双表型鼻窦肉瘤中的交替PAX3-FOXO1致癌融合。
Alternate PAX3-FOXO1 oncogenic fusion in biphenotypic sinonasal sarcoma.
作者信息
Wong Waihay J, Lauria Alexandra, Hornick Jason L, Xiao Sheng, Fletcher Jonathan A, Marino-Enriquez Adrian
机构信息
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
出版信息
Genes Chromosomes Cancer. 2016 Jan;55(1):25-9. doi: 10.1002/gcc.22295. Epub 2015 Sep 10.
Abstract
Biphenotypic sinonasal sarcoma (SNS) is a low grade spindle cell sarcoma that affects middle-aged adults, in which the PAX3-MAML3 chimeric transcription factor induces an aberrant dual myogenic and neuroectodermal phenotype. We report an alternate PAX3-FOXO1 oncogenic fusion in SNS, confirming the crucial role of PAX3 in SNS oncogenesis. The presence of PAX3-FOXO1 in SNS and alveolar rhabdomyosarcoma suggests that these two entities are genetically similar lesions arising from distinct progenitor cell pools. This finding has important implications for the molecular diagnosis of SNS and alveolar rhabdomyosarcoma, and underscores the critical contribution of the cell of origin to the phenotype induced by oncogenic transcription factor reprogramming.
摘要
双表型鼻窦肉瘤（SNS）是一种低级别梭形细胞肉瘤，好发于中年成年人，其中PAX3-MAML3嵌合转录因子可诱导异常的双肌源性和神经外胚层表型。我们报告了SNS中一种新的PAX3-FOXO1致癌融合基因，证实了PAX3在SNS肿瘤发生中的关键作用。PAX3-FOXO1在SNS和肺泡横纹肌肉瘤中的存在表明，这两种实体瘤是源自不同祖细胞池的基因相似性病变。这一发现对SNS和肺泡横纹肌肉瘤的分子诊断具有重要意义，并强调了起源细胞对致癌转录因子重编程诱导的表型的关键作用。
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