Kiuru-Kuhlefelt S, El-Rifai W, Sarlomo-Rikala M, Knuutila S, Miettinen M
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Mod Pathol. 1998 Mar;11(3):227-31.
Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft tissue sarcoma typically occurring in children and young adults. Although the tumor often shows focal expression of muscle markers, its relationship with rhabdomyosarcoma is not established. The genetic background of ASPS is poorly understood. This study was undertaken to analyze the DNA copy number changes in 13 cases of ASPS using comparative genomic hybridization (CGH) on formaldehyde-fixed, paraffin-embedded tissue sections. Four ASPS cases showed DNA copy number changes. Gains were more common than losses. Gains observed in more than one case included 1q, 8q, 12q and 16p. Although these findings do not show consistent DNA copy number changes in ASPS, they give preliminary clues to genomic areas that might be important in the pathogenesis of ASPS.
肺泡软组织肉瘤（ASPS）是一种罕见的、组织学上具有独特特征的软组织肉瘤，通常发生于儿童和年轻人。尽管该肿瘤常显示肌肉标志物的局灶性表达，但其与横纹肌肉瘤的关系尚未明确。ASPS的遗传背景了解甚少。本研究采用比较基因组杂交（CGH）技术，对13例甲醛固定、石蜡包埋组织切片的ASPS病例进行DNA拷贝数变化分析。4例ASPS病例显示有DNA拷贝数变化。获得性改变比缺失性改变更常见。在不止1例病例中观察到的获得性改变包括1q、8q、12q和16p。尽管这些发现并未显示ASPS存在一致的DNA拷贝数变化，但它们为可能在ASPS发病机制中起重要作用的基因组区域提供了初步线索。
