Array-comparative Genomic Hybridization Analysis of Alveolar Soft Part Sarcoma
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Background : Alveolar soft part sarcomas (ASPSs) are rare, histologically distinctive soft tissue sarcomas of unknown origin. Although ASPSs are characterized by a specific alteration, der(17)t(X;17)(p11;q25), the entire spectrum of genetic events underlying the pathogenesis of ASPS is unclear. Using array-based comparative genomic hybridization (array-CGH), we examined the DNA copy number changes in ASPS. Methods : Array-CGH, composed of 4,030 clones, was performed in two samples of fresh frozen tumor tissues from a 29-year-old male and a 16-year-old female. Results : We identified 16 commonly altered chromosomal regions involving 25 genes. Eleven altered regions were located on chromosome Xp (Xp22.33, Xp22.11, Xp11.3, Xp11.3-Xp11.23, Xp22.2, Xp22.12, Xp22.31, Xp22.32, Xp21.1, Xp21.3, and Xp11.4). Additional regions with an increased copy number were observed at 1q25.1, 7q35, 12p12.1, and 17p11.2. Loss was found in only one region of chromosome 22q11.23. Several genes located within the amplified region of Xp included GYG2, ARSD, ARSE, ARSH, UBE1, USP11, PCTK1, ARAF, SYN1, TIMP1, XK, PDK3, PCYT1B, PHEX, ARX, RPS6KA3, TMSB4X, TMEM27, BMX, and KAL1. Conclusions : This was the first application report of genomewide copy number changes by BAC array-CGH in ASPSs. Our study showed unique genomic regions and new candidate genes that suggest a neural origin and are associated with tumor pathogenesis in ASPSs.
Abstract
Background : Alveolar soft part sarcomas (ASPSs) are rare, histologically distinctive soft tissue sarcomas of unknown origin. Although ASPSs are characterized by a specific alteration, der(17)t(X;17)(p11;q25), the entire spectrum of genetic events underlying the pathogenesis of ASPS is unclear. Using array-based comparative genomic hybridization (array-CGH), we examined the DNA copy number changes in ASPS. Methods : Array-CGH, composed of 4,030 clones, was performed in two samples of fresh frozen tumor tissues from a 29-year-old male and a 16-year-old female. Results : We identified 16 commonly altered chromosomal regions involving 25 genes. Eleven altered regions were located on chromosome Xp (Xp22.33, Xp22.11, Xp11.3, Xp11.3-Xp11.23, Xp22.2, Xp22.12, Xp22.31, Xp22.32, Xp21.1, Xp21.3, and Xp11.4). Additional regions with an increased copy number were observed at 1q25.1, 7q35, 12p12.1, and 17p11.2. Loss was found in only one region of chromosome 22q11.23. Several genes located within the amplified region of Xp included GYG2, ARSD, ARSE, ARSH, UBE1, USP11, PCTK1, ARAF, SYN1, TIMP1, XK, PDK3, PCYT1B, PHEX, ARX, RPS6KA3, TMSB4X, TMEM27, BMX, and KAL1. Conclusions : This was the first application report of genomewide copy number changes by BAC array-CGH in ASPSs. Our study showed unique genomic regions and new candidate genes that suggest a neural origin and are associated with tumor pathogenesis in ASPSs.
참고문헌 (26)
- Christopherson WM, "Alveolar soft-part sarcomas;structurally characteristic tumors of uncertain histogenesis", Cancer, 5, pp.100~111 (1952)
- Ordonez NG, "Alveolar soft part sarcoma: a review and update", Adv Anat Pathol, 6, pp.125~139 (1999)
- Nakano H, "RT-PCR suggests human skeletal muscle origin of alveolar soft-part sarcoma", Oncology, 58, pp.319~323 (2000)
- Folpe AL, "Alveolar soft-part sarcoma: a review and update", J Clin Pathol, 59, pp.1127~1132 (2006)
- Ladanyi M, "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25", Oncogene, 20, pp.48~57 (2001)
- Kiuru-Kuhlefelt S, "DNA copy number changes in alveolar soft part sarcoma:A comparative genomic hybridization study", Mod Pathol, 11, pp.227~231 (1998)
- Sanjuan X, "Alveolar soft part sarcoma:The role of prognostic markers", Ann Diagn Pathol, 4, pp.135~142 (2000)
- Saito T, "Possible association between tumor-suppressor gene mutations and hMSH2", hMLH1 inactivation in alveolar soft part sarcoma, 2003, pp.34, 841~849
- Lazar AJ, "Angiogenesis-promoting gene patterns in alveolar soft part sarcoma", Clin Cancer Res, 13, pp.7314~7321 (2007)
- Rozeman LB, "Array-comparative genomic hybridization of central chondrosarcoma: identification of ribosomal protein S6 and cyclin-dependent kinase 4 as candidate target genes for genomic aberrations", Cancer, 107, pp.380~388 (2006)
- Meza-Zepeda LA, "Array comparative genomic hybridization reveals distinct DNA copy number differences between gastrointestinal stromal tumors and leiomyosarcomas", Cancer Res, 66, pp.8984~8993 (2006)
- Sreekantaiah C, "Multiple and complex abnormalities in a case of alveolar soft-part sarcoma", Cancer Genet Cytogenet, 55, pp.167~171 (1991)
- Cullinane C, "Molecular genetic, cytogenetic, and immunohistochemical characterization of alveolar soft-part sarcoma. Implications for cell of origin", Cancer, 70, pp.2444~2450 (1992)
- Sciot R, "Alveolar soft-part sarcoma: evidence for its myogenic origin and for the involvement of 17q25", Histopathology, 23, pp.439~444 (1993)
- Joyama S, "Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: a case report and review of the literature", Cancer, 86, pp.1246~1250 (1999)
- van Echten J, "An important role for chromosome 17, band q25, in the histogenesis of alveolar soft part sarcoma", Cancer Genet Cytogenet, 82, pp.57~61 (1995)
- Knight JC, "Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization", Hum Mol Genet, 1, pp.633~637 (1992)
- Schoenfeld AR, "BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage", Mol Cell Biol, 24, pp.7444~7455 (2004)
- Lee JW, "Mutational analysis of the ARAF gene in human cancers", APMIS, 113, pp.54~57 (2005)
- Kebebew E, "Diagnostic and prognostic value of angiogenesis-modulating genes in malignant thyroid neoplasms", Surgery, 138, pp.1102~1109 (2005)
- Kettunen E, "Differentially expressed genes in nonsmall cell lung cancer: expression profiling of cancerrelated genes in squamous cell lung cancer", Cancer Genet Cytogenet, 149, pp.98~106 (2004)
- Son BH, "Prognostic values of KAI1 and survivin expression in an infiltrating ductal carcinoma of the breast", Pathology, 37, pp.131~136 (2005)
- Leypoldt F, "Neuronal differentiation of cultured human NTERA-2cl.D1 cells leads to increased expression of synapsins", Neurosci Lett, 324, pp.37~40 (2002)
- Stromme P, "Brain cysts associated with mutation in the aristaless related homeobox gene, ARX", J Neurol Neurosurg Psychiatry, 74, pp.536~538 (2003)
- Cariboni A, "Kallmann’s syndrome, a neuronal migration defect", Cell Mol Life Sci, 63, pp.2512~2526 (2006)
- Syamala VS, "Influence of germline polymorphisms of GSTT1, GSTM1, and GSTP1 in familial versus sporadic breast cancer susceptibility and survival", Fam Cancer, 7, pp.213~220 (2008)