title: Somatic copy number losses on chromosome 9q21.33q22.33 encompassing the PTCH1 loci associated with cardiac fibroma.
abstract: 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. .
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Qianqian
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Tongjian
authors.initials: T
authors.lastname: Wang
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Wang
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Jinxiu
authors.initials: J
authors.lastname: Liu
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Wenqian
authors.initials: W
authors.lastname: Yu
authors.affiliation: Genetics Diagnostic Lab, Tai'an Health Center for Women and Children, Tai'an, China.
authors.forename: Xiangju
authors.initials: X
authors.lastname: Liu
authors.affiliation: Medical Information Institute of Sichuan Province, Chengdu, China.
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Xiang
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Dong
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Feng
authors.initials: F
authors.lastname: You
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Guichun
authors.initials: G
authors.lastname: Zhang
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Jifeng
authors.initials: J
authors.lastname: Ju
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China.
authors.forename: Meng
authors.initials: M
authors.lastname: Zhu
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China. Electronic address: dwy2115@126.com.
authors.forename: Wenyuan
authors.initials: W
authors.lastname: Duan
authors.affiliation: Institute of Cardiovascular Disease, General Hospital of Ji'nan Military Region, Ji'nan, China. Electronic address: cijnmd@outlook.com.
authors.forename: Bin
authors.initials: B
authors.lastname: Qiao
mesh_terms: D002675:Child, Preschool; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D005350:Fibroma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D017353:Gene Deletion; D006338:Heart Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface
keywords: 9q21.33q22.33; Cardiac fibroma; PTCH1; Somatic copy number loss