Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198-3135, USA.
Hum Pathol. 2012 Sep;43(9):1524-9. doi: 10.1016/j.humpath.2012.01.019. Epub 2012 May 9.
Cytogenetic analysis of a primary bone neoplasm with pericytic features in a 67-year-old man revealed a t(7;12)(p22;q13) among other karyotypic abnormalities. Subsequent molecular studies confirmed the presence of an associated ACTB-GLI1 fusion transcript. An identical 7;12 translocation is known to characterize a discrete group of soft tissue tumors belonging to the myopericytic category termed pericytoma with t(7;12). To the best of our knowledge, this is the first case of pericytoma with t(7;12) arising in bone. Cytogenetic and molecular analyses were useful, if not essential, in classifying this rare diagnostic entity.
对一名 67 岁男性的原发性骨肿瘤进行细胞遗传学分析，结果显示存在其他染色体异常外，还存在 t(7;12)(p22;q13)。随后的分子研究证实存在相关的 ACTB-GLI1 融合转录本。众所周知，相同的 7;12 易位特征是一组离散的软组织肿瘤，属于肌周细胞类别，称为伴有 t(7;12)的促结缔组织增生性小圆细胞瘤。据我们所知，这是首例发生在骨中的伴有 t(7;12)的促结缔组织增生性小圆细胞瘤。细胞遗传学和分子分析对于分类这种罕见的诊断实体非常有用，如果不是必不可少的话。
