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)

We report a rare case of Maffucci's syndrome combined with dedifferentiated chondrosarcoma in the right shoulder girdle developing from pre-existing enchondroma. In this case, magnetic resonance imaging was useful in diagnosing dedifferentiated chondrosarcoma before surgery. T2-weighted imaging was used to distinguish between the cartilaginous component and the dedifferentiated one. Histologically, there was enchondroma in the humerus and grade 2 chondrosarcoma in the scapula. Further, the dedifferentiated tumor had three mesenchymal elements: osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. This histological heterogenicity may be due to mesodermal dysplasia of Maffucci's syndrome.
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PMID:Maffucci's syndrome combined with dedifferentiated chondrosarcoma. 193 71

In a tri-institutional, retrospective study with long-term follow-up, forty-four patients who had multiple enchondromas were identified. Thirty-seven patients did not have hemangiomas (Ollier disease) and seven did (Maffucci syndrome). Of the thirty-seven patients who had Ollier disease, a low-grade chondrosarcoma developed in four; an astrocytoma, in one; and a granulosa-cell ovarian tumor, in one. In four of the seven patients who had Maffucci syndrome, there were six low-grade chondrosarcomas, one high-grade osteosarcoma, one pancreatic adenocarcinoma, one biliary adenocarcinoma, and one astrocytoma. None of the patients in either group died of the skeletal sarcoma, but four of five patients who had a non-skeletal malignant lesion died. From life-table analyses of these patients, we estimated that the incidence of secondary chondrosarcoma in patients who have Ollier disease is about 25 per cent at the age of forty years, and that malignant degeneration is almost a certainty in patients who have Maffucci syndrome. We concluded that periodic surveillance of the brain and abdomen for occult malignant lesions is indicated in patients who have enchondromatosis.
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PMID:The malignant potential of enchondromatosis. 380 90

Topics discussed in this article include osteogenic sarcoma, osteoid osteoma, osteoblastoma, chondrosarcoma, chondromyxoid fibroma, chondroblastoma, chondroma, Ollier's disease, Maffucci's syndrome, osteochondroma, hereditary multiple exostoses, unicameral bone cyst, fibrous dysplasia, Albright's syndrome, nonossifying fibroma, giant cell tumor, Ewing's sarcoma, and metastasis. Numerous radiographs, CT scans, MR images, arteriograms, and photomicrographs supplement the text.
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PMID:Differential diagnosis of pedal osseous neoplasms. 822 46

Maffucci's syndrome is a rare nonhereditary malformation of mesodremal dysplasia origin which consists of multiple hemangiomas of the soft tissue and multiple enchondromas. Only approximately 170 cases of this disease have been reported in the literature. Maffucci's syndrome is known to be associated with tumors of mesodermal origin. Chondrosarcoma, osteosarcoma and angiosarcoma are the most common malignant neoplasms and the benign tumors consist of pituitary adenoma, adrenal cortical adenoma, parathyroid adenoma, thyroid adenoma and breast fibroadenoma. We present a case report of a 26-year old female patient with Maffucci's syndrome and a giant thorax tumor composed of fibroadenoma and canalicular adenoma.
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PMID:[Maffucci's syndrome with giant tumor of the thoracic wall]. 1467

Maffucci's syndrome is a rare sporadic congenital disorder associated with multiple enchondromas and soft tissue hemangiomas. These bone and soft tissue tumors have the potential of malignant transformation to various histologic types: chondrosarcoma, osteosarcoma, fibrosarcoma, and angiosarcoma. We report a rare case of Maffucci's syndrome with soft tissue angiosarcoma of the leg to illustrate MRI findings with pathologic correlations.
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PMID:MR features of angiosarcoma in a patient with Maffucci's syndrome. 1648 43

Somatic mutations of isocitrate dehydrogenase (IDH) 1 and IDH2 occur in gliomas, acute myeloid leukemia, and cartilaginous tumors. Somatic mosaic IDH1/2 mutations are also reported in Ollier disease and Maffucci syndrome, which are characterized by multiple central cartilaginous tumors. Although IDH1/2 mutation analysis against osteosarcoma has been performed in several studies, no IDH1/2 mutation has been reported. Herein, we newly report the IDH2-R172S mutation in three of 12 (25%) osteosarcoma patients, which was detected by direct DNA sequencing. No monoclonal antibody (mAb) has been reported against IDH2-R172S mutation. However, we demonstrate that the IDH2-R172S peptide was recognized by our established multi-specific anti-mutated IDH1/2 mAb, MsMab-1, in enzyme-linked immunosorbent assay. Western blot analysis revealed that MsMab-1 reacts with PA tag combined recombinant proteins of IDH2-R172S. Furthermore, MsMab-1 stained IDH2-R172S-expressing osteosarcoma tissues in immunohistochemistry. The MsMab-1 stained nine of 32 (28.1%) osteosarcomas in a tissue microarray. This report is the first describing IDH2 mutations in osteosarcoma, which can be detected by MsMab-1 mAb. Taken together, these results show that MsMab-1 can be anticipated for use in immunohistochemical determination of IDH1/2 mutation-bearing osteosarcoma.
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PMID:Isocitrate dehydrogenase 2 mutation is a frequent event in osteosarcoma detected by a multi-specific monoclonal antibody MsMab-1. 2440 54