Panagopoulos Ioannis, Gorunova Ludmila, Bjerkehagen Bodil, Andersen Kristin, Lund-Iversen Marius, Heim Sverre
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, P.O.Box 4953, Nydalen, NO-0424, Oslo, Norway.
Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Diagn Pathol. 2017 Feb 13;12(1):17. doi: 10.1186/s13000-017-0607-6.
Cellular angiofibroma is a rare benign mesenchymal neoplasm with morphological and immunohistochemical similarities to spindle cell lipoma. Karyotypic information on cellular angiofibroma is restricted to one case only which showed loss of material from chromosomes 13 and 16. A few other studies using fluorescence in situ hybridization showed deletions of the RB1 and FOXO1 loci, both of which are located in chromosome band 13q14. We present here cytogenetic data on two cellular angiofibromas with an abnormal karyotype.
G-banding and fluorescence in situ hybridization (FISH) analyses were done on two cellular angiofibromas.
In both tumors, a rearrangement leading to loss of chromosome 13 material was seen, together with other structural chromosome abnormalities. FISH analysis showed heterozygous deletion of the RB1 locus (13q14) in both cases.
Our results demonstrate loss of chromosome 13 material in cellular angiofibroma, though not as the sole cytogenetic change, confirming the (cyto)genetic similarity of these tumors with spindle cell lipomas.
细胞性血管纤维瘤是一种罕见的良性间叶性肿瘤，在形态学和免疫组化方面与梭形细胞脂肪瘤相似。关于细胞性血管纤维瘤的核型信息仅局限于1例，该病例显示13号和16号染色体物质缺失。其他一些使用荧光原位杂交的研究显示RB1和FOXO1基因座缺失，这两个基因座均位于13q14染色体带。我们在此展示两例核型异常的细胞性血管纤维瘤的细胞遗传学数据。
对两例细胞性血管纤维瘤进行G显带和荧光原位杂交（FISH）分析。
在这两例肿瘤中，均可见导致13号染色体物质缺失的重排，以及其他染色体结构异常。FISH分析显示两例均存在RB1基因座（13q14）杂合性缺失。
我们的结果表明细胞性血管纤维瘤存在13号染色体物质缺失，尽管这并非唯一的细胞遗传学改变，证实了这些肿瘤与梭形细胞脂肪瘤在（细胞）遗传学上的相似性。
