Atypical osteosarcomas in Werner syndrome (adult progeria)
Atypical osteosarcomas in Werner syndrome (adult progeria)
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DOI：
10.1111/j.1349-7006.2000.tb00924.x
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发表时间：
2000-12-01
期刊：
影响因子：
--
通讯作者：
Goto, M
中科院分区：
文献类型：
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作者：
Ishikawa, Y;Miller, RW;Goto, M
沃纳综合征（WS），成人早衰症，在日本比其他地方更常见。它易患骨肉瘤（OS）和其他五种罕见肿瘤。为了确定OS在这种遗传性疾病中是否以及如何是非典型的，我们研究了10例日本病例的临床特征、病理学和X线片特征，并将其与36例具有相同非典型年龄范围（35-57岁）的骨骼OS的医院系列进行了比较。解剖部位也是非典型的：7个踝关节/足，2个桡骨和1个髌骨，而医院系列中只有1个踝关节。成骨细胞型在两个系列中的频率大致相同，但是，在三种主要亚型之外，WS中只有一种，而医院系列中有14种（39%）。在5例WS合并OS病例中寻找突变类型。1例在日本人的10个已知位点中的任何一个均未显示突变，2例为4/4型，2例为6/6型。突变4和6已被发现在66%的等位基因的WS病例在日本。WS中OS的频率增加以及不寻常的年龄和部位分布可能是由于易感性增加，与晚年腿部溃疡相关，以及下肢皮下组织严重缺失导致细长踝关节负重减弱。
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.