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Translocation t(7;19)(q22;q13)?a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?

机译:易位t(7; 19)(q22; q13)?是假性肌源性血管内皮瘤的复发性染色体畸变吗?

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Pseudomyogenic hemangioendothelioma is a recently described morphologic entity among soft tissue tumors. It is more common in young individuals, shows a male predominance, is often multifocal and involves different tissue planes, and shows a high propensity for local recurrence. To our knowledge, no genetic characteristics of this tumor type have been presented before. Here, we describe the finding of a balanced t(7;19)(q22;q13) as the sole anomaly in three lesions from a 14-year-old girl. By means of fluorescence in situ hybridization, the breakpoints could be delineated, but reverse transcriptase?polymerase chain reaction for putative fusion genes did not reveal any fusion transcript. Interphase fluorescence in situ hybridization on sections from nine other pseudomyogenic hemangioendotheliomas indicated the presence of an unbalanced der(7)t(7;19) in one of them. Thus, the translocation between chromosomes 7 and 19 seems to be a recurrent phenomenon and is likely to be of pathogenetic significance in at least a subset of pseudomyogenic hemangioendotheliomas.
机译:假性血管瘤性血管内皮瘤是软组织肿瘤中最近描述的形态学实体。它在年轻人中更常见,显示出男性优势,通常是多灶性的,涉及不同的组织平面,并且显示出局部复发的高度倾向。据我们所知,以前没有出现过这种肿瘤的遗传特征。在这里,我们描述了发现平衡的t(7; 19)(q22; q13)作为来自14岁女孩的三个病变的唯一异常。通过荧光原位杂交可以确定断点,但是推定的融合基因的逆转录酶聚合酶链反应没有发现任何融合转录本。在其他9个假肌原性血管内皮瘤的切片上进行的相间荧光原位杂交表明,其中之一存在不平衡的der(7)t(7; 19)。因此,染色体7和19之间的易位似乎是一种复发现象,并且可能在至少一部分假性肌原性血管内皮瘤中具有致病意义。

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