Chromosomal Translocations in Human Soft Tissue Sarcomas : Fluorescence in Situ Hydridization as a Diagnostic Aid

为了评价软组织肉瘤的荧光原位杂交(FISH)表现，阐明其组织学肿瘤类型与染色体重排的关系，我们检测了47例软组织肉瘤石蜡包埋组织间期细胞核中的三种易位。用着丝粒和全涂片探针的染色体特异性DNA探针对易位进行评估。在47例软组织囊瘤中，42例(89.4%)通过复查染色体分析发现了东帝汶特有的易位。在28例滑膜肉瘤中有25例检测到t(X；1 8)易位，在5例尤文氏肉瘤和原始神经外胚层肿瘤中检测到t(11；22)易位，在13例脂肪肉瘤中检测到12例t(12；16)易位，其中包括10种黏液样细胞和2种圆形细胞类型，这两种类型都不是滑膜肉瘤和原始神经外胚层肿瘤所特有的。其他易位t(12；16)的细胞遗传学结果表明，圆形细胞脂肪肉瘤与粘液样脂多糖有共同的染色体改变，进一步提示两种肿瘤可能都具有共同的前体细胞。对一例42岁女性软骨粘液样纤维瘤进行了核型分析，发现了包括t(1；12)在内的复杂的染色体融合模式。

To evaluate fluorescence in stu hybridization (FISH) findings of soft tissue sarcomas and clarify the relation between their hisological tumor types and chromosomal rearrangements, we examined three kinds of translocations in the interphase nuclei isolated from paraffin-embedded tissues of 47 soft tissue sarcomas. Translocations were evaluated using chromosome-specific DNA probes of centromeric and whole painting probes.Of 47 soft tissue sacomas, 42 (89.4%) revealed timor-specific translocations by etrospective chromosomal analysis. Translocation t(X ; 1 8) was detected in 25/28 synovi al sarcomas ; translocation t(11 ; 22) in 5/6 Ewing's sarcomas and primitive neuroectodermal tumors (PNET) ; and translocation t(12 ; 16) was found in 12/13 liposarcomas (LPS), including 10 myxoid and 2 round cell types as don aichrom osoma I aberrations specific for both subtypes.Based on these findings, Ewing's sarcoma is related closely with PNET originating in neuroectodermal tissue. Other cytogenetic finding of translocation t(12 ; 16) indicates the round cell liposarcoma shares chromosomal change with myxoid LPS, and further suggests that both tumors may possess common prcursor cells.Karyotypic analysis was performed on a case of chondromyxoid fibroma arising in 42-year-old, female and revealed a complex pattern of chromosomal abberation including t(1 ; 12).