Mrózek K, Szumigala J, Brooks J S, Crossland D M, Karakousis C P, Bloomfield C D
Cytogenetics Research Laboratory, Division of Medicine, Roswell Park Cancer Institute, Buffalo, New York, USA.
Am J Clin Pathol. 1997 Jul;108(1):35-9.
Cytogenetic analysis of a short-term culture from a round cell liposarcoma revealed ins(12;16)(q13;p11.2p13) as a sole abnormality in all metaphase cells studied. This chromosome rearrangement, thus far not described in liposarcomas, leads to recombination of bands 12q13 and 16p11.2 and, thus, seems to be the equivalent of t(12;16)(q13;p11), a translocation that is highly specific for the myxoid type of liposarcoma. Our case represents the fourth fully karyotyped round cell liposarcoma that displays a cytogenetic rearrangement of bands 12q13 and 16p11, thus supporting the concept that round cell liposarcoma is related to myxoid liposarcoma and constitutes its poorly differentiated form. The fact that ins(12;16) was the only detectable chromosome aberration suggests that the presence of secondary cytogenetic aberrations is not a prerequisite for the development of a round cell histology in liposarcoma.
对一例圆形细胞脂肪肉瘤的短期培养物进行细胞遗传学分析发现，在所研究的所有中期细胞中，ins(12;16)(q13;p11.2p13)是唯一的异常。这种染色体重排，迄今为止在脂肪肉瘤中尚未见报道，导致12q13和16p11.2带的重组，因此似乎等同于t(12;16)(q13;p11)，一种对黏液样型脂肪肉瘤高度特异的易位。我们的病例是第四例完全核型分析的圆形细胞脂肪肉瘤，显示12q13和16p11带的细胞遗传学重排，从而支持圆形细胞脂肪肉瘤与黏液样脂肪肉瘤相关并构成其低分化形式的概念。ins(12;16)是唯一可检测到的染色体畸变这一事实表明，继发性细胞遗传学畸变的存在并非脂肪肉瘤中圆形细胞组织学发生的先决条件。
