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)

Werner syndrome (WS), adult progeria, is more common in Japan than elsewhere. It predisposes to osteosarcoma (OS) and five other rare tumors. To determine if and how OS is atypical in this genetic disorder, we studied the characteristics of ten Japanese cases with respect to clinical features, pathology, and radiographs, and compared them with a hospital series of 36 skeletal OS with the same atypical age-range, 35 - 57 years. The anatomic sites were also atypical: seven ankle / foot, two radius and one patella compared with only one at the ankle in the hospital series. The osteoblastic cell-type was about equally frequent in both series, but, among others than the three major subtypes, there was only one in WS as compared with 14 (39%) in the hospital series. The types of mutations were sought in five WS cases with OS. One showed no mutation at any of the ten known loci for Japanese, two were of type 4 / 4 and two of type 6 / 6. The mutations 4 and 6 have been found in 66% of alleles of WS cases in Japan. The increased frequency and unusual age and site distributions of OS in WS may be due to increased susceptibility, related to later-life leg ulcers, and weight-bearing on spindly ankles weakened by severe loss of lower limb subcutaneous tissue.
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PMID:Atypical osteosarcomas in Werner Syndrome (adult progeria). 1112 36

A forty-four-year old man was hospitalized for diagnosis and treatment of a left leg ulcer which did not heal despite good compliance with a three-month medical regimen. Twenty years before he had undergone surgical curettage and radiotherapy (81 gy) for an osteosarcoma of the upper third of the left tibia. He was considered completely cured with regular findings. On examination he had a 5 X 7 cm deep ulcer with raised margins and no signs of infection, localized on the radiodermatitis on the medial aspect of his left leg. Arterial examination confirmed the left arteriopathy with absence of distal pulses; the Ankle Brachial Pressure Index was 0.69 and the foot TcPO2 27 mmHg. Arteriography confirmed the localized left lesions with three distal popliteal and proximal arterial occlusions, all other arteries being strictly normal. Arterial and dermatological radiation leg ulcer was retained as the etiological diagnosis. As the ulcer was very painful, extensive and limited walking distance, surgical revascularisation was undertaken because endoluminal revascularization was impossible. A femoroperoneal saphenous bypass was performed with surgical incisions beyond the radiodermatitis area. Two months after a split skin graft, the ulcer was considered healed and the patency of the by-pass confirmed on duplex examination. This is the first case report of a successful distal by-pass performed for radiation arteritis and ulcer healing. Long-term follow up should be reported.
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PMID:[Radiation arteritis- and radiodermitis-induced leg ulcer: surgical revascularization]. 1660 28