Anastomosing Haemangioma: Report of Three Cases With Molecular and Immunohistochemical Studies and Comparison With Well-Differentiated Angiosarcoma

被引:1
|
作者
Chang Chien, Yi-Che [1 ]
Beke, Livia [1 ]
Mehes, Gabor [1 ]
Mokanszki, Attila [1 ]
机构
[1] Univ Debrecen, Fac Med, Dept Pathol, Debrecen, Hungary
关键词
angiosarcoma; anastomosing haemangioma; immunohistochemistry (IHC); fluorescence in situ hybridization (FISH); next-generation sequencing (NGS); GNA11; mutation; MUTATIONS; GNAQ; MAPK;
D O I
10.3389/pore.2022.1610498
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Anastomosing haemangioma (AH) is a newly described distinct vascular neoplasm that histologically may confuse with well-differentiated angiosarcoma (AS) for those who are unfamiliar with this rare entity. We aimed to identify molecular genetic differences between AHs and ASs by carrying out immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). Immunohistochemically, all six cases showed positivity for cyclinD1 and pERK. All cases of AH showed focal weak positive reaction for p53 and MIB-1, and the IHCs for HIF-1 alpha were all negative for all three cases. Those three cases of angiosarcoma revealed strong, diffuse positivity for p53, 50%-70% MIB-1 labelling, and multifocal, moderate to strong HIF-1 alpha expression. To further clarify the difference in p53 expression, we carried out a FISH which revealed 17p polysomy in all three ASs whereas copy number aberration was absent in the AH group. In one AH case, the GNA11 c.627G > T nucleotide variant was detected. Due to the rarity and overlapping morphological features, AH might be difficult to separate from other vascular tumours, in particular from well-differentiated AS also featured by mild hyperchromatic, hobnail-like endothelial cells. The potential molecular differences between these two entities presented here may be used in support of the correct diagnosis.
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页数:6
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