肌周细胞瘤中一种罕见的复杂核型。
An unusual complex karyotype in myopericytoma.
作者信息
James Aaron W, Chang Le, Shrestha Swati, Tirado Carlos A, Dry Sarah M
机构信息
Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
出版信息
J Orthop. 2015 Jan 29;12(1):58-62. doi: 10.1016/j.jor.2015.01.015. eCollection 2015 Mar.
INTRODUCTION
Myopericytoma is a perivascular neoplasm commonly found in the skin and soft tissue of extremities. These lesions often exhibit concentric vascular proliferation of spindle shaped myoid cells.
METHODS/RESULTS: We present a case of a 76-year old male who was diagnosed with myopericytoma and subsequent cytogenetic analysis found a highly abnormal karyotype. This karyotype includes cytogenetic mutations that have not been described in previous case studies of myopericytoma.
CONCLUSIONS
Some of these aberrations occur on genes that are involved in hedgehog signaling as well as pericyte proliferation, indicating a potential pericyte origin for myopericytoma tumors.
引言
肌周细胞瘤是一种常见于四肢皮肤和软组织的血管周围肿瘤。这些病变通常表现为梭形肌样细胞的同心性血管增生。
方法/结果：我们报告一例76岁男性被诊断为肌周细胞瘤，随后的细胞遗传学分析发现其核型高度异常。该核型包括在先前肌周细胞瘤病例研究中未描述的细胞遗传学突变。
结论
其中一些畸变发生在参与刺猬信号通路以及周细胞增殖的基因上，这表明肌周细胞瘤可能起源于周细胞。
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