Saito M, Tsukamoto T, Takahashi T, Sai K, Fujii H, Nagashima K
Laboratory of Molecular and Cellular Pathology, Hokkaido University School of Medicine, Sapporo 060-8638, Japan.
J Clin Pathol. 2004 Feb;57(2):221-4. doi: 10.1136/jcp.2003.10330.
The occurrence of angiomyolipoma (AML) in tissue other than the kidney is uncommon, as is multiple AML developing exclusively in organs other than the kidney. This report describes a case in which AML occurred multifocally in the liver and lung, but spared the kidney, and which might have been associated with tuberous sclerosis complex (TSC). A Japanese woman underwent a partial hepatectomy for a suspected malignant liver tumour at the age of 57. The tumour consisted predominantly of a trabecular arrangement of myoid cells with a sinusoidal pattern and inflammatory cell infiltration, and was diagnosed as a primary liver AML by HMB-45 immunoreactivity. Five years later, multiple nodules were found in both lungs, for which video assisted thoracic surgery was performed. The tumour showed a mixture of epithelioid cells containing HMB-45 positive material and mature lipocytes, and was subsequently diagnosed as AML. Molecular analysis of both lesions showed no allelic loss of the TSC1 and TSC2 regions. Molecular analysis of the tumours ruled out an association with TSC, and both liver and lung lesions displayed benign histological features, so that these were probably multifocal lesions of AML without TSC.
血管平滑肌脂肪瘤(AML)发生于肾脏以外的组织并不常见,仅在肾脏以外的器官发生多发性AML也不常见。本报告描述了1例AML在肝脏和肺脏多灶性发生但未累及肾脏的病例,该病例可能与结节性硬化症(TSC)相关。一名57岁日本女性因疑似肝脏恶性肿瘤接受了部分肝切除术。肿瘤主要由呈小梁状排列的肌样细胞组成,伴有窦状模式和炎症细胞浸润,通过HMB - 45免疫反应性诊断为原发性肝脏AML。5年后,双肺发现多个结节,为此进行了电视辅助胸腔镜手术。肿瘤表现为含有HMB - 45阳性物质的上皮样细胞和成熟脂肪细胞的混合物,随后被诊断为AML。对两个病灶的分子分析显示TSC1和TSC2区域无等位基因缺失。肿瘤的分子分析排除了与TSC的关联,肝脏和肺部病灶均显示良性组织学特征,因此这些可能是无TSC的AML多灶性病变。