serine–threonine kinases that through their many phosphorylation targets are implicated in a variety of cellular processes, as well as tumor development. When inactive, the amino-terminal, regulatory domain of PKCs suppresses the activity of their catalytic domain. Upon activation, which requires several steps, they typically translocate to cell membranes, where they interact with different signaling pathways. The detected PDPN-PRKCB, CD63-PRKCD and LAMTOR1-PRKCD gene fusions are all predicted to result in chimeric proteins consisting of the membrane-binding part of PDPN, CD63 or LAMTOR1 and the entire catalytic domain of the PKC. This novel pathogenetic mechanism should result in constitutive kinase activity at an ectopic location. The results show that BFH indeed is a true neoplasm, and that distorted PKC activity is essential for tumorigenesis. The findings also provide means to differentiate BFH from other skin and soft tissue tumors.This article is part of a Directed Issue entitled: Rare cancers.

Tumor Treated by Endoscopy

BackgroundThis study was conducted to examine the clinical usefulness and efficacy of endoscopic curettage on benign bone tumor.MethodsThirty-two patients (20 men and 12 women) with benign bone tumor were included in the study. The patients were aged between five and 76 years; the mean follow-up period was 27.05 months (range, 9.6 to 39.9 months). The primary sites include simple bone cyst (9 cases), fibrous dysplasia (6 cases), enchondroma (5 cases), non-ossifying fibroma (4 cases), bone infarct (3 cases), aneurysmal bone cyst (1 case), chondroblastoma (1 case), osteoblastoma (1 case), intraosseous lipoma (1 case), and Brodie abscess (1 case). A plain radiography was performed to assess the radiological recovery. Radiological outcomes, including local recurrence and bone union, were evaluated as excellent, good, poor, and recurred.ResultsIn our series, there were 27 cases (84.4%) of good or better outcomes, six cases (18.8%) of complications (4 local recurrence, 1 wound infection, and 1 pathologic fracture).ConclusionsOur results showed that endoscopic curettage and bone graft had a lower rate of recurrence and a higher cure rate in cases of benign bone tumor. It can, therefore, be concluded that endoscopic curettage and bone graft might be good treatment modalities for benign bone tumors.

Diffusion-weighted Magnetic Resonance Imaging in the Diagnosis of Bone Tumors: Preliminary Results

Objective:The study aims to determine whether apparent diffusion coefficient (ADC) can help differentiate benign and malignant bone tumors.Materials and Methods:From January 2012 to February 2013, we prospectively included 26 patients. Of these 15 patients were male and 11 were female; ranging in age from 8 to 76 years (mean age, 34.5 years). Diffusion-weighted magnetic resonance (MR) imaging was obtained with a single-shot echo-planar imaging sequence using a 1.5T MR scanner. We grouped malignant lesions as primary, secondary, and primary tumor with chondroid matrix. The minimum ADC was measured in the tumors and mean minimum ADC values were selected for statistical analysis. ADC values were compared between malignant and benign tumors using the Mann-Whitney U-test and receiver operating curve analysis were done to determine optimal cut-off values.Results:The mean ADC values from the area with lowest ADC values of benign and malignant tumors were 1.99 ± 0.57 × 10−3 mm2/s and 1.02 ± 1.0 × 10−3 mm2/s, respectively. The mean minimum ADC values of benign and malignant tumors were statistically different (P = 0.029). With cut-off value of 1.37 (10−3 mm2/s), sensitivity was 77.8% and specificity was 82.4%, for distinguishing benign and malignant lesion. Benign and secondary malignant tumors showed statistically significant difference (P = 0.002). There was some overlap in ADC values between benign and malignant tumors. The mean minimum ADC values of benign and malignant chondroid tumors were high. Giant cell tumor, non-ossifying fibroma and fibrous dysplasia showed lower ADC values.Conclusion:Although there is some overlap, ADC values of benign and malignant bone tumors seem to be different. Further studies with larger patient groups are needed to find an optimal cut-off ADC value.