近端型上皮样肉瘤中的常见染色体畸变。
Common chromosome aberrations in the proximal type of epithelioid sarcoma.
作者信息
Debiec-Rychter M, Sciot R, Hagemeijer A
机构信息
Center of Human Genetics, Katholieke Universiteit, Leuven, Belgium.
出版信息
Cancer Genet Cytogenet. 2000 Dec;123(2):133-6. doi: 10.1016/s0165-4608(00)00320-4.
A new case of the proximal type of epithelioid sarcoma with a complex karyotype 70-98 <4N>,XX,-X,-X,+5,i(5)(q10),+7,del(7)(q31),i(8)(q10)x3 approximately 4,del(12)(p13),der(18)ins(18:?) (q11;?)del(18)(p11). ish der(18)ins(18;X)del(18)(p11)(wcp18+,wcpX+),+20,+20,dmin [cp9] is described. Both, dual-color FISH using probes specific for OATLI1/OATL2 genes and RT-PCR analysis excluded the presence of t(X;18), typical for synovial sarcoma. Our case together with the previously published ones suggest that the presence of i(8)(q10), losses of 12p and 18p together with the gain of chromosome 20 may represent a common cytogenetic aberrations in the proximal type of epithelioid sarcoma.
报告了1例近端型上皮样肉瘤新病例，其复杂核型为70 - 98 <4N>，XX，-X，-X，+5，i(5)(q10)，+7，del(7)(q31)，i(8)(q10)×3约4，del(12)(p13)，der(18)ins(18;?) (q11;?)del(18)(p11)。ish der(18)ins(18;X)del(18)(p11)(wcp18 +，wcpX +)，+20，+20，dmin [cp9]。使用针对OATLI1/OATL2基因的探针进行双色FISH和RT-PCR分析均排除了滑膜肉瘤典型的t(X;18)的存在。我们的病例与先前发表的病例表明，i(8)(q10)的存在、12p和18p的缺失以及20号染色体的增加可能代表近端型上皮样肉瘤常见的细胞遗传学异常。
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