Somatic copy number losses on chromosome 9q21.33q22.33 encompassing the PTCH1 loci associated with cardiac fibroma

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• 作者：Qianqian Zhang^a ; ¹ ; Tongjian Wang^a ; ¹ ; Dong Wang^a ; Jinxiu Liu^a ; Wenqian Yu^a ; Xiangju Liu^b ; Xiaoli Xiang^c ; Kai Dong^a ; Feng You^a ; Guichun Zhang^a ; Jifeng Ju^a ; Meng Zhu^a ; Wenyuan Duan^a ; ² ; ^{dwy2115@126.com" class="auth_mail" title="E-mail the corresponding author} ; Bin Qiao^a ; ² ; ^{cijnmd@outlook.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Somatic copy number loss ; 9q21.33q22.33 ; Cardiac fibroma ; PTCH1
• 刊名：Cancer Genetics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：208
• 期：12
• 页码：615-620
• 全文大小：2029 K

文摘

Cardiac fibroma is an extremely rare benign tumor that remains poorly characterized genetically. Somatic copy number alterations are common in tumors and have been defined as a crucial factor leading to tumors. In this study, we present a child diagnosed with cardiac fibroma with somatic copy number losses of a total of three discontinuous segments from 9q21.33 to 9q22.33, including a mosaic deletion of PTCH1. PTCH1 has been associated with sporadic cardiac fibroma. Sequencing analysis of the PTCH1 gene has not revealed any causative mutation. Quantitative PCR analysis of PTCH1 further confirms somatic copy number losses. Our data narrow down the critical causative deletions for sporadic cardiac fibroma to a region more precise than any other previously reported one. Our results suggest important roles of somatic copy number losses on chromosome 9q21.33q22.33 in the development of sporadic cardiac fibroma; these findings may provide a better understanding of sporadic cardiac fibroma pathogenesis and contribute to the identification of novel diagnostic biomarkers of this neoplasm.