梭形细胞/多形性脂肪瘤的细胞遗传学：31例肿瘤的核型分析和荧光原位杂交分析
Cytogenetics of Spindle Cell/Pleomorphic Lipomas: Karyotyping and FISH Analysis of 31 Tumors.
作者信息
Panagopoulos Ioannis, Gorunova Ludmila, Lund-Iversen Marius, Andersen Kristin, Andersen Hege Kilen, Lobmaier Ingvild, Bjerkehagen Bodil, Heim Sverre
机构信息
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
出版信息
Cancer Genomics Proteomics. 2018 May-Jun;15(3):193-200. doi: 10.21873/cgp.20077.
BACKGROUND
Spindle cell/pleomorphic lipomas are benign tumors. Here, we present our cytogenetic data on 31 such tumors.
MATERIALS AND METHODS
G-banding chromosome analysis and (in selected cases) fluorescence in situ hybridization (FISH) using probes for FOXO1, RB1, and HMGA2 were performed.
RESULTS
Rearrangements of chromosome 13 were found in 58% of tumors. Chromosomes 6, 1, 12, and 11 were also involved in 42%, 26%, 26%, and 23% of tumors, respectively. FISH analysis showed heterozygous deletion of RB1 in seven samples with chromosome 13 aberrations. In four of them, FOXO1 was also deleted. In two tumors with 12q15 rearrangements, FISH confirmed that HMGA2 was targeted.
CONCLUSION
Structural rearrangements of 13q or losses of an entire chromosome 13 are the most common cytogenetic aberrations in spindle cell/pleomorphic lipomas. However, cytogenetic variation exists similarly to what is found in other lipomas, suggesting that various pathways may be responsible for tumorigenesis.
背景
梭形细胞/多形性脂肪瘤是良性肿瘤。在此，我们展示了31例此类肿瘤的细胞遗传学数据。
材料与方法
进行了G显带染色体分析，并（在选定病例中）使用针对FOXO1、RB1和HMGA2的探针进行荧光原位杂交（FISH）。
结果
58%的肿瘤中发现了13号染色体重排。6号、1号、12号和11号染色体分别也在42%、26%、26%和23%的肿瘤中受累。FISH分析显示，在7个有13号染色体畸变的样本中存在RB1杂合缺失。其中4个样本中，FOXO1也缺失。在2个有12q15重排的肿瘤中，FISH证实HMGA2是靶点。
结论
13q的结构重排或整条13号染色体的缺失是梭形细胞/多形性脂肪瘤最常见的细胞遗传学畸变。然而，与其他脂肪瘤一样存在细胞遗传学变异，提示多种途径可能参与肿瘤发生。
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