Compilation of published comparative genomic hybridization studies

Cancer Genetics and Cytogenetics 135 (2002) 63–90

Compilation of published comparative genomic hybridization studies Stéphanie Struskia, Martine Doco-Fenzyb, Pascale Cornillet-Lefebvrea,* a

Laboratoire d’Hématologie, Hôpital Robert Debré—CHU Reims, 51092 Reims cedex, France b Laboratory of Cytogenetics, Maison Blanche Hospital, 51100 Reims, France Received 27 August 2001; received in revised form 5 October 2001; accepted 8 October 2001

Abstract

The power of comparative genomic hybridization (CGH) has been clearly proven since the first paper appeared in 1992 as a tool to characterize chromosomal imbalances in neoplasias. This review summarizes the chromosomal imbalances detected by CGH in solid tumors and in hemopathies. In May of 2001, we took a census of 430 articles providing information on 11,984 cases of human solid tumors or hematologic malignancies. Comparative generic hybridization has detected a number of recurrent regions of amplification or deletion that allows for identification of new chromosomal loci (oncogenes, tumor suppressor genes, or other genes) involved in the development, progression, and clonal evolution of tumors. When CGH data from different studies are combined, a pattern of nonrandom genetic aberrations appears. As expected, some of these gains and losses are common to different types of pathologies, while others are more tumor-specific. © 2002 Elsevier Science Inc. All rights reserved.

1. Comparative genomic hybridization (CGH) and solid tumors The CGH contributed to the chromosomal characterization of solid tumors often limited by the obtaining of tumor metaphases (low proliferative potential or selective proliferation of normal cells) and by the complexity of karyotype. Nevertheless, one of the obvious advantages of the CGH is the possibility to work with formalin-fixed, paraffin-embedded archived materials allowing retrospective screening of chromosomal alterations of tumor specimens. Described for the first time by Kallioniemi in 1992 [1], the number of studies concerning solid tumors is impressive as shown in Table 1 [2–431]. The majority of these studies described gains and losses associated with a precise type of tumor (Fig. 1). They have been compiled first by Knuutila [432,433], Zitzelsberger [434] or more recently on different web sites. Other studies associated a genetic profile with a tumor evolution (primitive tumor vs. malignant stage or metastatic stage) [13], with a histological type (carcinoma versus adenoma for example) [66], with a given population (as in Chinese, Japanese or American people) [106] or with the presence of an infection (hepatitis for example) [103].

* Corresponding author. Tel.: 33-3-26-78-77-89; fax: 33-3-26-7881-71. E-mail address: [email protected] (P. Cornillet-Lefebvre).

2. CGH and hematological malignancies Although hematological neoplasias were less studied than solid tumors, CGH contributed to the knowledge of chromosomal alterations in leukemias and lymphomas. Moreover, contrary to the previous cytogenetic data, CGH has proved that gene amplifications were common in lymphomas [381,389]. The indications of CGH in hemopathies are: normal karyotype (proliferation of normal cells to the detriment of tumor cells during the cell culture), failure of karyotype (low-proliferative potential as multiple myelomas), uninterpretable metaphases because of poor quality (i.e., ALL) and complex karyotypes (i.e., lymphomas).

3. Future prospects In analyzing of the results of CGH, several limitations must be taken into account. Comparative genomic hybridization is handicapped in identifying balanced chromosomal abnormalities such as translocations or inversions. Pericentromeric, telomeric and heterochromatic regions cannot be evaluated, and 1p32pter, 16p, 19 and 22 could lead to a false-positive interpretation. Chromosomal imbalances must be present in about 50% of cells to be detected. Thus, CGH requires that tumor specimens are relatively free of surrounding normal tissues. Finally, thresholds of detection are 2 Mb for amplification and 10–20 Mb for deletion [435]. The limitations of CGH for the genetic characterization

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64 S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Table 1 Review of the literature: chromosomal gains and losses detected by CGH in solid tumors and hemopathies Tumor type

Number of analyzed tumors

Gains

Losses

Reference

Solid tumors Respiratory tract Lung cancers

10 NSCLC, 10 cell lines

1q, 2p, 3q, 5p, 7pq, 8pq, 12p, 19q, 20p 1q, 3q, 5p, 7p, 8q, 12p 1q, 5p, 6p, 7p, 8pq, 12pq, 21q 1pq, 2p, 5p, 8q, Xq 3q, 5p, 8q, Xq

3p, 5q, 8p, 9p, 13q, 15q, 17p, 18q

[2]

1q, 3q, 7p, 8q, 9q, 17q, 20q 1q, 2p, 3q, 5p, 6pq, 7pq, 8q, 11q, 15q, 19q, 20q 1pq, 2p, 3q, 5p, 6p, 7p, 8q, 12, 15q, 17q,19pq, 20pq, 22q, X 1pq, 3q, 5p, 6p, 8q, 12, 17q, 18q, 19pq, 20pq, X 1q, 3q, 5p, 8q, 11q, 12p, 16p, 17q, 19q

25 adenocarcinomas, 19 carcinomas 30 primary carcinomas 18 SCLC 10 SCLC (7 primary tumors, 3 metastases) 9 NSCLC, 2 cell lines 8 primary NSCLC 11 NSCLC

11 neuroendocrine carcinomas 25 adenocarcinomas, 25 carcinomas 22 SCLC 150 carcinomas: SCLC NSCLC carcinomas adenocarcinomas primary versus metastatic 50 (with or without metastases) associated with metastases 13 SCLC 10 primary, 16 metastatic 22 primary sarcomas and their metastases 17 typical carcinoid tumors 6 atypical carcinoid tumors 3 SCLC 3 large-cell neuroendocrine carcinoma Malignant mesotheliomas

Head and neck carcinomas

23 primary 10 23 and 4 cell lines

3p, 4, 5q, 8p, 10, 13q

[7]

5q, 6q, 9, 13q, 18q, 19p

[8]

2q, 3p, 4pq, 5q, 8p, 9p, 10p, 11pq, 13q, 17p, 21q

[9]

2pq, 3p, 4pq, 5q, 8p, 9p, 10p, 11pq, 13q, 16q, 17p 1p, 2q, 3pq, 4q, 5q, 6q, 8p, 9pq, 10p, 13q, 18q, 19, 21q 3p, 4q, 5q, 10q, 13q, 15q, 16q, 17p

[10] [11]

[17]

5p, 17p, 20 5p, 17p, 20

11q 10q, 11q, 13q 3p, 4q, 5q, 13q, 15q 3p, 4q, 5q, 10q, 13q, 15q 1p, 6q, 9p, 13q, 14q, 15q, 22q 4q, 6q, 9p, 13, 14q, 22q 1p, 4q, 6q, 9p, 13q, 14q

[18]

1p, 8p, 14q, 22q 9p 3p, 22q

[20] [21] [22]

3p, 4pq, 5q, 6q, 8p, 9p, 11pq, 13q, 18q 1p, 3p, 4, 5q, 6q, 8p, 9p 11q, 13q, 17p, 18q, 21q

[23]

1q 5p, 7pq, 8p, 11q, 12p, 15q 5p, 6p, 8q, 15q, 17q, 20

19 29 metastatic 50 primary

[5] [6]

1q, 3q, 5p, 8q, 11q, 12p, 17q, 19, 20q, 22q 1q, 8q, 9q, 14q, 15q 3q, 5p, 8q, 17q 3q, 5p 1q

3q 1q

27 34

30 primary

3p, 10q, 13q, 16p, 17p, 22q 3p, 4p, 5q, 8p, 13q, 17p

3p, 4q, 5q, 10q, 13q, 17p 1p, 3p, 4q, 5q, 6q, 8p, 9p, 13q, 18q, 21q 2q 9q 10q 1p, 2q, 3p, 4pq, 5q, 6q, 8p, 9p, 10q, 11p, 13q, 18q, 21q 3p, 4p, 6q, 8p, 10q, 21q 3p, 5q, 10q, 13q, 17p 3p, 4q, 5q, 10q, 13q, 17p 9p, 10p, 11q, 13q

5p

14 primary

[3] [4]

[12] 3q, 5p 5p, 11q

24

11 (including 6 cell lines) 14 19

6q, 8p, 17p, 18q, X

1q, 2q, 3q, 6pq, 7p, 8q, 18q 1p, 3q, 8q, 9q, 11q, 16p, 17q, 19pq, 20q, 22 1p, 3q, 8q, 11q, 17q, 19pq, 22q 5p, 6p, 7p 19q, 20q 1p, 3q, 8q, 11q, 16p, 17q, 19, 20q, 22q 1p, 3q, 5p, 8q, 9q, 11q, 16p, 17q, 19p, 20q, 22q 2q, 3q, 4q, 7q, 8q, 13q 1p, 5p, 7p, 8q, 9q, 10q, 11q, 12pq, 14q, 15q, 16pq, 17q,19, 20q, 22q

[13]

[14] [15] [16]

[19] [4]

[24] [25]

7q, 10q, 11pq, 15q, 20p 1p, 3p, 4, 5q, 6q, 8p, 9p, 11, 13q, 18q, 21q 3p, 4pq, 5q, 6q, 9p, 11q, 13q, 18q 1p, 3p, 5q, 11p, 16p, 19, 22, Y 3p, 5q, 9p

[26]

[27] [28] [29]

(continued)

Table 1 (continued) Tumor type

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

18 6 4

3q, 8q, 12p 1q, 3q, 5p, 7p, 8q, 9pq 3q, 5pq, 7pq, 8q, 11pq, 13q, 20p 3q, 5p 3q, 7p, 8q, 11q, 13q, 14q, 15q, 20q 3q, 8q, 11pq, 13q 3q, 5p, 8q, 20pq 3q, 5p, 8q 3q, 8q, 11q 1q, 3q, 5p, 7, 8q, 10p, 11q, 12p, 13q, 17, 20p 8q, 16p 3q, 8q, 11q, 14q, 15q, 17pq, 20pq, 22q 1p, 2p, 3q, 5p, 7p, 8q, 10q, 15q, 19q, 20pq, 21q 1q, 3q, 5p, 10q, 11q, 15q, 17q, 20p, 21q, 22q 1pq, 2q, 3q, 5p, 6q, 7p, 8q, 9q, 10q, 11q, 12pq, 14q, 15q, 16pq, 17, 19, 20q 1q, 11q, 12pq, 17q,

3p 3p, Xp 18q

[30] [31] [32]

3p, 5q, 7q, 8p, 18q

[33] [34]

77 carcinomas, 4 cell lines 17 cell lines 18 primary carcinomas 14 cell lines 11 carcinomas 21 13 primary 12 premalignant lesions 14 carcinomas 10 10 metastatic 20 carcinomas, 4 cell lines

Nasopharyngeal carcinomas

5q, 9p, 14q

[41]

[40]

3p, 4q, 5q, 18q, 19p

3p, 9p, 11q, 13q, 14q

[43]

3p, 11q, 14q, 16q

[44]

3p, 9p, 11q, 14q

[45]

57

1q, 2q, 3q, 5q, 6q, 7q, 8q, 12pq, 18q 1q, 2q, 3q, 6pq, 7q, 8q, 11q, 12, 15q, 17q, 20q 1q, 3q, 4pq, 8p, 12q, 18q

1p, 3p, 11q, 14q, 16pq, 19p

20 primary

1q, 8, 12, 19, 20

2

2p, 3q, 4q, 5p, 6q, 7q, 8q, 12pq 3q, 8q, 9q

1p, 3p, 9pq, 11q, 13q, 14q, 16q 19q, 20q, 22q

[46] [47]

51 (25 primary, 26 recurrent)

38 primary 29 10 carcinomas 15 primary esophageal and gastroesophageal adenocarcinomas 17 carcinomas 29 primary, 12 cell lines 3 cell lines grow without fetal calf serum 3 cell lines grow with fetal calf serum 36 carcinomas 5 30 adenocarcinomas

Gastric cancers

[35] [36] [37] [38] [39]

[42]

10

Laryngeal carcinomas Digestive tract Esophageal cancers

1p, 9p, 10q, 18q, 19q 4q, 18q 17p, 18q, 19pq 3p, 9p, 18q 1p, 2q, 3p, 4pq, 5q, 7q, 11pq, 13q, 17p, 19pq, 22 3p, 4q, 5q, 8p, 9p, 13q 2q, 3p, 4q, 5q, 9p, 13q

3p, 5q, 6q

30

Pharyngeal carcinomas

65

19 dysplasias (high and low grade) 6 intestinal metaplasias 4 cell lines 43 primary 25 cell lines

1q, 2q, 3q, 5p, 6, 7pq, 8q, 13q, Xq 1q, 3q, 7pq, 8q, 11q, 20q 7p, 8pq, 17q, 18p, 20q 3q, 5p, 8q, 9q, 11q, 12q, 16p, 17, 19, 20q, 22 3q, 5p, 8q, 11q, 14q, 20q, Xq 3q, 5p, 7p, 8q, 11q, 20q 3q, 5p, 7p, 8q, 11pq, 17p, 20q, Xq 3q, 5p, 7p, 8q, 11pq, 12p, 17p, 20pq, Xq 2pq, 3q, 5p, 7q, 8q, 11q, 12p, 20pq 5p, 7q, 8q, 9q, 10p, 12p, 13q, 17q, 20p, X 2p, 6p, 7pq, 8pq, 10q, 15q, 17q, 20q 2p, 8q, 10q, 15q, 20q 6p, 8q, 10q 1, 2, 3, 5p, 8, 16, 17, 20 3p, 8q, 12q, 13q, 20pq 7pq, 8q, 11pq, 13q, 20pq, Xpq

[48]

3p, 4, 18q

[49]

1p, 4p, 8p, 18q, 19pq, 22q, Xp 3p, 4pq, 5q, 9p, 11pq, 13q, 18q, 21q, Y 4pq, 5q, 18q

[50]

1p, 2q, 3p, 4, 5q, 6q, 9p, 11q,12q, 13q, 14q, 18q, Xq 9p

[53]

3p, 4, 9p, 18q 4q, 9p, 18q

[51] [52]

[54]

[55]

3p, 4q, 5q, 9p, 18q 3p, 4q, 5q, 9p, 11q, 13q, 18q 3p, 4, 7q, 9p, 15q, 16q, 18q, Y 4q, 5q, 7q, 9p, 14q, 18q, Y 5q, 9p, 10q, 18q, Y 9p, 13q, Y 1p, Y 1p, 16, 17, 19 4q, 9p, 18q, 22q

[56] [57] [58]

[59] [60] [61] (continued)

66 Table 1 (continued) Tumor type

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

62 primary carcinomas 15 adenomas

3q, 8q, 13q, 20q 3q, 8q, 13q, 20p

[62] [63]

15 carcinomas

2q, 3q, 5p, 6q, 7pq, 8pq, 13q, 20p 2p, 3q, 6q, 7pq, 9pq, 13q, 15q 8q, 17q, 20q 7, 8, 13, 17q, 20q 8q, 17q, 20q 2q, 7pq, 8pq, 13q, 17q, 18q, 20pq 1q, 8q, 17pq, 20q 1q, 2p, 7q, 8p, 10q, 11q, 16p, 17q, 20q 1p, 6p, 7q, 8pq, 11q, 12p, 16p, 17q, 19q, 20pq, Xpq 8q, 13q

1p, 17p, 19p 1p, 11q, 12q, 15, 16p, 17p, 20q 1p, 2q, 4pq, 9pq, 11q, 12q 14, 15, 16p, 17pq, 18q 1p, 6p, 17p, Y 4q, 18q 5q 4q, 18q 17p

[65] [66] [67]

4q 4q, 5q, 9p, 21q

[68] [69]

1p, 3p, 5q, 6q, 9p, 16q, 17p, 18q, 19 2q, 9p, 12q, 14q, 15q, 16pq, 17pq, 19pq, 22q 1p, 3p, 4q, 5q, 16q, 19p

[70]

14q 9q, 13q, 14q, 22q 14, 22q 1p, 14q, 15, 22 3p, 4pq, 5q, 9p, 14q, 16q, 17p, 18q, 21q, Y

[73] [74] [21] [75] [76]

6q, 7q, 8p, 10p, 12pq, 17p, 18q, 22q 4q, 5q, 6q, 9p, 18q 4, 8p, 18, 22

[77]

8p, 17p, 18q 5q, 8p, 17p, 18q 1p, 3p, 4, 5q, 6q, 8p, 9p, 10, 15q, 17p, 18q 1p, 8p, 18q 1p, 8p, 14, 15, 18pq 4q, 8p, 18q 18q, 22q 17p, 18pq, 22q 17p, 18pq, 22q

[80]

33 primary 35 (22 intestinal type, 13 diffuse type) 16 adenomas 22 carcinomas 37 carcinomas 13 carcinomas 23 adenocarcinomas 58 primary 46 53 Gastrointestinal tumors

Gastroesophageal junction

32 14 28 13 benign 28 adenocarcinomas

Biliary tract cancers

14 carcinomas

Colorectal cancers

18 12 primary and 14 metastatic adenocarcinomas 42 32 ulcerative colitis 45 carcinomas 11 carcinomas 27 metastatic, 6 primary 9 adenomas, 14 carcinomas 9 primary 19 primary 16 primary with liver metastasis 10 primary 10 metastatic

Ulcerative colitis Anal carcinomas Hepatocellular carcinomas

14 low-grade adenomas 12 low-grade adenomas 16 colon carcinomas 12 carcinomas 5 14 23 52 primary 31 50 primary 3 41 40 50 infected with hepatitis B 34

6q, 7p, 8q, 11q, 13q, 17q, 20q 3q, 5p, 8q 4pq, 18p, 19p, 22q 5p, 8q, 17q, 19q 5q 1q, 3q, 5p, 6p, 7p, 8q, 12q, 13q, 15q, 17q, 18p,19q, 20pq, Xpq 2q, 6p, 7p, 8q, 11q, 12p, 13q, 17q, 19q, 20q, Xp 3q, 5p, 7p, 8q, 12p, 17q 6p, 7p, 8q, 13q, 16q, 17q, 20q 8q, 13q, 20q 8q, 13q, 20q 5p, 6p, 7, 8q, 13q, 17q, 19, 20q, X 8q, 13q, 20q 7p, 8q, 13q, 20q 7p, 8q, 13q, 20q 11p, 12q, 16p, 20pq 8q, 13q, 20pq 6q, 7q, 8q, 9p, 13q, 20pq 7q, 19q, 20q 7q, 8q, 13q, 19q, 20q 7 7, 20 1, 7p, 8q, 13, 20 7, 13, 20q 8q, 19p 3q, 17, 19 1q, 5p, 7q, 8q, 11q, Xq 1q, 6p, 8q, 11q, 17q, 20q 1q, 8q, 20q 1q, 8q 1q, 8q, 11q 1q, 6p, 8q, 17q 1q, 6p, 8q, 11q, 12p, 14q, 17q, 19q 1q, 6p, 8q, 17q

[64]

[71] [72]

[78] [79]

[81] [82] [83] [84] [85] [86] [87]

4p, 8p, 9q, 11q, 15q, 17pq, 18q, 21q, 22q [88] 4, 8p, 18q 9p, 17, 18 5q, 18q 5q, 18q 4p, 11q, 13q, 18q 4q, 8p, 16pq, 17p 4q, 8p, 9p, 13q, 16pq 1p, 4q, 8p, 16q, 17p, 19p, 22q 4q, 8p, 9p, 16p, 17p 4q, 8p, 10q, 13q, 16q, 17p 4q, 8p, 13q, 16q, 17p 1p, 4q, 6q, 8p, 13q, 16q, 17p 1p, 6q, 8p, 13q, 14q

[89] [90] [91] [92] [93] [94] [95] [96] [97] [98] [99] [100] (continued)

Table 1 (continued) Tumor type

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

10 (primary and their matched metastatic lesions) 35 infected with hepatitis C

1q, 5p

4q, 8p, 17p, 19p

[101]

1q, 6p, 7q, 8q, 11q, 14q, 17q 1q, 6p, 8q, 11q, 17q

1p, 4q, 5q, 6q, 8p, 13q, 16q, 17p 1p, 4q, 6q, 8p, 9p, 11q, 12q, 13q 4q, 6q, 8p, 10q, 16p, 17p

[102]

4q, 8p, 13q, 16q 4q, 8p, 10q, 13q, 16q, 17p 4q, 8p, 13q 1p, 4q, 7q, 8p, 9, 13q, 16q, 17p, 18q 4q, 9q, 13q, 17p 8p 1p, 4pq, 8p, 9pq, 13q, 14q, 16pq, 17p, 18q 9p, 13q 4, 11

[105] [97] [106]

41 infected with hepatitis B or C 6 67 41 30: hepatitis B, Hong Kong 20: hepatitis B, Shangai 16: hepatitis C, Japan 17: negative, USA 26 Hepatoblastomas

Endocrine Glands Adrenocortical tumors

18 10 16 25, 8 adenomas, 14 primary carcinomas, 1 metastasis 23 pheochromocytomas and 11 abdominal paragangliomas 9

11

Pancreatic tumors

22 12 carcinomas 23 adenomas 6 hyperplasias 12 cell lines, 6 adenocarcinomas 11 cell lines 13 biopsies 33 adenocarcinomas 27 44

Thyroid tumors

Parathyroid tumors

67

25 6 pancreatic acinar cell carcinomas 33 tumors and 2 cell lines 8 follicular adenomas, 13 follicular carcinomas 24 carcinomas 29 follicular adenomas 13 follicular carcinomas 20 follicular carcinomas 13 anaplastic 8 anaplastic cell lines 3 well-differentiated cell lines 21 papillary 7 adenomas, 4 carcinomas 9 anaplastic carcinomas 10 adenomas, 10 carcinomas

1q, 4p, 5q, 6p, 7pq, 8q, 17q 1q, 8q, 17q, 20q 1q, 8q, 11q 1q, 7q, 8q, 20q 1q, 2q, 3q, 5p, 6p, 7pq, 8q, 17q, 19q, 20q, Xq 1q, 7q, 11q, 17q, 19q 1q, 6p, 7p, 8q, 20q 1q, 5p, 6q, 8q,12q, 17q, 20q, Xq 1q, 2q, 20q 1q, 2, 17, 20 1, 2, 7, 8, 17

[103] [104]

[107] [108] [109] [110]

1pq, 3pq, 5, 7p, 8, 9q, 11q, 12q, 13q, 14q, 16p, 17q, 19pq, 20, 22q 11q, 16p, 17q, 19pq

9p

[111]

1p, 2q, 3pq, 4q, 11pq

[112]

1q, 5pq, 6pq, 8pq, 9q, 10p, 11q, 12q, 13q, 14q, 15q, 16, 18q, 19, 20q 1p, 9q, 11q, 12q, 17q, 19, 20q, 22q 4, 5 5q, 9q, 12q, 20q 9q, 17pq 17 20q

2q, 3, 4, 9p, 11, 13q, 18, 20p, Xq

[113]

2, 3, 4, 18q, X

[114]

2, 11q, 17p 1p, 2q, 3pq, 6q, 9p, 11q

[115] [116]

3p, 4q, 6q, 8p, 9p, 18q, 21q, Y 3p, 9p, 13q, 15q, 18q, 21q

[117]

3q, 6p, 7q, 8q, 11q, 12p, 14q, 17q, 19q, 20pq 5pq, 7p, 8q, 11pq, 12p, 18q 3q, 5p, 8q, 12p, 19q, 20q 1p, 6q, 7q, 12p, 16p, 17q, 20q, 22q 5q, 7pq, 9q, 12q, 14q, 17pq, 20q, Xp 7q, 14, 19, 20q 1q, 12p, Xq 1pq, 2p, 5q, 9q, 14q, 19q 16p, 17 7pq, 17 11q, 19pq, 22q 5, 7, 9, 12, 14, 17, 18, X 5, 7, 12, 14, X 1q, 17q 7p, 8q, 9q 20q 20q 4, 5q, 6q, 9q, 13q 5, 7, 12, 17, 19, 20 3q, 5p, 7pq, 8p, 9q, 11pq, 17q, 18p, 20q, 21, Xpq 5

[118]

6q, 17p, 18pq 8p, 10q, 13q, 18q 9p

[119] [120]

3pq, 6pq, 10q, 11pq, Xq, Y

[121]

11pq 16pq

[122] [123] [124] [125]

6q 9q 3q, 13q 1p, 22 1p, 13q, 22 16p, 18q 18q 1p, 9q, 17, 19, 22 2 1p, 2q, 3p, 4q, 8q, 9p, Y 11, 17, 22 1p, 17

[126] [127] [128] [129] [130] [131] [132] [133] (continued)

Table 1 68 (continued) Tumor type

Pituitary tumors

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

26 sporadic adenomas 10 cases previously given irradiation 8 familial cases 29 carcinomas 53 adenomas 23

7, 19p

1p, 11, 15q 11q

[134]

1p, 4q, 6q, 9p, 13q 1pq, 6q, 9p, 11pq, 13q, 15q 18

[135] [136] [137]

13q 13q, 18 1p, 2, 10, 11, 13, 18, 21

[138] [139] [140]

10, 11, 13 9q, 11q, 13q, 18q 9q, 16q, 22

[141] [142] [143]

3p, 4q, 6q, 8p, 9p

[144] [145]

3p 3p, 8p, 14q, Y

[146] [147]

Y 3p 1p, 4q, 6q, 9p, 13q, Xpq, Y 3p, 9, 10q 14 1, 3p, 6, 9, 10, 12, 14, 18 3p, 9p, 13q 1, 2, 3p, 6, 8p, 9, 10, 13q, 17 1, 14 2q, 3p, 4q, 6q, 9p

[148]

12 adenomas 10 adenomas 40 primary, 13 recurrent adenomas

Pineal tumors Urinary tract Renal cancers

Wilms tumors

Bladder cancers

75 15 6 4 clear cell sarcomas 32 clear cell renal cell carcinoma metastases 18 25 primary and metastatic renal clear cell carcinomas 4 papillary lesions 2 carcinomas 25 papillary carcinomas 18 (primary  secondary lesions) 15 43 metastatic 41 clear cell carcinomas 15 13 oncocytomas 9 clear cell carcinomas 2 papillary carcinomas 19 chromophobe carcinomas 8 80 67 including 46 relapse 46 including 6 nephroblastomatosis 69 carcinomas: schistosoma-associated, nonschistosoma-associated, transitional cell carcinomas 22 primary, 24 metastases 26 16

6 invasive 28 28 invasive 54 carcinomas 56 carcinomas 46 67 carcinomas 32 10 SCC

19p 1q, 9q, 16p, 19p, Xq 16p, 19p 1q, 4q, 5q, 8p, 9p, 13q, 16q, 17, 18pq, X 5, 9, 17pq, 19, 22q 1q, 3, 5, 6p, 7, 8, 9, 12, 13, 14, X 7, 9, 12, 19, X 8q, 12p 4q, 5pq, 12q 1q, 11q 11q, 17q, Xq 3, 7, 8, 16, 17 1q, 5q, 7p, 8q, 16p, 17q, 19, 22q 7, 16, 17 7pq, 12q, 16q, 17pq, 20q 7, 17 5 5, 17 5q, 7 5q, 7, 16p

5q, 9q, 17 7, 17

1q, 3pq, 7q, 8, 12 1q, 12, 8 1q, 8, 10q, 12q, 18 1q, 5p, 8q, 11q, 20q 1q, 5p, 8q, 20q 1q, 8q, 11q, 17q, 20q 6p, 8q, 10q, 17q 1p, 1q, 3q, 8q, 13q 1pq, 3pq, 4q, 5p, 6pq, 7p, 8q, 11q, 12q, 13q, 17q, 18q, 20pq 8q, 20q 1q 1q, 3pq, 5p, 6p, 8pq, 10p, 11q, 12q, 13q, 17, Xpq 1q, 3p, 5p, 6p, 8q, 17q, 20q 1q, 3, 5p, 6p, 8q, 10p, 12q, 17q, 20q 1q, 5q, 7q, 8q, 10pq, 12q, 17 1q, 2p, 3q, 5p, 6p, 8q, 12, 17q 1q, 2q, 12q, 17q, 20p 1p, 3q, 5p, 6p, 8q, 12q, 20q

1, 2, 6, 10, 13, 17, 21 3q, 4q, 9p, 20p 1p, 4pq, 5p, 7p, 15q, 16q, 18q, 21q, 22q 1p, 11p, 16q, 22q, X 1p, 4q, 7p, 9p, 11p 3p, 5q, 9p 3p, 9p 4q, 6q, 9p 8p, 10q, Y 3p, 8p, 9, 11pq, 12q, 17p 2q, 4q, 5q, 8p, 9pq, 11p

[149] [150] [151] [152] [153] [154] [155] [156] [157] [158] [159] [160] [161]

[162] [163] [164]

2, 17p 9pq, Y 2q, 8p, 11pq, Y

[165] [166]

2q, 4p, 5q, 6q, 8p, 9pq, 10q, 11pq, 13q, 18q, Y 2q, 8p, 9, 10q, 11pq, Y

[167]

2q, 4q, 5q, 8p, 9pq, 10q, 11pq, 17p, 18q 2q, 4q, 5q, 8p, 9pq, 10q, 11pq 5q, 8p, 9pq, 17p 4q, 5q, 10q, 13q

[169]

[168]

[170] [171] [172] (continued)

Table 1 (continued) Tumor type

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

3 sarcomatoid carcinomas

1pq, 2pq, 3pq, 4pq, 5pq, 6pq, 7pq, 8q, 9q, 10q, 11pq, 12q, 13, 14, 18q, Xpq 3p, 5p, 10p, 12q, 17q, 18p, 22q 1q, 17q, 20q

16p, 19p, 22

[48]

5q, 9, 11

[173]

2q, 11p, 9pq, 18q, Y

[174]

1p, 4, 14, 15, 18, 19q 9p, 10 9q, 10, X

[175] [176] [177] [178]

14 carcinomas including 7 invasive 113 Nervous system Cerebral tumors

23 oligodendrogliomas 5 gliosarcomas 7 astroblastomas 3 astrocytomas 16 glioblastomas 11 glioblastomas, 8 anaplastic astrocytomas 20 glioblastomas radiation-resistant 10 glioblastomas radiation-sensitive 17 low-grade oligodendrogliomas 12 high-grade oligodendrogliomas 39 gliomas

10 glioblastomas 20 primary gliomas, 10 recurrent gliomas 9 cell lines 15 oligodendrogliomas 5 glioblastomas 16 astrocytomas 97 glioblastomas (72 primary, 25 recurrent) 9 malignant gliomas 14 glioblastomas, 19 astrocytomas 11 gliomas (7 families) 21 gliomas (17 families) 42 metastases 23 ependymomas 7 astrocytomas with good prognosis (grade II) 4 astrocytomas with poor prognosis (grade II) 13 grade III–IV astrocytomas 9 grade III–IV cell lines 26 ependymomas 24 glioblastomas 2 astrocytomas, 7 glioblastomas

Medulloblastomas

69

18 primary astrocytomas 10 grade II astrocytomas 5 grade III astrocytomas and 5 glioblastomas 5 astrocytic gliomas 20 glioblastomas 23 primary 10 37 6 27 primary 53 primary

7 19, 20q 7q 7, 12q 7pq, 8q, 17q 7 (in 70%), 19 7 (in 30%), 19 7 1q, 3q, 4q, 5p, 7, 8q, 10p, 11, 12q, 19, X 4q, 5q, 7, 12q, 13q 7 7 3q, 5p, 7, 8q, Xp 7pq, 11pq, 17p, 19pq, Xp 1, 3, 6, 7, 8, 21 7q 1q, 7p 7p 1q, 7pq, 8q, 11q, 20q, Xq 3q, 5q, 7pq, 12pq, 17q 1p, 7, 19, 20q 1q, 7p, 8q, 17q, 20q 1q, 9 1p, 7q, X 1p, 8q, 11q, 12q, 15q, 19, X 1p, 3q, 7q, 8q, 9q, 10p, 11q, 17q, 19, 20q, X 7, 17, 19, 20 1q, 9q, 17, 20q, 22q 7, 12q, 19 1q, 4q, 7pq, 12p, 19, 20, 22q 7q, 8q, 12p 8q, 12p, 19p 1q, 6p,12p, 13q, 20q

7, 11q, 12q, 19, 20 1q, 7, 17q 1, 2p, 3, 7, 8q, 9p, 17 3p, 17q 2pq, 7pq, 17q 5p, 7, 11q, 17q 17q

9p, 10, 13 4q, 9p, 10pq, 13q, 22q 9p, 10, 13q 10, 13q 1p, 19q 1p, 10, 19q 1p, 4q, 6q, 8, 9p, 10, 11p, 12q, 13, 14, 15, 16, 17p, 19q, 22 22 9p, 10, 13, Y 6, 9p, 10, 13, 14, Y 4, 10, 13, 14, Y 1p, 9p, 10pq, 14q, 16p, 19q 5p, 10, 13, 15, 16 1p, 19q, 22q 10q

9p, 10pq 9p, 10pq, 13q 4q, 9q, 10, 13q, 15, 16p, 18, 21, 22 4q, 6q, 9p, 10 4q, 5q, 9p, 10q, 17p, 18q 6q, 22q, X

[179] [180] [181] [182]

[183] [184]

[185] [186] [187] [188] [189] [190] [191] [192] [193] [194] [195]

1, 2q, 3, 4q, 5p, 9p, 10q, 12q, 13q, 14q, 18q 9p, 10q, 13q 1q, 2q, 3, 4, 5q, 6q, 9p, 10, 11q, 12q, 13q,14q, 18q, Xq 2q, 4q, 6q, 10, 13q 9p, 10, 13 9p, 10, 17p, 22q 1p, 4q, X 5p, Xp 4q, 9p, 10q, 11p, 13q 1, 4, 9, 19, X 6q, 9p, 10, 13, 22q 3, 8, 9, 10q, 11, 17p, X 4, 12, 19 9q, 17p, 22 8p, 10q, 11, 16q, 17p 14q, 19q

[196] [197] [198] [199] [200]

[201] [202] [203] [204] [205] [206] [207] (continued)

Table 1 70 (continued) Tumor type Neuroblastomas

Meningiomas

Malignant peripheral Nerve sheath tumors

Neuroendocrine tumors

Eyes Uveal melanomas

Retinoblastomas Skin Cutaneous melanomas

Merkel cell carcinomas

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

18 primary 6 familial tumors 24 primary and metastatic 35 17 3 with progression 8 / long-term survivors 14 / short-term survivors 16 with stage IV 20 primary 29 83 36 11 primary and 7 cell lines 27 25 10 13 typical 3 anaplastic, 4 atypical 19 benign, 21 atypical 19 anaplastic

4p, 5pq, 7q, 8q, 9p, 17q

17p 1p, 3p, 10pq, 11q, 16q, 20q 3p, 11q 1p, 9q, 11q, 14q, 15q 3, 4, 11, 14 1p

[208] [209] [210] [211] [212]

2p, 7, 12q, 13q, 17 2, 6, 7, 12, 13, 17, 18 8q, 17q 1, 7, 17, 19 12q, 17q 1q, 2p, 17q 2p, 17 2p, 4q, 6, 7, 17, 18 1q, 2p, 17q 17pq 2p, 12q, 17q 2, 7, 17

20q

10 10 benign 19 malignant 23 20 20 12 foregut 14 midgut

1q, 9q, 12q, 15q, 17q, 20q 1q, 2pq, 7q, 8, 9q, 11q, 12q, 13q, 15q, 16pq, 17pq, 20pq, 21q 17q no imbalances 5p, 7p, 8q, 12q, 17q 5p, 6p, 7pq, 8q, 13q, 17q 5, 7, 14, 17q, 19q 5, 7, 14 4, 5, 19, 20q 4, 5, 17q, 19

35 (primary and metastases) 7 10 1 and 2 cell lines 11 30 26 24 32 primary 17 Spitz nevi 3 3 34

[213] 1p, 9p, 11q, 15q, 18q 1p, 11q 1p 1p, 11, 14, X 1p, 3p, 4p, 9p, 11q, 14q 1p, 3p, 4p, 9p, 11q, 14q 1p 11 1p, 3p 1p, 22q 22 1p, 2p, 6q, 10, 14q, 22 22q 1p, 6q, 10, 14q, 18q, 22q 1p, 4pq, 6pq, 9p, 10, 11p, 14q, 18pq, 22q, X 13q

[214] [215] [216] [217] [218] [219] [220] [221] [222] [223] [224]

[225] [226]

1p, 9p, 13q 14q 1p, 9p, 11q, 16p, 17p,18p 1p, 9p, 11q, 16p, 17p 1p, 2q, 3p, 4q, 6q, 17p 9p, 18

[227] [228] [229] [230]

1q, 6p, 8q, 16p 6p, 8q 6p, 7q, 8q, 9p, 13q 6p, 7, 8q, 17q 6p, 8q 6p, 8pq 1q, 2p, 6p, 17q, 19 1q, 2p, 6p

1p, 3, 6q, 8p, 13q, 18 3, 6q 3 6q, 16q 3, 6q, 9p 3, 6q, 8p 13q, 16q 16

[231] [232] [233] [234] [235] [236] [237] [238]

1q, 2, 4q, 5p, 6p, 7, 8, 11q, 17, 20 11p 1p, 5pq, 7, 8, 11q, 12q, 13 1, 6, 18q, 20 1, 3q, 5p, 6, 7, 8q, 19, 20, 21, X

6q, 8p, 9, 10

[239]

12q, 20q

13q

[244]

1q, 6p, 7q, 8q, 10q, 14q, 15q, 16, 17, 19, 20q, 21q, 22q 1q, 3p, 6p, 7q, 8q, 10q, 12q, 14q, 15q, 16, 17, 19, 20q, 21q, 22q 1q, 7q, 8q, 16, 17, 19, 20q, 21q, 22q

4q, 9p, 11q, 13q

[245]

1p, 9q, 16, 17, 20q, 22q 3p, 5q, 8p, 10, 11q, 13q, 17p

[240] [241] [242] [243]

Breast tumors 20 microdissected cell groups from 2 ductal invasive carcinomas 7 ductal invasive carcinomas

1 invasive ductal cancer

3 metastases 38 ductal invasive carcimomas: 8 well-differentiated 12 intermediately-differentiated 18 poorly-differentiated

4q, 9p, 11q, 13q

2q, 3q, 4q, 5q, 6q, 11q, 12q, 13q, 16q [246]

1q 11q, 17q

16q 11q, 16q (continued)

Table 1 (continued) Tumor type

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90

71

Number of analyzed tumors

Gains

Losses

Reference

77 invasive 6 lobular carcinoma in situ 10 primary

6q, 8p, 13q, 16q, 17p 16q 14q, 16q, 17p, 21q, 22q

[247] [248] [249]

22q

[250]

11 cell lines 40

1q, 3q, 8q, 11q, 17q, 20q 1q 1q, 8q, 16p, 17q, 19q, 20q 1q, 8q, 14q, 16p, 17q, 20q 1q, 3q, 7pq, 8q 1q, 8q, 11q, 16p, 17q, 20q

8p, 18q, Xpq 8p, 11q, 13q, 18q

[251] [252]

19 lobular

1q, 3q, 5p, 8q, 11q, 20pq

[253]

29 ductal

1q, 3q, 5p, 11q, 17q, 20pq 1q, 3q, 4q, 5q, 8q, 11q, 17q, 20q, Xq 1q, 3q, 4q, 8q, 13, 20q 1q, 8q, 20q 1q, 8q, 10p, 17q, 19q, 20pq 1q, 8q, 17q, 20q 6q (primary) Xq (metastases) 1q, 6q, 8q, Xq 1q, 3q, 8, 10p, 17q, 20q 1q, 3q, 8q 1q, 5q, 8q 1q, 5pq, 8q 1q, 7q 1q, 6q, 8q, 17q

1p, 11q, 13, 16q, 17pq, 19p, 22 1p, 11q, 13, 17p, 19p 1p, 4q, 8p, 17p, 19p, 22q

[254]

8p, 11p, 12q, 13q, 16q, 20q 3p, 13q, 18q 13q, 14q, 16q, 17p, 22q

[255] [256] [257]

61

53 carcinomas 48 including 25 recurrent 33 carcinomas 9 dcis 33 primary carcinomas and 5 cell lines 29 primary carcinomas and their metastases 5 ductal invasive carcinomas 5 33 carcinomas 44 ductal 8 lobular 18 phyllodes tumors 31 carcinomas lobular in situ including 7 invasive carcinomas 14 atypical lobular hyperplasias 8 primary invasive carcinomas 23 high-grade ductal invasive carcinoma 17 primary 3 primary carcinomas 19 infiltrating lobular carcinomas 46 infiltrating ductal carcinomas versus 19 carcinomas 11 (primary and metastatic)

16pq, 17p, 22q 3p, 6q 6q, 9p, 13q

1q, 8q, 17q

6q, 8p, 9q, 13q, 16q, 17p, Xp

5pq, 10q, 13q, 18q 1q, 6q, 8q, 17q 1q, 8q, 11q, 16p, 17q, 19

25 invasive lobular

1q, 4, 5q, 8q, 11q, 16p, 17q, 19 1q, 6p, 8pq, 10p, 11q, 12pq, 13q, 16p, 17q 1q, 8q, 16p 1q, 8q, 16p, 17q, 20q 1q, 8q, 11q, 16p, 19, 20q, X 1q, 11q, 16p, 19

40 grade I carcinomas 50 grade II carcinomas 39 invasive ductal carcinomas 15 21 BRCA1 mutation carriers 15 BRCA2 mutation carriers 55 primary carcinomas 26 male breast cancers 78 ductal invasive carcinomas: poorly differentiated well differentiated

17p, 22 8p 17p 1p, 8p, 16p, 17p, 19p, 22q 1p, 8p, 16pq, 17p, 19p, 22q 3pq, 6q 6q, 11q, 16pq, 17p, 22q

6q 1q, 8q, 20q 1q, 6p, 11q, 12q, 16p, 17, 20q 1q, 8q, 9p, 10q, 11q, 15q, 16p, 17q 8p, 17q, 19q, 20q 1q, 15q, 17q 8q, 20q

23 fibroadenomas 29 invasive 80 invasive ductal

20 adenocarcinomas

[258] [259] [260] [261] [262] [263] [264] [265]

[266] [267] [268]

6q, 13q, 16q, 17p, Xq 16q

8p, 13q, 16q, 17p, 19q 1p, 4pq, 6q, 11q, 13q, 16q, 17p, 18q, 21q 1p, 4pq, 6q, 11q, 12p, 13q, 16q, 17p, 18q, 19, 21q, 22 17p, 20, 22

17q, 20q 1q, 5p, 8q, 11q, 16p, 17q, 19pq, 20q 1q, 8q, 17q, 20q

16q 1p, 8p, 11q, 13q, 18q 1p, 4q, 5q, 6q, 9p, 11q, 13q, 16q, 21q 2q, 4, 6q, 9p, 13, 18 2q, 4pq, 5q, 12q 6q, 13q 6q, 8p, 9p, 11q, 13q, 16q, 17p, 18q, Xq 6q, 8p, 13q

8q, 17q 1q

17p 16q

[269] [270]

[271] [272] [273] [274]

[275] [276] [277] [278] [279] [280] [281] [282]

(continued)

Table 1 72 (continued) Tumor type

Female genital organs Ovarian cancers

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

18 initial dcis lesions versus dcis recurrences

17q

8p, 17p

[283]

49 including 47 malignant

1pq, 2q, 3q, 6p, 8q, 12p, 19q, 20q 3q, 8q, 20q 1q, 3q, 7p, 8q, 18p, 19p, 20q 19q 1q, 3q, 5p, 7q, 8q, 9p, 12p, 17q, 19q, 20pq 8q, 17q, 20q, 21q 1q, 2p, 3q, 6p, 7q, 8q, 10q, 11q, 17q 2q, 3q, 6p, 7q, 8q, 11q

4, 13q, 16q, 18q, X

[284]

16q, 17pq 4q, 11p, 12p, 13q, 18q

[285] [286]

Xp 4q, 5q, 9q, 16q, 17pq, 22q

[287] [288]

19p 8p, 9p, 13q

[289] [290]

8p

[291]

1q, 3q, 6p, 8q

8p, Xq

1q, 3q, 7q, 8q, 12p 5, 7, 8q, 13q, 14q, 15q, 20 1q, 3q, 7q, 8q, 12p, 20q 1p, 2q, 4, 5

8p, 17p

56 106 primary 29 chemoresistant 27 carcinomas 12 adenocarcinomas 24 carcinomas 16 BRCA1 mutation-positive inherited carcinomas 4 BRCA2 mutation-positive inherited carcinomas 20 adenocarcinomas 10 borderline

Cancers of the cervix uteri

24 carcinomas 6 dysplasias 62 carcinomas 18 endometriotic tissues 10 dysplasias (4 mild, 6 moderate) 13 severe dysplasias 10 invasive carcinomas 30 advanced-stage carcinomas 12 primary carcinomas 47 endometrial hyperplasia 17 dysplasias/carcinomas 29 advanced-stage carcinomas 27 primary carcinomas

Carcinomas of the vulva Ovarian germ cell Tumors Fallopian tube carcinomas

24 uterine serous carcinomas 24 uterine endometrioid carcinomas 14 endometrial carcinomas 51 endometrial carcinomas 15 endometrial cancers 10 primary invasive 21 12 20 primary

Male genital organs Testicular germ cell

11 15 primary 4 yolk sac 16 seminomas 17 17 chemotherapy-resistant 8 seminomas 10 nonseminomas 8 seminomas, 14 nonseminomas, 2 combined tumors

6q, 7q, 17q no recurrent aberrations 3q (1 case) 3q 1q, 3q, 5p, 6p, 8, 9p, 11q, 12p, 14q, 17q, 19q, 20 1pq, 3q, 5p, 14q, 16pq, 17q, 19, 20q, 22q 4q 3q 1q, 3q, 5p, 8q, 15q, Xq 1q, 3q, 5p, 8q, 16q, 20q, Xq 1q, 3q, 5p, 6p, 8q 1q, 2q, 8q 1q, 8q, 10pq, 13q 1q, 8q, 19p 1q, 8q 3q, 8p 1q, 4q, 8, 12p, 21 1q, 2q, 3q, 5p, 6p, 7q, 8q, 12p, 14q 1q, 3q, 5p, 7q, 8q, 12p, 20q 2p, 4q, 6p, 8, 12p, 14, 7, 8, 12p, X 3p, 9q, 12p, 17, 19q, 20q, 22 1q, 6pq, 7, 8, 9q, 12, 14q, 15q, 21q, 22q 12p 1q, 2p, 7q, 9q, 15q, 20q 1q, 2, 3, 6, 7p, 8, 12pq, 14, 15, 20, 21, X 1q, 2, 3q, 6, 7p, 8, 12pq, 14, 15, 16, 17, 20, 21, X 1q, 2pq, 5q, 6q, 7, 8, 12p, 13q, Xq

[292] 5q, 8p, 13q, 16q, Xq 6q, 13q 3p, 4pq, 5q, 6q, 9p, 11p, 13q, 18q, Xq 1p, 5p, 6q, 7p, 9q, 16, 22q

[293] [294] [295]

2q, 3p, 4, 8p, 13q

[298]

2q, 3p, 4, 5q, 6q, 11q, 13q

[299]

1p, 16p, 20q

[300] [301]

[296] [297]

3p, 4p, 6q, 11q, 13q 3p

[302]

4q, 15q, 18q

[303]

4q 3p, 4p, 5q 13 1p, 6q, 8p, 16q, 17p, 18q, 22q, Xq 4q, 5q, 8p, 18q

[304] [305] [306] [307] [308] [309] [310]

13 13q 4q, 6q, 8q

[311] [312] [313]

4, 5, 11, 13q, 16pq, 18q

[314] [315]

4, 5, 9, 11, 13, 17, 18

[316]

4, 5, 9, 10, 11, 12q, 13, 18 1p, 4, 5, 9q, 11q, 16p, 18p, 19, 22

[317] (continued)

Table 1 (continued) Tumor type Prostate cancers

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

18 31 including 20 metastatic

8q 1q, 2p, 3q, 8q, 11p

[318] [319]

32 primary 27

5q, 8q 1q, 8q, 10q, 17q, Xpq

10 including 3 metastatic 6 37 carcinomas

7q, 8q, 9q, 16p, 20, 22 Xq 7q, 8q, 18q, Xq

21 primary 16 adenocarcinomas

3p, 6p, 7q, 10q, 11q, 16q 6q, 8p, 9p, 13q, 16q, 18q 16q

[327] [328] [329]

16 carcinomas, 5 metastases

7q, 19pq 3q, 4, 5, 6q, 7q, 8q, 9p, 12q, 13q, Xq 4q, 6q, 8q, 21q, X 7, 8q, X 1p, 2p, 3q, 7, 8q, 11q, 16p, 17, 19 7, 8q, 9q, 12q, 15q, 16

8p, 13q, 16pq, 17pq, 20q, Y 2q, 5q, 6q, 8p, 10q, 13q, 15q, 16q, 17p 5q, 8p, 13q, 16q 2q, 4q, 5q, 6q, 8p, 13q, 16q, 18q 16q, 18q 6q 1p, 8p, 10q, 13q, 16q, 19, 22 6q, 8p, 13q

[330]

12 intraepithelial neoplasias

7, 8q, Xq

2q, 4q, 5q, 6q, 8p, 13q, 18q, Xq 4q, 5q, 8p, 13q, 18q

20 high-grade 14 (3 primary,1 metastatic, 7 xenografts, 3 metastatic xenografts) 2 (primary and metastases) 16 7 parosteal 11 10 31 primary high-grade 29 50

1p, 3q, 6p, 8q, 12pq 1q, 6p, 8q, 17p

3p, 10q, 11p, 13

[331] [332]

20 31 primary, 9 recurrent 4 invasive

Bone and soft tissues Osteosarcomas

Chondrosarcomas

Ewing sarcomas

Malignant fibrous Histiocytomas

Soft tissue sarcomas

Liposarcomas

Leiomyosarcomas

Synovial sarcomas

73

20 17 28 primary 20 58 (43 primary, 13 recurrent, 2 metastases) 30 (13 primary, 17 recurrent)

19 34 54a 12 angiomyolipomas 30 epithelioid sarcomas 69b 14 6 well-differentiated 14 8 12 benign lipomas 29 12 uterine leiomyomas, 8 uterine 14 14 uterine leiomyomas, 8 uterine 14 leiomyomas 69 67

17p, 19q 1p, 4q, 5p, 7q, 8q 2pq, 11p, 12q, 14, 15q 3q, 8q, 12q, 17p, Xpq 6p, 12pq 1q, 8q, 14q, Xp 1q, 12q, 14q, 17p, 20pq 5q, 6p, 7, 8q, 12q, 14q, 20pq 1q, 8, 12 1q, 8q 1q, 6p, 7q, 8, 12 3, 4q, 5p, 6, 7, 12q, 14q, 15q, 18p 1p, 5p, 7pq, 9q, 13q 1pq, 3q, 5p, 13q, 15q, 17pq, 18p, 19pq, 20q, 22q, Xp 4q, 8pq, 9q, 12p, 15q 1q, 17q, 20q 1q, 12q 1q, 6p, 9q, 11q 7p, 8q, 13 1q, 12q 12q 1q, 8q, 12q, 19q, 20q 1q, 12q no changes 1q, 5p, 6q, 8q, 16p, 17p 1p, 9q, 12q, 19 1q, 8, 12q, 17, 19p, X 5p, 8q, 17pq, Xp 14, 19 1pq 3, 4, 5, 8, 17 2, 8, 12q 1q, 2p, 8pq, 12q, 17q, 21q

[320] [321] [322] [323] [324] [325] [326]

6q 6q, 9p 6q, 18q, Xq

[333] [334] [335] [336] [337] [338] [339] [340]

16q 2q, 4q, 8p, 9p, 12p, 19p

[341] [21] [342] [343]

13q

[344]

1q, 2pq, 3p, 4q, 9p, 10pq, 11pq, 12p, 13q, 16q

[345]

7p 5q, 13 2q, 6q, 8p, 10p

9p, 10q, 11q, 13q 2q, 5q, 11q 1p, 3p, 4q, 9p, 13q 2pq, 11q, 13, 14

9p, 13q

[346] [347] [348] [349] [350] [351] [21] [352] [353] [354]

10q, 13q 1p, 7q 1p, 10q, 13q, 14q, 22q 2pq, 10q, 13q 1, 4

[355] [356] [357] [358]

16p 3p, 13q 3pq, 10q, 13q

[75] [359] [360] (continued)

74 Table 1 (continued) Tumor type Rhabdomyosarcomas

Alveolar soft part sarcoma Solitary fibrous tumors

Dermatofibrosarcoma Protuberans Desmoid tumors Radiation-associated Sarcomas Trophoblastic tumors Choriocarcinomas Hematological neoplasias Chronic lymphoproliferative disorders

Lymphomas T-cell B-cell

Small lymphocytic Lymphoma Mantle Cell Lymphoma

Follicular Lymphoma Marginal zone B-cell Lymphoma/MALT

Primary mediastin Lymphoma

Diffuse large cell

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90 Number of analyzed tumors

Gains

Losses

Reference

12 embryonal 34 alveolar 10 embryonal 11 alveolar 10 embryonal, 34 alveolar 2 alveolar 13 12 15 11 hemangiopericytomas 3 7 28 10c

2, 7, 8, 11, 12, 13q, 20 2p, 12q, 13q 2, 5, 6, 7, 8, 11, 12 2p, 12q 2, 7, 8, 12, 13, 17, 18, 19 1q, 2p, 8q, 12q, 13q, 17 1p, 13q 1q, 8q, 12q, 16p 8, 15q 5q, 7, 8, 12, 18 no changes 17, 22 17q, 22q 1q, 9p, 20 5p, 7q, 15q

1p, 6, 9q, 14q, 17 9q, 16q, 17 19

[361] [362] [363]

10, 14, 15, 16

[364]

4q, 13q, 21q 13, 20q

[365] [366] [367] [368]

5q, 6q, 13q 13

[369] [370] [371] [372]

12

7q

8p

[373]

28 CLL 88 CLL 25 CLL 12 hairy cell leukemia 15 typical, 28 atypical

8q, 12 12 12 5 3, 4, 5, 6, 12, 13, 18

6q, 11q, 13q, 17p 11q, 13q, 17p 11q, 13q 7q 17p

[374] [375] [376] [377] [378]

12 T-cell leukemia/lymphoma 1 stage IV 108 (42 chronic B-cell leukemias, 5 mantle cell lymphomas, 61 agressive B-cell lymphomas)

2p, 7q, 14q 6p, 7q, 10p, Xp 2p, 18q, Xq

4q

[379] [380] [381]

7 45 27 with t(11;14) 27 34 28 centrofollicular lymphomas 3 MALT 25 MZBCL 29 MZBCL

12 3q, 7p, 8q, 9q, 12q, 18q 3q, 8q, 12q, 18q 3q, 8q, 15q 2, 6p, 7, 8q, 18q, X 1p, 6p, 7, 8, 12, 18, X 7q, 11q 1q, 3, 8q, 18, X 3q, 4q, 5pq, 9q, 12q, 17q, 20q

43 26 5 31 8 primary central nervous system lymphomas 1 28 32

9p, Xq 2p, 9p, 12q, Xq 9p 1q, 2p, 3q, 8q, 11, 12 12, 18q, X

26 20 22 19 Hodgkin disease

Multiple myelomas/Plasma cell leukemias

19 lymphocyte predominance HD 12 9 24 plasmocytomas

2p 18q 1q, 3, 6p, 7, 10p, 11, 12, 17p, 18, X 18q 1q, 2p, 8q, 9q, 12q, 13q, 16p, 18q, 22q 1q, 7q, 11, 12q, 18q 1q, 9q, 11q,12pq, 16p, 17q, 18q, 22q 1, 2q, 3, 4q, 5q, 6, 8q, 11q, 12q, X 2p, 4pq, 9p, 12q 1p, 7q 1q, 5p, 6p, 7p, 8q, 9q, 11q, 15, 19p

1p, 6q, 9p, 10p, 11q, 13, 17p 1p, 6q, 8p, 9p, 11q, 13q 1p, 6q, 9p, 11q, 13q 6q, 17p 6q 9, 17 7q, 17p

[382] [383] [384] [385] [386] [387] [388] [389] [390]

6q, 17p 6q

[391] [392] [393] [394] [395]

1p, 6q, 8p, X

[396] [21] [397]

13

[398] [399] 6pq, 17p, 18p, 20 6q

[400] [401]

17

[402]

16q 1p, 6q, 8p, 13q, 14q, X

[403] [404] [405] (continued)

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90

75

Table 1 (continued) Tumor type

Acute myeloid leukemias

Acute lymphoid leukemias

Natural killer cell Lymphoma/leukemia Myeloproliferative disorders

Myelodysplastic syndromes

Number of analyzed tumors

Gains

Losses

Reference

2 MM, 5 plasma cell leukemias, 1 gastric plasmacytoma, 13 cell lines 25 MM, 4 monoclonal gammopathy, 1 Waldenstrom 25 MM 5 plasma cell leukemias

1q, 3p, 3q, 7, 8q, 11q

6q, 13q, 14q, 17p

[406]

9q, 11q, 12q, 15q, 17q, 19, 22q 1q, 3q, 9q, 11q, 15q 1q

6q, 13, 16q

[407]

13q (28%), 16 (12%) 2q, 6p, 13q (80%), 16 (80%) 7q

[408]

AML M5 AML M2 AML M4 AML M2 AML M2 10 AML M2 25 21 2 AML secondary to MDS 3 AML secondary to MDS 1 AML secondary to CLL 1 AML secondary to essential thrombocythemia 1 AML secondary to thrombopenia 1 AML secondary to malignant histiocytosis 1 AML secondary to breast cancer 19 11 20 AML M3 AML 9 3 AML secondary to MDS 3 secondary AML 65 13 72 71 (50 B, 21 T) 14 10 11 CML blast crisis 38 CML 6 CML RAEB 10 7 RAEB-T 3 2 RAEB 45

6 17q 13 8 4, 6, 18, 21 9p, 11q 8q 1, 8, 18 13 3q, 7q, 13q 4q, 21

17p 7q 5q, 7 5q, 7q, 12p 5q, 7, 9q, 18, 20q 5q 6q, 17pq, 18p 7pq 5q, 6q, 7q

8, 20 5pq

11q

6pq, 8, 13 6, 8 8q 8, 17q 8q 8q, 11q 8q, 11q 5q, 12p, 20q 4p, 9q, 10q, 19, 21, 22 12p 4, 6, 10, 14, 17, 18, 21, X 4, 8, 10, 14, 17, 18, 21, X 1q, 10, 17, 18, 21, X 4, 6, 10, 14, 17, 18, 21, X 4, 6, 8, 10, 14, 17, 18, 21, X, Y 1p, 6p, 11q, 12q, 17q, 19p, 20q, Xp 8q 17q, 20 8

5q, 6p, 7pq 7, X 5q, 7q, 17p 5q, 7q

1, 16, 17

Xq 21

[409]

5q, 7q 3p, 5q, 7q, 12q, 13, 17p 5q

[410] [411] [412] [413] [414]

[415] [416] [417] [418] [419] [420]

9p, 12p 6q(T), 9p, 12p 9p

[421] [422] [423] [424] [425] [426] [427]

6q, 13q, 11q, 17p, X

[428]

17p 7 5q 5q, 7, 13 5q, 7, 20q 5q 5q, Xp

[429] [430] [421] [409] [410] [413] [420] [421]

5, 7, Y

[431]

6q, 7p, 9p, 12p, 13q, X

Abbreviations: AML, acute myelogenous leukemia; CLL, chronic lymphocytic leukemia; CML, chronic myelogenous leukemia; dcis, ductal carcinoma in situ; MDS, myelodysplastic syndrome; MM, multiple myeloma; NSCLC, nonsmall cell lung carcinoma; RAEB, refractory anemia with excess blasts; RAEB-T, refractory anemia with excess blasts in transformation; SCC, small cell carcinomas; SCLC, small cell lung carcinoma. a Fibrosarcoma (1), leiomyosarcomas (12), liposarcomas (22), malignant fibrous histiocytoma (16), and malignant schwannomas (3). b Malignant fibrous histiocytomas (20), liposarcomas (23), leiomyosarcomas (6), synovial sarcomas (4), primitive neuroectodermal tumors (4), and various other subtypes (12). c Malignant fibrohistiocytomas (2), leiomyosarcomas (2), pleiomorphic sarcomas (2), osteosarcoma (1), fibrosarcoma (1), myxofibrosarcoma (1), and spindle cell sarcoma (1). The studies published between 1993 and May 2001 are presented. For each publication, the number of studied cases and the comparative genomic hybridization results (gains and losses) are mentioned. These results are classified according to the type of tumor. We eliminated publications having studied only one case or only one precise chromosomal region or commercial cell lines.

76

S. Struski et al. / Cancer Genetics and Cytogenetics 135 (2002) 63–90

Fig. 1. Frequency of chromosomal gains and losses. This table was established from the review of the literature (Table 1). The number of publications and total number of studied cases are indicated in parentheses. Imbalances are classed by frequency: presence in 70–100% of cases (black square), 40–69% of cases (gray square), and less than 40% of cases (crosshatched square). The gains or losses observed only once were eliminated. Another limiting criterion was that at least 100 tumors had to be studied in each considered group.

of cancer are mainly in the use of metaphase chromosomes as hybridization targets; therefore, its resolution is at the chromosomal banding level. Thus, array technology adapted to CGH (array-CGH) will allow the resolution to increase from a cytogenetic level to a molecular level [436–438]. The establishment of a pattern of genetic abnormalities for each tumor type should allow precise different histological classifications and the prediction of which chemotherapeutic drugs will be most effective in the treatment of a given type of cancer.

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Fig. 1. Continued.

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