Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Parosteal osteosarcoma and low-grade central osteosarcoma are two types of low-grade osteosarcoma that show similar clinical behaviors, histological features, and genetic background (ie, amplified sequences of 12q13-15, including MDM2 and CDK4). Low-grade osteosarcoma is often confused with benign lesions, and ancillary techniques to enhance diagnostic accuracy have been awaited. This study explores the use of MDM2 and CDK4 immunohistochemistry for the histological diagnosis of low-grade osteosarcoma. We studied 23 cases of low-grade osteosarcoma from 21 patients (parosteal osteosarcoma (n=14), low-grade central osteosarcoma (n=9)) and 40 cases of benign histological mimics (myositis ossificans (n=11), fibrous dysplasia (n=14), osteochondroma (n=6), desmoplastic fibroma (n=1), florid reactive periostitis (n=4), Nora's lesion (n=3), and turret exostosis (n=1)). Low-grade osteosarcoma labeled for MDM2 in 16 cases (70%) and for CDK4 in 20 cases (87%). All low-grade osteosarcomas expressed one or both markers (100%), with 13 cases (57%) expressing both. Staining pattern was diffuse in most cases, and the majority expressed moderate or strong intensity for either antibody. MDM2/CDK4 immunostaining was shown irrespective of low-grade osteosarcoma histological subtype. In contrast, only 1 Nora's lesion out of the 40 miscellaneous benign processes showed immunoreactivity for MDM2 or CDK4. The combination of these two markers thus shows 100% sensitivity and 97.5% specificity for the diagnosis of low-grade osteosarcoma. MDM2 and CDK4 immunostains therefore reliably distinguish low-grade osteosarcoma from benign histological mimics, and their combination may serve as a useful adjunct in this difficult differential diagnosis.
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PMID:Immunohistochemical analysis of MDM2 and CDK4 distinguishes low-grade osteosarcoma from benign mimics. 2060 38

Mature bone formation in well-differentiated liposarcoma and dedifferentiated liposarcoma has been described as a reactive or "metaplastic" change in most reports, and its neoplastic nature has not been widely appreciated. We herein describe 9 cases of well-differentiated/dedifferentiated liposarcoma with distinct areas of fibroosseous tissue histologically indistinguishable from low-grade osteosarcomas, that is, parosteal osteosarcoma or low-grade central osteosarcoma. The tumors affected middle-aged to elderly patients, and occurred in the retroperitoneum and deep soft tissue of the extremities without connection to the skeletal system. Grossly, all the tumors showed biphasic appearance with lipogenic and osteogenic area, the latter representing 5% to 50% of the total tumor volume. Histologically, the lipogenic component exhibited typical histology of well-differentiated liposarcoma, whereas the osteogenic area consisted of fibroosseous tissue with numerous mature neoplastic bone trabeculae largely lacking osteoblastic rimming, with intervening fascicles of spindle cell proliferation showing low nuclear grade. All samples were positive for MDM2 and/or CDK4 on immunohistochemical analysis; the antibodies stained many osteocytes, indicating that the bone is neoplastic rather than reactive. Three cases showed high-grade osteosarcomatous transformation juxtaposed to the low-grade osteosarcomatous component, reminiscent of the "dedifferentiation" phenomenon of skeletal low-grade osteosarcoma. Follow-up revealed local recurrence in 4 cases, but no distant metastases were documented. Recognition of this earlier underappreciated subtype of well-differentiated/dedifferentiated liposarcoma is important, because the fibroosseous component may seem so bland that it may be confused with benign metaplasia such as myositis ossificans, or conversely, the lipomatous component may be inconspicuous that it may be dismissed as normal fat, and such misinterpretation may potentially result in suboptimal treatment.
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PMID:Well-differentiated liposarcoma with low-grade osteosarcomatous component: an underrecognized variant. 2069 54

Extraskeletal osteosarcoma is a rare neoplasia within the broad differential diagnostic spectrum of calcifying intramuscular lesions. We present a case of a slowly increasing mass within the left vastus lateralis muscle. At first presentation the patient showed a partially calcified well defined mass with a diameter of 5 cm and with no direct contact to the femur. A biopsy from the periphery revealed an ossifying lesion compatible with myositis ossificans. The patient returned 18 months later with the lesion having increased to a diameter of 25 cm. The resection specimen revealed a well delimitated tumor with a central core of partially necrotic neoplastic bone. Besides, histology showed high mitotic areas with pleomorphic spindle cells and regions with cartilaginous differentiation. Immunohistochemistry demonstrated: vimentin+, CD34-, desmin-, actin-, EMA- and pancytokeratin- with focal S100 protein positivity and a Ki-67 index of 20%. Comparative genomic hybridization (CGH) revealed a gain of chromosomal material on 12q; FISH analyses for the CDK4 and MDM2 region showed high level amplifications. Consequently, a high-grade dedifferentiated extraskeletal osteosarcoma was diagnosed. In conclusion, analysis of the MDM2 and CDK4 status is a powerful and discriminating diagnostic tool to distinguish dedifferentiated extraskeletal osteosarcoma from other benign/malignant ossifying lesions in the skeletal muscle.
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PMID:Immunohistochemical and FISH analysis of MDM2 and CDK4 in a dedifferentiated extraskeletal osteosarcoma arising in the vastus lateralis muscle: differential diagnosis and diagnostic algorithm. 2497 83