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Radiology Case Reports Oct 2023Parosteal osteosarcomas (POS) are well-differentiated low-grade malignant sarcomas that are located on the surface of the bone. POS of the temporal bone is exceptionally...
Parosteal osteosarcomas (POS) are well-differentiated low-grade malignant sarcomas that are located on the surface of the bone. POS of the temporal bone is exceptionally rare, with less than a hand full of cases present in modern literature. Here, we report a POS of the temporal bone found incidentally and with an uncharacteristic presentation. We also review the unique imaging and histopathological findings of this entity and discuss why developing a broad differential diagnosis and proceeding with early intervention are considered imperative in this disease.
PubMed: 37577081
DOI: 10.1016/j.radcr.2023.07.038 -
The Journal of International Advanced... Oct 2023Osteosarcoma is the most common primary malignant tumor affecting the bone but is a rare occurrence in the head and neck region. Complete surgical resection with wide...
Osteosarcoma is the most common primary malignant tumor affecting the bone but is a rare occurrence in the head and neck region. Complete surgical resection with wide surgical margins is currently the main treatment strategy for osteosarcoma but can be hard to achieve due to the complex anatomy of the head and neck. We report the first case of primary high-grade dedifferentiated parosteal osteosarcoma arising from the temporal bone in published literature. The 19-year-old patient presented with a left retroauricular lesion measuring 3 cm in diameter. Radiographic imaging and biopsy suggested the diagnosis of intermediate-grade chondrosarcoma, but definitive histopathology confirmed a diagnosis of dedifferentiated parosteal osteosarcoma. The tumor was resected with wide margins, removing the underlying temporal bone, periosteum and overlying soft tissue through a lateral temporal bone resection. The middle ear was reconstructed with cartilage grafting, and the dura of the posterior and middle cranial fossa was covered using temporal fascia grafts and local transpositional flaps. The patient is recurrence free 10 months after treatment. This report was assembled following CARE [The CARE guidelines (for Case Reports)] guidelines and describes clinical, histological, and radiological manifestations of our patient's rare clinical entity and may provide more data in treating patients with osteosarcoma affecting the anatomically complex head-and-neck region.
Topics: Humans; Young Adult; Adult; Bone Neoplasms; Osteosarcoma; Osteosarcoma, Juxtacortical; Tomography, X-Ray Computed; Temporal Bone
PubMed: 37789632
DOI: 10.5152/iao.2023.22923 -
BMC Musculoskeletal Disorders Dec 2023Parosteal osteosarcomas are low-grade bony malignancies that are treated primarily with surgical resection and reconstruction. This report discusses a unique case of a...
INTRODUCTION
Parosteal osteosarcomas are low-grade bony malignancies that are treated primarily with surgical resection and reconstruction. This report discusses a unique case of a pediatric patient who presented with a parosteal osteosarcoma of the distal radius causing extensive erosive mass effect and growth disturbance of the adjacent ulna. Likely due to their slow-growing nonaggressive nature, parosteal osteosarcomas have not been previously described to abut adjacent bony structures through direct contact. The patient presented in a significantly delayed manner due to social circumstances, inadvertently revealing this novel behavior. This report reviews this rare case and describes the current understanding of this tumor.
CASE PRESENTATION
The patient is a 13-year-old male who presented with a parosteal osteosarcoma of his distal radius. He presented with a palpable wrist mass and wrist stiffness. He presented in a delayed manner with advanced local disease due to social factors. Imaging revealed an osseous radial mass that abutted the ulna and likely stunted its growth. The patient ultimately underwent complex resection and allograft reconstruction of both his distal radius and ulna. Intraoperative pathology was confirmed to have negative tumor margins. Allograft reconstruction of the radius and ulna was performed utilizing patient-specific custom cutting guides. At the 6-month postoperative visit, the patient had no recurrence of the mass, minimal pain, and had almost regained range of motion of the extremities. Clinical radiographs at the 6-month postoperative visit demonstrated allograft incorporation.
CONCLUSIONS
A previously unreported case of pediatric parosteal osteosarcoma of the distal radius with erosion of the adjacent ulna through direct contact is presented. The challenges in and the importance of arriving at a definitive diagnosis in a timely manner for the proper treatment of this malignancy are emphasized.
Topics: Adolescent; Humans; Male; Bone Neoplasms; Osteosarcoma; Radius; Ulna; Upper Extremity
PubMed: 38057715
DOI: 10.1186/s12891-023-07018-0 -
JBJS Case Connector Apr 2024A 24-year-old woman presented with dedifferentiated parosteal osteosarcoma of the proximal femur and was treated with limb salvage surgery using the Compress implant. It...
CASE
A 24-year-old woman presented with dedifferentiated parosteal osteosarcoma of the proximal femur and was treated with limb salvage surgery using the Compress implant. It was implanted with a technical error, was not revised, and has demonstrated no negative outcomes 29 months postoperatively.
CONCLUSION
An instance of incorrect pin placement during the implantation of a Zimmer Compress implant is presented with good survivorship. This report acts as information for other surgeons who might inadvertently obtain unicortical fixation. In this patient, revision surgery was avoided and an excellent, short-term outcome was achieved while avoiding the potentially devastating complications associated with revision implantation.
Topics: Humans; Female; Young Adult; Femoral Neoplasms; Osteosarcoma; Limb Salvage
PubMed: 38728441
DOI: 10.2106/JBJS.CC.23.00667 -
Vascular Specialist International Nov 2023Recurrent parosteal sarcomas with vascular involvement are rare and present unique challenges in their diagnosis and management. We report the case of a 21-year-old...
Recurrent parosteal sarcomas with vascular involvement are rare and present unique challenges in their diagnosis and management. We report the case of a 21-year-old woman with parosteal osteosarcoma of the left distal femur, encasing the popliteal vessels. En bloc transarticular resection of the distal femur and popliteal vessels was performed, followed by reconstruction using a modular prosthesis and a saphenous vein autograft for both the artery and vein. On the 1st postoperative day, the patient developed an arterial thrombus requiring reintervention with a jump polytetrafluoroethylene (PTFE) graft. Histopathology confirmed parosteal osteosarcoma. After a disease-free survival of 41 months, the patient experienced local recurrence involving the PTFE graft, leading to graft compression, erosion, and subsequent thrombosis. Despite these complications, limb salvage was possible due to adequate collateral blood supply. This case highlights the feasibility of limb salvage surgery in select cases of parosteal osteosarcoma with vascular involvement.
PubMed: 37927145
DOI: 10.5758/vsi.230058 -
Clinical Nuclear Medicine Apr 2024A 24-year-old man with a history of osteosarcoma presented with swelling in his right thigh for more than 1 year. 18 F-FDG PET/CT demonstrated increased FDG uptake in...
A 24-year-old man with a history of osteosarcoma presented with swelling in his right thigh for more than 1 year. 18 F-FDG PET/CT demonstrated increased FDG uptake in multiple juxtacortical masses around the prosthesis, which highly suggested the possibility of osteosarcoma recurrence. A biopsy was performed, and the pathology confirmed the diagnosis of particle disease. The current case indicates that particle disease should be considered when interpreting the PET/CT images with high FDG uptake around the prosthesis.
Topics: Male; Humans; Young Adult; Adult; Fluorodeoxyglucose F18; Positron Emission Tomography Computed Tomography; Neoplasm Recurrence, Local; Osteosarcoma; Bone Neoplasms
PubMed: 38271228
DOI: 10.1097/RLU.0000000000005061 -
International Journal of Surgical... Oct 2023Periosteal fasciitis is a subtype of nodular fasciitis originating from the periosteum. The diagnosis can be challenging and requires radiologic-pathologic correlation....
Periosteal fasciitis is a subtype of nodular fasciitis originating from the periosteum. The diagnosis can be challenging and requires radiologic-pathologic correlation. Advances in molecular analysis confirmed that nodular fasciitis and its related lesions harbor a gene rearrangement with one of the several potential partners. Herein, we report a case of periosteal fasciitis with metaplastic bone formation detected incidentally during a radiologic survey for breast carcinoma. Radiologic examination revealed a 2.4 cm, heterogeneous, avidly enhancing lesion of the right femoral distal metaphysis concerning for low-grade periosteal chondrosarcoma. Histological examination of a core needle biopsy revealed a tumor composed of bland spindle cells with myofibroblastic and osteoblastic phenotypes admixed with immature bone and cartilaginous elements. Molecular analysis revealed a novel fusion that helped arrive at the right diagnosis and further expands the molecular profile of -associated neoplasms.
Topics: Humans; Proto-Oncogene Proteins; Gene Rearrangement; Ubiquitin Thiolesterase; Fasciitis; Fibroma; Bone Neoplasms; Nuclear Proteins
PubMed: 36694417
DOI: 10.1177/10668969221150369 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Mar 2024To investigate the diagnostic value of detecting MDM2 gene amplification by fluorescence in situ hybridization (FISH) in low-grade osteosarcoma (LGOS). Thirty cases of...
To investigate the diagnostic value of detecting MDM2 gene amplification by fluorescence in situ hybridization (FISH) in low-grade osteosarcoma (LGOS). Thirty cases of parosteal osteosarcoma (POS) and 14 cases of low-grade central osteosarcoma (LGCOS) from April 2009 to August 2022 at Beijing Jishuitan Hospital, Capital Medical University were analyzed for the presence of MDM2 gene amplification by FISH. Fifty-eight additional cases were used as negative controls (including 28 cases of fibrous dysplasia, 5 cases of giant cell tumor, 4 cases of conventional osteosarcoma, 2 cases each of periosteal osteosarcoma, reparative changes after fracture, pleomorphic undifferentiated sarcoma, low grade myofibroblastic sarcoma, fibrous dysplasia with malignant transformation, one case each of leiomyosarcoma, sclerosing epithelioid fibrosarcoma, malignant peripheral nerve sheath tumor, desmoplastic fibroma of bone, solitary fibrous tumor, aneurysmal bone cyst, clear cell chondrosarcoma, osteofibrous dysplasia, and 3 cases of unclassified spindle cell tumor). Among the 30 patients with POS, 15 were male and 15 were female, ranging in age from 10 to 59 years (mean 35 years, median 30.5 years). Among the 14 patients with LGCOS, four were male and 10 were female, ranging in age from 15 to 56 years (mean 37 years, median 36 years). All except one case were successfully detected by FISH. MDM2 gene amplification was detected in 27 cases of POS (27/29,91.3%) and 8 cases of LGCOS (8/14). All the negative controls were negative for MDM2 gene amplification. The positive rate of MDM2 gene amplification was significantly different between the case group and the control group (<0.05). The sensitivity and specificity of MDM2 gene amplification in diagnosing POS and LGCOS were 91.3% and 100.0%; and 57.1% and 100.0%, respectively. The sensitivity and specificity of MDM2 gene amplification in diagnosing LGOS (including POS and LGCOS) were 81.3% and 100.0%, respectively. In cases where MDM2 gene was amplified, the MDM2 amplified signal was clustered. Nine cases showed increased CEP12 signal different from polyploidy which was displayed as small and weak signal points or cloud flocculent and cluster signals. Detection of MDM2 gene amplification by FISH is a highly sensitive and specific marker for LGOS. The interpretation criteria for FISH detection of MDM2 amplification are currently not unified. The signal characteristics need more attention when interpreting.
Topics: Humans; Female; Male; Child; Adolescent; Young Adult; Adult; Middle Aged; Gene Amplification; In Situ Hybridization, Fluorescence; Osteosarcoma; Sarcoma; Fibrosarcoma; Bone Neoplasms; Proto-Oncogene Proteins c-mdm2
PubMed: 38433050
DOI: 10.3760/cma.j.cn112151-20231014-00263 -
Scientific Reports Jan 2024Bone cancer is a rare in which cells in the bone grow out of control, resulting in destroying the normal bone tissue. A benign type of bone cancer is harmless and does...
Bone cancer is a rare in which cells in the bone grow out of control, resulting in destroying the normal bone tissue. A benign type of bone cancer is harmless and does not spread to other body parts, whereas a malignant type can spread to other body parts and might be harmful. According to Cancer Research UK (2021), the survival rate for patients with bone cancer is 40% and early detection can increase the chances of survival by providing treatment at the initial stages. Prior detection of these lumps or masses can reduce the risk of death and treat bone cancer early. The goal of this current study is to utilize image processing techniques and deep learning-based Convolution neural network (CNN) to classify normal and cancerous bone images. Medical image processing techniques, like pre-processing (e.g., median filter), K-means clustering segmentation, and, canny edge detection were used to detect the cancer region in Computer Tomography (CT) images for parosteal osteosarcoma, enchondroma and osteochondroma types of bone cancer. After segmentation, the normal and cancerous affected images were classified using various existing CNN-based models. The results revealed that AlexNet model showed a better performance with a training accuracy of 98%, validation accuracy of 98%, and testing accuracy of 100%.
Topics: Humans; Deep Learning; Early Detection of Cancer; Neural Networks, Computer; Tomography, X-Ray Computed; Computers; Bone Neoplasms; Osteosarcoma; Image Processing, Computer-Assisted
PubMed: 38273131
DOI: 10.1038/s41598-024-52719-8 -
Clinical Orthopaedics and Related... Jun 2024A liquid biopsy is a test that evaluates the status of a disease by analyzing a sample of bodily fluid, most commonly blood. In recent years, there has been progress in...
BACKGROUND
A liquid biopsy is a test that evaluates the status of a disease by analyzing a sample of bodily fluid, most commonly blood. In recent years, there has been progress in the development and clinical application of liquid biopsy methods to identify blood-based, tumor-specific biomarkers for many cancer types. However, the implementation of these technologies to aid in the treatment of patients who have a sarcoma remains behind other fields of cancer medicine. For this study, we chose to evaluate a sarcoma liquid biopsy based on circulating tumor DNA (ctDNA). All human beings have normal cell-free DNA (cfDNA) circulating in the blood. In contrast with cfDNA, ctDNA is genetic material present in the blood stream that is derived from a tumor. ctDNA carries the unique genomic fingerprint of the tumor with changes that are not present in normal circulating cfDNA. A successful ctDNA liquid biopsy must be able to target these tumor-specific genetic alterations. For instance, epidermal growth factor receptor (EGFR) mutations are common in lung cancers, and ctDNA liquid biopsies are currently in clinical use to evaluate the status of disease in patients who have a lung cancer by detecting EGFR mutations in the blood. As opposed to many carcinomas, sarcomas do not have common recurrent mutations that could serve as the foundation to a ctDNA liquid biopsy. However, many sarcomas have structural changes to their chromosomes, including gains and losses of portions or entire chromosomes, known as copy number alterations (CNAs), that could serve as a target for a ctDNA liquid biopsy. Murine double minute 2 (MDM2) amplification in select lipomatous tumors or parosteal osteosarcoma is an example of a CNA due to the presence of extra copies of a segment of the long arm of chromosome 12. Since a majority of sarcomas demonstrate a complex karyotype with numerous CNAs, a blood-based liquid biopsy strategy that searches for these CNAs may be able to detect the presence of sarcoma ctDNA. Whole-genome sequencing (WGS) is a next-generation sequencing technique that evaluates the entire genome. The depth of coverage of WGS refers to how detailed the sequencing is, like higher versus lower power on a microscope. WGS can be performed with high-depth sequencing (that is, > 60×), which can detect individual point mutations, or low-depth sequencing (that is, 0.1× to 5×), referred to as low-passage whole-genome sequencing (LP-WGS), which may not detect individual mutations but can detect structural chromosomal changes including gains and losses (that is, CNAs). While similar strategies have shown favorable early results for specific sarcoma subtypes, LP-WGS has not been evaluated for applicability to the broader population of patients who have a sarcoma.
QUESTIONS/PURPOSES
Does an LP-WGS liquid biopsy evaluating for CNAs detect ctDNA in plasma samples from patients who have sarcomas representing a variety of histologic subtypes?
METHODS
This was a retrospective study conducted at a community-based, tertiary referral center. Nine paired (plasma and formalin-fixed paraffin-embedded [FFPE] tissue) and four unpaired (plasma) specimens from patients who had a sarcoma were obtained from a commercial biospecimen bank. Three control specimens from individuals who did not have cancer were also obtained. The paired and unpaired specimens from patients who had a sarcoma represented a variety of sarcoma histologic subtypes. cfDNA was extracted, amplified, and quantified. Libraries were prepared, and LP-WGS was performed using a NextSeq 500 next-generation sequencing machine at a low depth of sequencing coverage (∼1×). The ichorCNA bioinformatics algorithm, which was designed to detect CNAs from low-depth genomic sequencing data, was used to analyze the data. In contrast with the gold standard for diagnosis in the form of histopathologic analysis of a tissue sample, this test does not discriminate between sarcoma subtypes but detects the presence of tumor-derived CNAs within the ctDNA in the blood that should not be present in a patient who does not have cancer. The liquid biopsy was positive for the detection of cancer if the ichorCNA algorithm detected the presence of ctDNA. The algorithm was also used to quantitatively estimate the percent ctDNA within the cfDNA. The concentration of ctDNA was then calculated from the percent ctDNA relative to the total concentration of cfDNA. The CNAs of the paired FFPE tissue and plasma samples were graphically visualized using aCNViewer software.
RESULTS
This LP-WGS liquid biopsy detected ctDNA in 9 of 13 of the plasma specimens from patients with a sarcoma. The other four samples from patients with a sarcoma and all serum specimens from patients without cancer had no detectable ctDNA. Of those 9 patients with positive liquid biopsy results, the percent ctDNA ranged from 6% to 11%, and calculated ctDNA quantities were 0.04 to 5.6 ng/mL, which are levels to be expected when ctDNA is detectable.
CONCLUSION
In this small pilot study, we were able to detect sarcoma ctDNA with an LP-WGS liquid biopsy searching for CNAs in the plasma of most patients who had a sarcoma representing a variety of histologic subtypes.
CLINICAL RELEVANCE
These results suggest that an LP-WGS liquid biopsy evaluating for CNAs to identify ctDNA may be more broadly applicable to the population of patients who have a sarcoma than previously reported in studies focusing on specific subtypes. Large prospective clinical trials that gather samples at multiple time points during the process of diagnosis, treatment, and surveillance will be needed to further assess whether this technique can be clinically useful. At our institution, we are in the process of developing a large prospective clinical trial for this purpose.
PubMed: 38905450
DOI: 10.1097/CORR.0000000000003161