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比较基因组杂交技术能否揭示平滑肌肉瘤与恶性纤维组织细胞瘤在DNA拷贝数序列模式上的明显差异?

Does comparative genomic hybridization reveal distinct differences in DNA copy number sequence patterns between leiomyosarcoma and malignant fibrous histiocytoma?

作者信息

Larramendy Marcelo L, Gentile Massimiliano, Soloneski Sonia, Knuutila Sakari, Böhling Tom

机构信息

Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, P.O. Box 21 (Haartmaninkatu 3), FI-00014 University of Helsinki, Helsinki, Finland

出版信息

Cancer Genet Cytogenet. 2008 Nov;187(1):1-11. doi: 10.1016/j.cancergencyto.2008.06.005.

Abstract

Leiomyosarcoma (LMS) is the third most common type of soft tissue sarcoma after malignant fibrous histiocytoma (MFH) and liposarcoma. Comparative genomic hybridization (CGH) has shown similar DNA copy number imbalances in LMS and MFH. It has been suggested that both tumors may correspond to different differentiation states of a single tumor entity and that a large proportion of MFHs could correspond to undifferentiated LMS. We report CGH results from 102 MFH and 82 LMS cases, as well as a subsequent clustering analysis. The distribution pattern of DNA copy number changes could not differentiate LMS from MFH, suggesting that most MFHs could represent an ultimate state of tumor progression of LMS. Even if an oncogenic pattern common to LMS and MFH is valid, the genes relevant to smooth muscle cell differentiation may reside in one or more chromosomal imbalances that are not shared by both tumor types. Further explorative analysis identified a small cluster of tumors (9% of the samples: 2 LMS and 10 MFH) characterized by the presence of high-level amplifications at 1p33 approximately p34.3, 17q22 approximately q23, 17q25 approximately qter, 19p, 22p, and 22q, and associated with a higher proportion of tumors located in the thigh (P=0.003) and with male sex (P=0.079).

摘要

平滑肌肉瘤(LMS)是继恶性纤维组织细胞瘤(MFH)和脂肪肉瘤之后第三常见的软组织肉瘤类型。比较基因组杂交(CGH)显示LMS和MFH中存在相似的DNA拷贝数失衡。有人提出这两种肿瘤可能对应于单个肿瘤实体的不同分化状态,并且很大一部分MFH可能对应于未分化的LMS。我们报告了102例MFH和82例LMS病例的CGH结果以及随后的聚类分析。DNA拷贝数变化的分布模式无法区分LMS和MFH,这表明大多数MFH可能代表LMS肿瘤进展的最终状态。即使LMS和MFH共有的致癌模式是有效的,但与平滑肌细胞分化相关的基因可能存在于两种肿瘤类型未共享的一个或多个染色体失衡中。进一步的探索性分析确定了一小群肿瘤(占样本的9%:2例LMS和10例MFH),其特征是在1p33至p34.3、17q22至q23、17q25至qter、19p、22p和22q处存在高水平扩增,并且与大腿部位肿瘤比例较高(P = 0.003)以及男性性别(P = 0.079)相关。

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