Review Article

Copy Number Alterations and Methylation in Ewing's Sarcoma

Table 1

Summary of copy number alternations (CNAs) in Ewing's Sarcoma (tumor, cell line, and xenograft) in published literature.

DeletionGainEwing's sample typeFrequency (%)TechnologyStudyClinical significance

1pESFT17/184 (9%)Karyotyping and CGHHattinger et al. [47]; Ozaki et al. [48]
1p36ESFT5/88 (6%)Karyotyping (G-Band)Roberts et al. [49]
1p36.32-p36.11ESFT2/9 (22%)SNP Microarray (Affy 100 K)Neale et al. [50]
1qESFT77/396 (19%)Karyotyping and CGHArmengol et al. [51]; Brisset et al. [52]; Hattinger et al. [47]; Ozaki et al. [48]; Roberts et al. [49]; Savola et al. [53]; Tarkkanen et al. [54](i) Adverse event free survival (ii) Adverse overall survival (iii) Age at diagnosis >15 years (iv) Metastatic (trend)
Cell line5/8 (63%)CGHShing et al. [55]
1q21-q22ESFT5/28 (18%)CGHTarkkanen et al. [54](i) Adverse overall survival (trend) (ii) Adverse 5-year distant disease-free survival (trend)

2ESFT38/262 (15%)Karyotyping and CGHBrisset et al. [52]; Hattinger et al. [47]; Roberts et al. [49], Savola et al. [53](i) Localized disease
2qESFT12/62 (19%)CGHOzaki et al. [48](i) Adverse overall survival

3pCell line3/8 (38%)CGHShing et al. [55]

4pESFT10/105 (10%)CGHBrisset et al. [52]; Ozaki et al. [48](i) Relapse

5ESFT28/231 (12%)Karyotyping and CGHBrisset et al. [52]; Hattinger et al. [47]; Roberts et al. [49]
5pESFT5/25 (20%)CGHFerreira et al. [56]

6p21.1~pterESFT3/28 (11%)CGHTarkkanen et al. [54](i) Adverse overall survival (ii) Adverse 5-year distant disease-free survival

7ESFT26/216 (12%)Karyotyping and CGHHattinger et al. [47]; Roberts et al. [49]; Tarkkanen et al. [54]
7p21.1-p11.2ESFT2/9 (22%)SNP Microarray (Affy 100 K)Neale et al. [50]
7q (partial)ESFT6/25 (25%)CGHFerreira et al. [56]
7qESFT5/28 (18%)CGHTarkkanen et al. [54]

8ESFT197/413 (48%)Karyotyping, CGH and FISHArmengol et al. [51]; Brisset et al. [52]; Ferreira et al. [56]; Hattinger et al. [47]; Maurici et al. [57]; Ozaki et al. [48]; Savola et al. [53]; Tarkkanen et al. [54]; Zielenska et al. [58](i) Local recurrences (trend) (ii) Relapse (trend) (iii) Adverse overall survival (trend) (iv) Adverse 5-year distant disease-free survival (trend)
Cell line8/8 (100%)CGHShing et al. [55]
8pESFT30/62 (48%)CGHOzaki et al. [48](i) Relapse
8qESFT32/62 (52%)CGHOzaki et al. [48]
8q11.21-q22.3ESFT6/9 (67%)SNP Microarray (Affy 100 K)Neale et al. [50]
8q24.11-q24.21ESFT7/9 (78%)SNP Microarray (Affy 100 K)Neale et al. [50]

9pESFT7/31 (23%)CGHSavola et al. [53]
9p21ESFT50/291 (17%)Karyotyping, CGH, FISH, Southern Blot, SNP Microarray (Affy 100 K), and MLPABrownhill et al. [59]; Huang et al. [60]; Kovar et al. [61]; Neale et al. [50]; Roberts et al. [49]; Savola et al. [62]; Wei et al. [63](i) Adverse event free survival (trend) (ii) Adverse overall survival(iii) Axial(iv) progressive disease (trend) (v) Poor chemoresponse
9p21Cell line24/43 (56%)CGH (Agilent 44 K and 244 K), Taqman qRT-PCR, FISH, Southern Blot and MLPABrownhill et al. [59]; Kovar et al. [61]; Savola et al. [62]
9p21.3Xenotransplant4/12 (33%)dPCR, FISHLópez-Guerrero et al. [64]

10ESFT12/87 (14%)CGHFerreira et al. [56]; Ozaki et al. [48]

11pESFT2/62 (3%)Ozaki et al. [48](i) Relapse
11qESFT2/62 (3%)Ozaki et al. [48](i) Relapse

12ESFT104/434 (24%)Karyotyping, CGH and FISHArmengol et al. [51]; Brisset et al [52]; Ferreira et al. [56]; Hattinger et al. [47]; Maurici et al. [57]; Roberts et al. [49]; Savola et al. [53]; Tarkkanen et al. [54]; Zielenska et al. [58](i) Adverse event free survival (ii) Adverse overall survival(iii) Relapse (trend)
12pESFT12/62 (19%)CGHOzaki et al. [48](i) Adverse overall survival
12qESFT Cell line11/62 (18%) 6/8 (75%)CGH CGHOzaki et al. [48]Shing et al. [55](i) Adverse overall survival
12q14.1-q15ESFT2/9 (22%)SNP Microarray (Affy 100 K)Neale et al. [50]

14ESFT11/143 (8%)Karyotyping and CGHBrisset et al. [52]; Hattinger et al. [47]
14q11.2ESFT2/9 (22%)SNP Microarray (Affy 100 K)Neale et al. [50]

15ESFT4/43 (9%)CGHBrisset et al. [52]

16pESFT2/28 (7%)CGHTarkkanen et al. [54]
16qESFT69/396 (17%)Karyotyping and CGHBrisset et al. [52]; Ferreira et al. [56]; Hattinger et al. [47]; Ozaki et al. [48]; Roberts et al. [49]; Savola et al. [53]; Tarkkanen et al. [54](i) Adverse overall survival(ii) Age at diagnosis >15 years(iii) Disseminated disease at diagnosis
16qCell line5/8 (63%)CGHShing et al. [55]
16q22.3ESFT5/9 (56%)SNP Microarray (Affy 100 K)Neale et al. [50]

17ESFT and Xenotransplant2/19 (11%)dPCR, FISHLópez-Guerrero et al. [64]
17pESFT Cell line9/62 (15%) 4/8 (50%)CGH CGHOzaki et al. [48] Shing et al. [55](i) Adverse overall survival
17p13ESFT8/88 (9%)Karyotyping (G-Band)Roberts et al. [49]
17q21.31-q25.3ESFT6/9 (67%)SNP Microarray (Affy 100 K)Neale et al. [50]

18ESFT6/68 (9%)CGHBrisset et al. [52]; Ferreira et al. [56]

19ESFT4/25 (16%)CGHFerreira et al. [56]
19pESFT7/62 (11%)CGHOzaki et al. [48]
19qESFT11/62 (18%)CGHOzaki et al. [48]

20ESFT35/248 (14%)Karyotyping and CGHBrisset et al. [52]; Ferreira et al. [56]; Hattinger et al. [47]; Roberts et al. [49](i) Adverse event free survival (ii) Adverse overall survival
20pESFT11/62 (18%)CGHOzaki et al. [48](i) Adverse overall survival
20qESFT11/62 (18%)CGHOzaki et al. [48](i) Adverse overall survival
20q11.23-q13.33ESFT2/9 (22%)SNP Microarray (Affy 100 K)Neale et al. [50]

21q22.3ESFT2/9 (22%)SNP Microarray (Affy 100 K)Neale et al. [50]
22q11.21ESFT2/9 (22%)SNP Microarray (Affy 100 K)Neale et al. [50]

YCell lines3/5 (60%)CGHShing et al. [55]

*Modified from Toomey et al. Oncogene 2010. ESFT: Ewing's Sarcoma Family of Tumors, CGH: comparative genomic hybridization.