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假血管瘤样多形性/梭形细胞脂肪瘤的细胞遗传学分析

Cytogenetic Analysis of a Pseudoangiomatous Pleomorphic/Spindle Cell Lipoma.

作者信息

Panagopoulos Ioannis, Gorunova Ludmila, Lobmaier Ingvild, Andersen Hege Kilen, 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

Anticancer Res. 2017 May;37(5):2219-2223. doi: 10.21873/anticanres.11557.

Abstract

BACKGROUND

Pseudoangiomatous pleomorphic/spindle cell lipoma is a rare subtype of pleomorphic/spindle cell lipoma. Only approximately 20 such tumors have been described. Genetic information on pseudoangiomatous pleomorphic/spindle cell lipoma is restricted to a single case in which deletion of the forkhead box O1 (FOXO1) gene was found, using fluorescence in situ hybridization (FISH).

MATERIALS AND METHODS

G-banding and FISH analyses were performed on a pseudoangiomatous pleomorphic/spindle cell lipoma.

RESULTS

G-banding of tumor cells showed complex karyotypic changes including loss of chromosome 13. FISH analysis revealed that the deleted region contained the RB1 gene (13q14.2) and the part of chromosome arm 13q (q14.2-q14.3) in which spans the TRIM13 gene, the two non-coding RNA genes, DLEU1 and DLEU2, and the genetic markers RH44686 and D13S25.

CONCLUSION

Several acquired genomic aberrations were found in the tumor. Among them was loss of chromosome 13 material. Results confirm the (cyto)genetic similarity between pseudoangiomatous pleomorphic/spindle cell lipoma and spindle cell lipomas.

摘要

背景

假血管瘤样多形性/梭形细胞脂肪瘤是多形性/梭形细胞脂肪瘤的一种罕见亚型。仅报道过约20例此类肿瘤。关于假血管瘤样多形性/梭形细胞脂肪瘤的遗传信息仅限于1例,该例通过荧光原位杂交(FISH)发现叉头框O1(FOXO1)基因缺失。

材料与方法

对1例假血管瘤样多形性/梭形细胞脂肪瘤进行G显带和FISH分析。

结果

肿瘤细胞的G显带显示复杂的核型改变,包括13号染色体缺失。FISH分析显示缺失区域包含RB1基因(13q14.2)以及13号染色体长臂(q14.2-q14.3)的一部分,该部分包含TRIM13基因、两个非编码RNA基因DLEU1和DLEU2以及遗传标记RH44686和D13S25。

结论

在该肿瘤中发现了几种获得性基因组畸变。其中包括13号染色体物质缺失。结果证实了假血管瘤样多形性/梭形细胞脂肪瘤与梭形细胞脂肪瘤之间的(细胞)遗传学相似性。

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