Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029463 (osteosarcoma)
 16,637 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Chest wall hamartoma is a rare non-neoplastic benign lesion occurring in the neonatal period with particular clinical, radiological and pathological features. Histologically, it is composed of a mixture of bone trabeculae with spindle-cell stroma, chondroblast-like cells, and mature and immature hyaline cartilage. Aneurysmal bone cyst is a benign lesion that may arise secondary to several bone processes, such as giant cell tumor, chondrosarcoma, non-ossifying fibroma or osteosarcoma. We present two new cases of chest wall hamartoma with secondary aneurysmatic bone cyst formation studied with histological and immunocytochemical methods.
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PMID:Chest wall hamartoma. Report of two cases with secondary aneurysmal bone cysts. 1179 32

A 31-year-old female came to our hospital complaining of left frontal bulging with pain on 10 August 2000. The head x-p showed a radiolucent lesion and bulging at the same calvarial site. CT scan and MRI showed fluid-fluid levels, diploic cyst, deformity and hypertrophic calvarial change. There was a partial hypervascular part of cyst adjacent to the left frontal base by selective left external carotid angiography. Harmonic image is a contrast specific imaging modality that uses the nonlinear properties of contrast agents by transmitting at the fundamental frequency and receiving at multiples of these frequencies. Pulse inversion harmonic image(PIHI) using pulse inversion to eliminate and strengthen the harmonic frequency is more effective than conventional harmonic imaging. Transcranial sonographic examination showed hyper- and hypoechoic appearances in the cyst around abnormal hyperechoic appearances of the calvarial site. The transcranial contrast sonographic images with PIHI (hereinafter TCIpi) demonstrated an enhanced intracystic lower stratum and nearby the diploic part. That modality facilitates better visualization than the harmonic imaging method, enabling differentiation of vascular from avascular areas. As contrast agents are microbubbles, those are restricted in the vascular canal space. So TCIpi findings proved to be a blood circulation of the tumor, cyst and neighboring tissue. Enhanced areas changed by every minute and disappeared gradually. The findings were probably based on the vascular component of the tumor. We obtained images similar to those with CT and MRI. The patient underwent on 21 August. The tumor was removed along with the surrounding skull component. Fresh and old blood were mixed in the cyst. The clinical and pathological diagnosis was aneurysmal bone cyst. The postoperative course was uneventful and she was discharged on 29 August. Aneurysmal bone cyst is a rare calvarial tumor. An diagnostic finding is fluid-fluid levels that appear in approximately 30% of aneurysmal bone cysts. However, this is not a specific finding and has also been reported to occur in osteosarcoma, malignant fibrous histiocytoma, fibrous dysplasia, synovial sarcoma, hemangioma and simple bone cyst. Therefore, diagnosis of aneurysmal bone cyst is based on a combination of the various imaging applications, clinical and pathological findings. Gometz reported that sonographic examination was superior to any diagnostic imaging studies for aneurysmal bone cyst. Furthermore, the perfusion examination like TCIpi can directly observe blood circulation channels in tissue, so the specific enhancement changes of aneurysmal bone cyst could be observed. TCIpi is a useful method for diagnosis of aneurysmal bone cyst.
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PMID:[A case of calvarial aneurysmal bone cyst: transcranial contrast sonographic examination with pulse inversion harmonic imaging method]. 1259 25

Aneurysmal bone cyst is a rare, rapidly expanding, locally destructive, and often misdiagnosed lesion. It accounts for about 1-2% of primary biopsied bone tumours. About 60-70 cases have been reported in the jaws; particularly the molar regions. Eighty percent of patients are under 20 years of age. Aneurysmal bone cyst exists as a primary or secondary lesion. It may be conventional (95%) or solid (5%). The solid variant is more difficult to recognize. The practical importance of aneurysmal bone cyst lies in the fact that it must be differentiated from malignant tumours: mainly with giant cell tumours and teleangiectatic osteosarcoma.
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PMID:Solid aneurysmal bone cyst of the mandible. 1536 7

Fractures through bone tumors are often difficult to treat. We reviewed our combined experience with this problem in children, as well as the existing literature, to formulate management guidelines. For this study, prospective databases (1987 to 2002) from three referral centers were screened for pathologic fractures occurring under the age of 14 years. One hundred five patients presented with fracture through unicameral bone cyst, nonossifying fibroma, fibrous dysplasia, aneurysmal bone cyst and osteosarcoma. Seventeen patients were excluded. The most common primary locations were the proximal humerus and proximal femur. Pathologic fracture through nonossifying fibroma had the best outcome; union occurred with nonsurgical treatment in all cases. Unicameral bone cyst required surgical treatment to avoid persistence of the cyst and refracture. However fracture healing was predictable without surgical treatment. Proximal femoral lesions tended to heal in malunion if not fixed surgically. Aneurysmal bone cyst required surgical treatment for the lesion to heal and to allow the fracture to heal as well. Percutaneous sclerotherapy may be the treatment of choice for many of these lesions. Fibrous dysplasia allows fracture healing with nonoperative therapy. Progressive deformity requires followup and surgical correction. Malignant lesions presenting a pathologic fracture are best managed by initial nonoperative therapy during investigation and neoadjuvant therapy when possible, followed by definitive treatment.
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PMID:Pathologic fractures in children. 1573 11

Aneurysmal bone cyst (ABC) is an uncommon osteolytic lesion of the bones, usually affecting the long bones and spine. The lesion is rare in the jaws and is found most commonly in the body and ramus of the mandible. In some cases, ABCs may be present as rdestructive lesions simulating malignancies. In these cases, a careful diagnosis should be done, including in the differential diagnosis malignant tumors such as telangiectasic osteosarcoma and intraosseous fibrosarcoma. Removing the lesion is usually easy if it is confined within the bone, but it may prove difficult if the lesions are multilocular, expansive, divided by multiple bony septa, or destructive or when the cortical is perforated. Therefore, the surgical treatment of the destructive ABCs should be more radical.
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PMID:Destructive aneurysmal bone cyst of the mandible. 2352 5

Aneurysmal bone cyst (ABC) is a locally aggressive, expansile, typically multilocular cystic bone tumor. ABC was previously thought to be a non-neoplastic lesion; however, it is now considered to be neoplasm that features recurrent chromosomal translocations resulting in gene fusions between ubiquitin specific peptidase 6 (USP6) and multiple partners, including COL1A1, CDH11, TRAP150, ZNF90 and OMD. Using next generation sequencing (NGS), we uncovered two fusion partners of USP6 in two ABCs: platelet activating factor acetylhydrolase 1b regulatory subunit 1 (PAFAH1B1), which is known to contribute to tumorigenesis in lung cancer, and runt-related transcription factor 2 (RUNX2), which is known to regulate osteoblastic differentiation, osteosarcoma tumorigenesis and its metastasis. In our study, the PAFAH1B1-USP6 fusion consisted of the promoter of PAFAH1B1 fused to the 5'-untranslated region (5'-UTR) of USP6 and was discovered in a typical ABC. The RUNX2-USP6 fusion had the promoter and a short coding region of RUNX2 fused to the translation start codon of USP6 and was detected in an unusually aggressive ABC with an osteosarcoma-like soft tissue extension. Our findings not only expanded the repertoire of the partner genes of USP6 in ABC but also can serve as a reference for future studies to better understand the correlation between various gene fusions and the progression of ABC.
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PMID:Gene fusions PAFAH1B1-USP6 and RUNX2-USP6 in aneurysmal bone cysts identified by next generation sequencing. 2844 6

Aneurysmal bone cysts (ABCs) are benign bony lesions frequently accompanied by multiple cystic lesions and aggressive bone destruction. They are relatively rare lesions, representing only 1% of bone tumors. The pathogenesis of ABCs has yet to be elucidated. In the present study, a series of 22 cases of primary and secondary ABC from patients treated in Department of Orthopedic Surgery, Kagoshima University Hospital (Kagoshima, Japan) from 2001-2015 were retrospectively analyzed. The average age at the time of diagnosis of primary ABC was 17.9 years. Intralesional curettage and artificial bone grafting were performed in the majority of the patients with primary ABC. The local recurrence rate following curettage for primary ABC was 18%, and the cause of local recurrence was considered to be insufficient curettage. Although no adjuvant therapy was administered during the surgeries, it may assist the prevention of local recurrence in certain cases. The cases of secondary ABC were preceded by benign bone tumors, including fibrous dysplasia, giant cell tumors, chondroblastoma and non-ossifying fibroma. The features of the secondary ABC typically reflected those of the preceding bone tumor. In the majority of cases, distinguishing the primary ABC from the secondary ABC was possible based on characteristic features, including age of the patient at diagnosis and the tumor location. In cases that exhibit ambiguous features, including a soft tissue mass or a thick septal enhancement on the preoperative magnetic resonance images, a biopsy must be obtained in order to exclude other types of aggressive bone tumors, including giant cell tumor, osteosarcoma and telangiectatic osteosarcoma.
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PMID:Diagnosing and discriminating between primary and secondary aneurysmal bone cysts. 2845 93