Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma

Modern Pathology

Volumn 22, Issue 11, 2009, Pages 1499-1506

  Yasuda, Taketoshi ^a   Nishio, Jun ^a   Sumegi, Janos ^b   Kapels, Kayla M ^a   Althof, Pamela A ^a   Sawyer, Jeffrey R ^c   Reith, John D ^d   Bridge, Julia A ^a  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^d Unit of Bone and Soft Tissue Pathology   (United States)

Author keywords

Chondromyxoid fibroma; COL12A1; Cytogenetics; Fluorescence in situ hybridization

Indexed keywords

COLLAGEN;

ADOLESCENT; ADULT; ARTICLE; BONE TUMOR; CHILD; CHONDROMYXOID FIBROMA; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; COL12A1 GENE; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE LOCUS; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERPHASE; MALE; METAPHASE; PRIORITY JOURNAL;

EID: 70350666382     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2009.101     Document Type: Article

References (27)

1. Jaffe HL, Lichtenstein L. Chondromyxoid fibroma of bone: distinctive benign tumor likely to be mistaken especially for chondrosarcoma. Arch Pathol 1948;45:541-551
2. Unni KK, Inwards CY, Bridge JA, et al Chondromyxoid fibroma. In: Silverberg SG, Sobin LH (eds) AFIP Atlas of Tumor Pathology, Tumor of the Bones and Joints. ARP Press: Silver Spring, 2005. pp 67-73
3. Wu CT, Inwards CY, O'Laughlin S, et al Chondromyx-oid fibroma of bone: a clinicopathologic review of 278 cases. Hum Pathol 1998;29:438-446
4. Ostrowski ML, Spjut HJ, Bridge JA. Chondromyxoid fibroma. In: Fletcher CDM, Unni KK, Mertens F (eds) WHO Classification of Tumours, Pathology and Genetics of Tumours of Soft Tissue and Bone. IARC Press: Lyon, France, 2002. pp 243-245
5. Bridge JA, Sanger WG, Neff JR. Translocations involving chromosomes 2 and 13 in benign and malignant cartilaginous neoplasms. Cancer Genet Cytogenet 1989;38:83-88
6. Tarkkanen M, Bohling T, Helio H, et al A recurrent chondromyxoid fibroma with chromosome aberrations ins(5;2)(q13;p21p25) and 2p deletion: a case report. Cancer Genet Cytogenet 1993;65:141-146
7. Halbert AR, Harrison WR, Hicks MJ, et al Cytogenetic analysis of a scapular chondromyxoid fibroma. Cancer Genet Cytogenet 1998;104:52-56
8. Sawyer JR, Swanson CM, Lukacs JL, et al Evidence of an association between 6q13-21 chromosome aberrations and locally aggressive behavior in patients with cartilage tumors. Cancer 1998;82:474-483
9. Granter SR, Renshaw AA, Kozakewich HP, et al The pericentromeric inversion, inv(6)(p25q13), is a novel diagnostic marker in chondromyxoid fibroma. Mod Pathol 1998;11:1071-1074
10. Safar A, Nelson M, Neff JR, et al Recurrent anomalies of 6q25 in chondromyxoid fibroma. Hum Pathol 2000;31:306-311
11. Tallini G, Dorfman H, Brys P, et al Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours: a report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group. J Pathol 2002;196:194-203
12. Sjögren H, Orndal C, Tingby O, et al Cytogenetic and spectral karyotype analyses of benign and malignant cartilage tumours. Int J Oncol 2004;24:1385-1391
13. Smith CA, Magenis RE, Himoe E, et al Chondromyxoid fibroma of the nasal cavity with an interstitial insertion between chromosomes 6 and 19. Cancer Genet Cyto-genet 2006;171:97-100
14. Armah HB, McGough RL, Goodman MA, et al UNM. Chondromyxoid fibroma of rib with a novel chromosomal translocation: a report of four additional cases at unusual sites. Diagn Pathol 2007;2:44
15. Jhala D, Coventry S, Rao P, et al Juvenile juxtacortical chondromyxoid fibroma of bone: a case report. Hum Pathol 2008;39:960-965
16. Althof PA, Ohmori K, Zhou M, et al Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization. Mod Pathol 2004;17:518-525
17. Shaffer LG, Tommerup N, (Eds) An International System for Human Cytogenetic Nomenclature. S Karger: Basel, 2005
18. Huebner K, Cannizzaro LA, Jabs EW, et al Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21-q22. Genomics 1992;14:220-224
19. Oh SP, Taylor RW, Gerecke DR, et al The mouse a1(XII) and human a1(XII)-like collagen genes are localized on mouse chromosome 9 and human chromosome 6. Genomics 1992;14:225-231
20. Watt SL, Lunstrum GP, McDonough AM, et al Characterization of collagen types XII and XIV from fetal bovine cartilage. J Biol Chem 1992;267:20093-20099
21. Oh SP, Griffith CM, Hay ED, et al Tissue-specific expression of type XII collagen during mouse embryonic development. Dev Dyn 1993;196:37-46
22. Walchli C, Koch M, Chiquet M, et al Tissue-specific expression of the fibril-associated collagens XII and XIV. J Cell Sci 1994;107:669-681
23. Dharmavaram RM, Huynh AI, Jimenez SA. Characterization of human chondrocyte and fibroblast type XII collagen cDNAs. Matrix Biol 1998;16:343-348
24. Gregory KE, Keene DR, Tufa SF, et al Developmental distribution of collagen type XII in cartilage: association with articular cartilage and the growth plate. J Bone Miner Res 2001;16:2005-2016
25. Storiazzi CT, Wozniak A, Panagopoulos I, et al Rearrangements of the COL12A1 and COL4A5 genes in subungual exostosis: molecular cytogenetic delineation of the tumor-specific translocation t(X;6)(q13-14;q22). Int J Cancer 2006;118:1972-1976
26. Simon M-P, Pedeutour F, Sirvent N, et al Deregulation of the platelet-derived growth factor b-chain gene via fusion with collagen gene COL1A1 in dermatofibro-sarcoma protuberans and giant cell fibroblastoma. Nat Genet 1997;15:95-98
27. Oliveira AM, Perez-Atayde AR, Dal Cin P, et al Aneurysmal bone cyst variant translocations upregu-late USP6 transcription by promoter swapping with the ZNF9, COL1A1, TRAP150, and OMD genes. Oncogene 2005;24:3419-3426