-
Orphanet Journal of Rare Diseases Dec 2019Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different...
BACKGROUND
Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior. This study attempted to compare the histological features of mandibular condylar hyperplasia and condylar osteochondroma using hematoxylin-and-eosin (H&E) staining, and immunohistochemistry staining of PCNA and EXT1 with quantitative analysis method.
RESULTS
The H&E staining showed that condylar hyperplasia and condylar osteochondroma could be divided into four histological types and exhibited features of different endochondral ossification stages. There was evidence of a thicker cartilage cap in condylar osteochondroma as compared condylar hyperplasia (P = 0.018). The percentage of bone formation in condylar osteochondroma was larger than was found in condylar hyperplasia (P = 0.04). Immunohistochemical staining showed that PCNA was mainly located in the undifferentiated mesenchymal layer and the hypertrophic cartilage layer, and there were more PCNA positive cells in the condylar osteochondroma (P = 0.007). EXT1 was mainly expressed in the cartilage layer, and there was also a higher positive rate of EXT1 in condylar osteochondroma (P = 0.0366). The thicker cartilage cap, higher bone formation rate and higher PCNA positive rate indicated a higher rate of proliferative activity in condylar osteochondroma. The more significant positive rate of EXT1 in condylar osteochondroma implied differential biological characteristic as compared to condylar hyperplasia.
CONCLUSIONS
These features might be useful in histopathologically distinguishing condylar hyperplasia and osteochondroma.
Topics: Female; Humans; Hyperplasia; Immunohistochemistry; Mandibular Condyle; N-Acetylglucosaminyltransferases; Osteochondroma; Proliferating Cell Nuclear Antigen
PubMed: 31842965
DOI: 10.1186/s13023-019-1272-5 -
Journal of Pediatric Orthopedics Jul 2022The peroneal nerve is at risk when excising tumors in the proximal fibula. The rate of nerve injuries during proximal fibular tumor resection varies from 3% to 20%. Our...
BACKGROUND
The peroneal nerve is at risk when excising tumors in the proximal fibula. The rate of nerve injuries during proximal fibular tumor resection varies from 3% to 20%. Our goal was to report our experience with resection of osteochondromas in the proximal fibula and describe the technique and utility of neuromonitoring during excision of proximal fibular osteochondromas (PFO).
METHODS
Patients with a diagnosis of symptomatic PFO who had undergone excision at one institution from 1994 to 2018 were included. An institutional review board-approved retrospective review was performed. Intraoperative neuromonitoring was provided from 2006 on by a single group utilizing a multimodality protocol.
RESULTS
This study contains 29 patients who had excision of osteochondromas in the proximal fibula. Of these 29 consecutively monitored patients, there were 34 involved extremities. Intraoperative neuromonitoring alerts occurred in 10/29 (34.5%) procedures, which included 3 electromyography (EMG) (30%), 2 motor-evoked potential (20%), 1 somatosensory-evoked potential (10%), and 4 alerts with a combination of EMG/motor-evoked potential/somatosensory-evoked potential changes (40%). The interventions that were taken resulted in resolution of the neuromonitoring changes in all procedures. Postoperatively, we noted 2 (6.9%) new mild sensory deficits, which resolved during follow up. There were 3 patients in whom pre-existing sensory-motor deficits improved but not completely after surgery, 1 motor weakness, and 2 with residual paresthesia. In those initially presenting with paresis, there was improvement in 8 of the 8 extremities by the last follow-up visit. Pain as a symptom was resolved in all cases. There were no iatrogenic foot drop injuries. The average follow up was 32.2 months.
CONCLUSIONS
Neuromonitoring during PFO excision demonstrated a high number of alerts, all of which resolved following timely corrective action. The use of neuromonitoring may help decrease the risk of iatrogenic postoperative neurological deficits following fibular osteochondroma surgery.
LEVEL OF EVIDENCE
Level IV.
Topics: Bone Neoplasms; Evoked Potentials, Motor; Evoked Potentials, Somatosensory; Fibula; Humans; Osteochondroma; Retrospective Studies
PubMed: 35348549
DOI: 10.1097/BPO.0000000000002149 -
Journal of Cancer Research and... 2022Osteochondromas are usually osseous outgrowths arising from the metaphyseal region of cortical bone. Moreover, osteochondroma can also arise from flat bones and the...
Osteochondromas are usually osseous outgrowths arising from the metaphyseal region of cortical bone. Moreover, osteochondroma can also arise from flat bones and the spine. However, their origin in the ribs is extremely rare and always near the costochondral junction. We present a 26-year-old male who presented with chief complaints of difficulty in walking for 2 weeks subsequently diagnosed with osteochondroma based on the presence of a cartilage cap on Magnetic resonance imaging.
Topics: Male; Humans; Adult; Bone Neoplasms; Osteochondroma; Ribs; Paraparesis; Magnetic Resonance Imaging
PubMed: 36412449
DOI: 10.4103/jcrt.JCRT_400_20 -
American Journal of Ophthalmology Case... Jun 2022Osteosarcoma is an aggressive malignant osteogenic tumor that commonly arises in long bones of pediatric populations. Primary osteosarcomas of the head and neck are...
PURPOSE
Osteosarcoma is an aggressive malignant osteogenic tumor that commonly arises in long bones of pediatric populations. Primary osteosarcomas of the head and neck are rare, comprising less than 0.5% of malignancies in this region, usually affecting the mandible or maxilla. Here we present an extraordinary case of a rare benign osteochondroma of the ethmoid sinus and bilateral orbits evolving to an intermediate grade osteosarcoma.
OBSERVATIONS
An 80-year-old woman with a history of right orbital tumor resection 20 years ago presented to our clinic with right eye proptosis and palpable bony prominence of the right orbit and nasal bridge. Partial resection demonstrated sino-orbital osteochondroma. Relapse a year later prompted repeat partial resection with unchanged histology. The patient was followed clinically until an abrupt relapse four years after initial presentation. Imaging demonstrated a large bony mass involving the right orbit, ethmoid and frontal sinuses, and anterior cranial fossa. Repeat debulking confirmed transformation to intermediate grade osteosarcoma.
CONCLUSIONS
Osteochondroma is an extremely rare tumor in the orbit with only three cases previously reported. This patient is the first known case of benign osteochondroma of the orbit undergoing malignant transformation to osteosarcoma. Rapid progression of orbital osteochondroma should raise the suspicion of malignant transformation to osteosarcoma and prompt biopsy. Our patient subsequently underwent palliative radiation treatment and is stable with no gross progression.
PubMed: 35321249
DOI: 10.1016/j.ajoc.2022.101481 -
Orthopedic Nursing
Topics: Humans; Tibia; Bone Neoplasms; Osteochondroma
PubMed: 37989162
DOI: 10.1097/NOR.0000000000000995 -
Turkish Archives of Pediatrics Jul 2023Hereditary multiple osteochondromas is an autosomal dominant disorder caused by heterozygous pathogenic variants in EXT1 or EXT2. We aimed to evaluate the clinical and...
OBJECTIVE
Hereditary multiple osteochondromas is an autosomal dominant disorder caused by heterozygous pathogenic variants in EXT1 or EXT2. We aimed to evaluate the clinical and molecular findings of a Turkish cohort with hereditary multiple osteochondroma.
MATERIALS AND METHODS
Thirty-two patients aged 1.3-49.6 years from 22 families were enrolled. Genetic analyses were made by EXT1 and/or EXT2 sequencing and chromosomal microarray analyses.
RESULTS
We found 17 intragenic pathogenic variants in EXT1 (13/17) and EXT2 (4/17), 12 of which are novel. Four probands had EXT1 deletions, including 2 patients with partial EXT1 microdeletions involving exons 2-11 and 5-11, and 2 patients with whole-gene deletions. In 21 variants, the frequency of truncating and missense variants was 76.1% and 23.8%, respectively. Two families had no detectable variants in EXT1 and EXT2. All patients had multiple osteochondromas at the long bones, mainly at the tibia, forearm, femur, and humerus. Bowing deformity of the forearms (9/32) and the lower extremities (2/32), and scoliosis (6/32) were observed. The clinical severity was not different between patients with EXT1 or EXT2 variants. One patient with an EXT2 variant and another with an EXT1 microdeletion had the most severe phenotype with class III disease. Four patients with no EXT1 or EXT2 variants had milder phenotypes. Intrafamilial variability in disease severity was not observed.
CONCLUSION
We report a hereditary multiple osteochondroma cohort with clinical and molecular data including 12 novel intragenic variants in EXT1 or EXT2, and 4 microdeletions involving EXT1. Taken together, our data expand the existing knowledge of the phenotype-genotype spectrum in hereditary multiple osteochondroma.
PubMed: 37317574
DOI: 10.5152/TurkArchPediatr.2023.23011 -
Journal of Pediatric Orthopedics Aug 2022The burden of upper extremity (UE) osteochondromas on function and self-perception among pediatric patients is unclear. The purpose of our study was to study the impact...
PURPOSE
The burden of upper extremity (UE) osteochondromas on function and self-perception among pediatric patients is unclear. The purpose of our study was to study the impact of osteochondromas in comparison to population norms and to evaluate solitary versus multiple osteochondromas on subjective UE function as measured by patient rated outcomes.
METHODS
We utilized the CoULD (Congenital Upper Limb Differences) Registry to review all pediatric patients presenting with osteochondromas between January 2014 and February 2021. Demographic information was collected and patients were classified as having either single or multiple osteochondromas. Patient-Reported Outcome Measurement Information System (PROMIS) and Pediatric Outcomes Data Collection Instrument (PODCI) tools were utilized for assessment. Scores for PODCI subscales of UE function, Pain/comfort, and Happiness and PROMIS domains of UE Function, Pain, Depression, Anxiety, and Peer Relations were reviewed. Differences between groups were analyzed using the Student t test.
RESULTS
Ninety-nine patients met inclusion criteria for the study with an average age of presentation of 9.3 years and 61 patients (62%) were male. Overall, patients demonstrated worse UE Function as well as greater Anxiety and Depression in comparison to the population normals on PROMIS assessment. Patients also demonstrated worse patient and parent reported PODCI UE, Sports and Physical Functioning, Pain/Comfort and Global Functioning scores compared with population norms but demonstrated better than average happiness scores. Patients with multiple osteochondromas demonstrated greater PROMIS pain interference and more disability in PODCI Sports and Physical Functioning, Pain/Comfort and Global Functioning compared with those with solitary osteochondromas.
CONCLUSION
Patients with UE osteochondromas have worse overall function in comparison to population norms, exceeding established minimally clinically important difference values. In addition, patients with multiple osteochondromas reported more pain and poorer physical function than those with solitary osteochondromas. Physicians should be alert to the physical and psychosocial burden of this disease.
LEVEL OF EVIDENCE
Level II-prognostic.
Topics: Anxiety; Bone Neoplasms; Child; Depression; Exostoses, Multiple Hereditary; Female; Humans; Male; Osteochondroma; Pain; Patient Reported Outcome Measures; Physical Functional Performance; Registries; Upper Extremity
PubMed: 35749762
DOI: 10.1097/BPO.0000000000002167 -
Acta Orthopaedica Et Traumatologica... Jan 2020The aim of this study was to investigate ErbB2 expression in osteochondroma and its relationship with clinicopathologic features of osteochondroma, so as to identify a...
OBJECTIVE
The aim of this study was to investigate ErbB2 expression in osteochondroma and its relationship with clinicopathologic features of osteochondroma, so as to identify a new biomarker for the malignant transformation potential of osteochondroma.
METHODS
Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) were used to investigate the expression status of ErbB2 protein and gene in 30 osteochondroma tissues and 20 non-neoplastic bone tissues. The association of ErbB2 gene and protein expression with clinicopathological parameters of osteochondroma was analyzed by using the χ2 test and Fishers exact test.
RESULTS
ErbB2 protein was found to be over-expressed in 4 of 30 (13.3%) osteochondromas and 1 of 20 (5%) non-neoplastic bone samples, which were not statistically significant (p=0.336). However, 13 of the 30 (43.3%) osteochondromas showed ErbB2 gene amplification, which was failed to be observed in any of the non-neoplastic bone tissue. ErbB2 gene amplification in osteochondroma was significantly higher compared with that in non-neoplastic bone tissue (p=0.001). In addition, the ErbB2 gene amplification was closely associated with clinical pathological parameters of osteochondroma, including high expression of cellularity (p=0.001), presence of binucleated cells (p=0.001), nuclear pleomorphism (p=0.003), calcification (p=0.002), nodularity (p=0.002), necrosis (p=0.009) and cartilage thickness (p=0.026). The association of the gene amplification with other clinicopathological parameters of osteochondroma, including permeation of trabecular bone, cystic/mucoid changes, mitosis, radiographic appearance, cap volume and subtype of osteochondroma was not observed. The over-expression of ErbB2 protein was not found to be associated with the above stated clinical pathological parameters of osteochondroma.
CONCLUSION
ErbB2 gene amplification was associated with adverse clinicopathological status of osteochondroma and could serve as an index for malignant conversion of osteochondroma. Further research is required to verify the predictive values of ErbB2 for osteochondroma.
LEVEL OF EVIDENCE
Level IV, Diagnostic Study.
Topics: Adult; Bone Neoplasms; Cell Transformation, Neoplastic; China; Female; Gene Amplification; Gene Expression; Humans; Immunohistochemistry; Male; Osteochondroma; Receptor, ErbB-2
PubMed: 32175895
DOI: 10.5152/j.aott.2020.01.484 -
Cureus Oct 2022Osteochondromas are bone lesions composed of medullary and cartilaginous bone covered by a cap of hyaline cartilage. The presence of medullary and cortical bone with the...
Osteochondromas are bone lesions composed of medullary and cartilaginous bone covered by a cap of hyaline cartilage. The presence of medullary and cortical bone with the continuity of the tumor is pathognomonic for osteochondroma and aid in establishing the diagnosis. We report a case of a two-year-old girl who presented to our clinic following her mother noticing a palpable, growing, and painful mass on her left scapula. There was no limitation in the range of motion. A clear-cut mass was seen on the dorsal aspect and palpated measuring around 2.5x3 cm. Surgical excision of the mass followed by histologic examination confirmed osteochondroma. Upon follow-up, the patient had no pain and had a full range of left shoulder motion without discomfort or pain. In conclusion, scapular exostoses are very rare and more so when they present dorsally. Symptomatic lesions can be managed effectively with surgical excision of exostosis.
PubMed: 36311482
DOI: 10.7759/cureus.30558 -
BMJ Case Reports Sep 2021Osteochondromas in hereditary multiple exostosis have increased risk of malignant transformation as compared with solitary osteochondromas. We present a case of a...
Osteochondromas in hereditary multiple exostosis have increased risk of malignant transformation as compared with solitary osteochondromas. We present a case of a 54-year-old man who presented to us with complaints of swollen mass of the left shoulder with an ulcerative lesion. Radiograph showed a sessile growth from the proximal humerus and scapula. MRI revealed a sessile osteochondroma measuring about 11×10.1×8.0 cm. The malignant nature of the disease was anticipated due to increased cap thickness and non-healing ulcer, however, biopsy showed a benign lesion without any sarcomatous change. The patient was successfully treated with extra-periosteal excision and was recurrence-free at 24 months follow-up. This case illustrates an extra-articular giant osteochondroma of the proximal humerus, with possible signs of a malignant lesion but diagnosed benign on biopsy. We conclude that a biopsy should always preclude definitive management as this can change the overall mortality and morbidity of the patient.
Topics: Bone Neoplasms; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Osteochondroma; Shoulder; Ulcer
PubMed: 34518177
DOI: 10.1136/bcr-2021-243202