IDH mosaicism in enchondromatosis syndromes
نویسندگان
چکیده
منابع مشابه
Mutant IDH is sufficient to initiate enchondromatosis in mice.
Enchondromas are benign cartilage tumors and precursors to malignant chondrosarcomas. Somatic mutations in the isocitrate dehydrogenase genes (IDH1 and IDH2) are present in the majority of these tumor types. How these mutations cause enchondromas is unclear. Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and studied their effects in mice. A broad ran...
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IDH mutations are found in the majority of adult, diffuse, low-grade and anaplastic gliomas and are also frequently found in cartilaginous tumors. Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. In addition to skeletal tumors, enchondromatosis patien...
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In contrast to solitary enchondroma,patients with multiple enchondromatosis of bone (Ollier's disease) get affected in childhood by bone swelling and growth retardation. In adults, the main problem is the risk of malign transformation up to 40%.Pain, increasing local tumor and thinning of the corticalis are the typical clinical and radiological signs of transformation to a low grade chondrosarc...
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Address for Correspondence: Dr. ASHFAQ UL HASSAN MBBS MS Lecturer Anatomy SKIMS MEDICAL COLLEGE, Kashmir, India. E-Mail: [email protected] Access this Article online Quick Response code Web site: *1 Lecturer Anatomy SKIMS Medical College, Kashmir, India. 2 Dental Surgeon, SKIMS Soura, India 3 Prof and Head Al Qassim University Saudi Arabia. 4 Physician Directorate Health Kashmir, India I...
متن کاملMultiple Enchondromatosis (Ollier's Disease)
=Abstract=Enchondromatosis is a rare disease which accounts of 0.46'!;, of all bone tumors. This report deals with pathologic analysis of 3 cases which were tudied at Depautment of Pathology for the last 5 years. 1983-1988. There were two females aged 19 years and 32 years and one 17-year-old male. Family history was negative in all cases. Hand bones were most commonly involved. One of three ca...
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ژورنال
عنوان ژورنال: Nature Reviews Cancer
سال: 2011
ISSN: 1474-175X,1474-1768
DOI: 10.1038/nrc3194