Pedeutour F, Coindre J M, Sozzi G, Nicolo G, Leroux A, Toma S, Miozzo M, Bouchot C, Hecht F, Ayraud N
Laboratoire de Génétique Moléculaire des Cancers Humains, URA CNRS, Nice, France.
Cancer Genet Cytogenet. 1994 Aug;76(1):1-9. doi: 10.1016/0165-4608(94)90060-4.
Mystery surrounds the mechanisms by which the uncommon cutaneous tumor dermatofibrosarcoma protuberans (DP) arises and progresses. A clue may be at hand in the form of extra abnormal chromosomes (one of three ring chromosomes per case with or without other chromosome abnormalities) seen in some 10 cases, including five cases in our experience. The specificity of the rings to DP would be enhanced if the rings were found to contain a contribution from a constant chromosome. We here report fluorescence in situ hybridization (FISH) results bearing on the chromosomal content of DP rings, together with clinical, pathologic, and cytogenetic documentation of our first two cases, which were briefly reported earlier, and three new DP cases. To dissect a translocation (in our 2nd case), we probed by FISH and discovered chromosome 17 sequences in the rings in all five DP cases. Nonfluorescent bands were seen on some rings painted with a whole chromosome 17 probe, indicating the presence in these rings of foreign chromosome sequences. The complexity of the rings was underscored by the detection in only one case of chromosome 17 centromeric sequences. The situation in DP seems to have parallels to that in well-differentiated liposarcoma, another tumor of intermediate malignancy with extra abnormal marker chromosome containing contributions from a constant chromosome and variable donors. In DP the supernumerary rings are clearly specific and significant.
罕见的皮肤肿瘤隆突性皮肤纤维肉瘤（DP）的发生和发展机制仍是个谜。在大约10例病例中发现了额外的异常染色体（每例有三条环状染色体中的一条，伴有或不伴有其他染色体异常），这可能是一条线索，其中包括我们所诊治的5例。如果发现这些环状染色体包含来自某一恒定染色体的成分，那么其对DP的特异性将得到增强。我们在此报告关于DP环状染色体的荧光原位杂交（FISH）结果，以及我们最初简要报告过的前两例DP病例和三例新病例的临床、病理及细胞遗传学资料。为剖析一例易位（我们的第2例病例），我们通过FISH进行检测，发现所有5例DP病例的环状染色体中均有17号染色体序列。在用整条17号染色体探针标记的一些环状染色体上可见非荧光带，表明这些环状染色体中存在外源染色体序列。仅在一例中检测到17号染色体着丝粒序列，这凸显了环状染色体的复杂性。DP的情况似乎与高分化脂肪肉瘤类似，后者是另一种中度恶性肿瘤，其额外的异常标记染色体包含来自某一恒定染色体和可变供体的成分。在DP中，额外的环状染色体显然具有特异性且意义重大。
