Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Robanus Maandag, Els ^a   Bosch, Cathy ^a   Amini Nik, Saeid ^b,d   Knijnenburg, Jeroen ^a   Szuhai, Karoly ^a   Cervera, Pascale ^c   Poon, Raymond ^d   Eccles, Diana ^e   Radice, Paolo ^f   Giovannini, Marco ^c   Alman, Benjamin A ^d   Tejpar, Sabine ^b   Devilee, Peter ^a   Fodde, Riccardo ^g  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c FONDATION JEAN DAUSSET CEPH   (France)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^f NATIONAL CANCER INSTITUTE   (Italy)

^g JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; APC GENE; ARTICLE; CHILD; CHROMOSOME 20Q; CHROMOSOME 5Q; CHROMOSOME 6Q; CHROMOSOME 8Q; CHROMOSOME ADDITION; CHROMOSOME LOSS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CTNNB1 GENE; DESMOID TUMOR; DISEASE ASSOCIATION; FAMILIAL ADENOMATOUS POLYPOSIS; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRESCHOOL CHILD; SCHOOL CHILD; SOMATIC MUTATION; ABDOMINAL TUMOR; CHROMOSOME 5; CHROMOSOME 6; COLON POLYPOSIS; FIBROMATOSIS; GENE DOSAGE; GENETICS; MIDDLE AGED; NEWBORN;

ABDOMINAL NEOPLASMS; ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, PAIR 6; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FIBROMATOSIS, AGGRESSIVE; GENE DOSAGE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 80052566953     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0024354     Document Type: Article

References (40)

1. Clark SK, Phillips RK, (1996) Desmoids in familial adenomatous polyposis. Br J Surg 83: 1494-1504.
2. Wu C, Nik-Amini S, Nadesan P, Stanford WL, Alman BA, (2010) Aggressive fibromatosis (desmoid tumor) is derived from mesenchymal progenitor cells. Cancer Res 70: 7690-7698.
3. Fallen T, Wilson M, Morlan B, Lindor NM, (2006) Desmoid tumors - a characterization of patients seen at Mayo Clinic 1976-1999. Fam Cancer 5: 191-194.
4. Lips DJ, Barker N, Clevers H, Hennipman A, (2009) The role of APC and beta-catenin in the etiology of aggressive fibromatosis (desmoid tumors). Eur J Surg Oncol 35: 3-10.
5. Fodde R, Khan PM, (1995) Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Crit Rev Oncog 6: 291-303.
6. Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Tanaka K, et al. (1993) Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis. Cancer Res 53: 5079-5082.
7. Sen-Gupta S, Van der Luijt RB, Bowles LV, Meera Khan P, Delhanty JD, (1993) Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis. Lancet 342: 552-553.
8. Latchford A, Volikos E, Johnson V, Rogers P, Suraweera N, et al. (2007) APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. Hum Mol Genet 16: 78-82.
9. Fodde R, Smits R, Clevers H, (2001) APC, signal transduction and genetic instability in colorectal cancer. Nat Rev Cancer 1: 55-67.
10. Eccles DM, Van der Luijt R, Breukel C, Bullman H, Bunyan D, et al. (1996) Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene. Am J Hum Genet 59: 1193-1201.
11. Van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, et al. (1996) Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli. Hum Genet 98: 727-734.
12. Tejpar S, Nollet F, Li C, Wunder JS, Michils G, et al. (1999) Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). Oncogene 18: 6615-6620.
13. Tejpar S, Li C, Yu C, Poon R, Denys H, et al. (2001) Tcf-3 expression and β-catenin mediated transcriptional activation in aggressive fibromatosis (desmoid tumour). Br J Cancer 85: 98-101.
14. Larramendy ML, Virolainen M, Tukiainen E, Elomaa I, Knuutila S, (1998) Chromosome band 1q21 is recurrently gained in desmoid tumors. Genes Chromosomes Cancer 23: 183-186.
15. Qi H, Dal Cin P, Hernández JM, Garcia JL, Sciot R, et al. (1996) Trisomies 8 and 20 in desmoid tumors. Cancer Genet Cytogenet 92: 147-149.
16. Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, et al. (1999) Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. Am J Pathol 154: 729-733.
17. De Wever I, Dal Cin P, Fletcher CDM, Mandahl N, Mertens F, et al. (2000) Cytogenetic, clinical, and morphologic correlations in 78 cases of fibromatosis: a report from the CHAMP study group. Mod Pathol 13: 1080-1085.
18. Brandal P, Micci F, Bjerkehagen B, Eknaes M, Larramendy M, et al. (2003) Molecular cytogenetic characterization of desmoid tumors. Cancer Genet Cytogenet 146: 1-7.
19. Salas S, Chibon F, Noguchi T, Terrier P, Ranchere-Vince D, et al. (2010) Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors. Genes Chromosomes Cancer 49: 560-568.
20. Knijnenburg J, Szuhai K, Giltay J, Molenaar L, Sloos W, et al. (2005) Insights from genomic microarrays into structural chromosome rearrangements. Am J Med Genet 132A: 36-40.
21. Jong K, Marchiori E, Meijer G, Van der Vaart A, Ylstra B, (2004) Breakpoint identification and smoothing of array comparative genomic hybridization data. Bioinformatics 20: 3636-3637.
22. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleid Acids Res 30 (12): e57.
23. White SJ, Vink GR, Kriek M, Wuyts W, Schouten J, et al. (2004) Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat 24: 86-92.
24. Van Eijck R, Eilers PHC, Natté R, Cleton-Jansen A-M, Morreau H, et al. (2010) MLPAinter for MLPA interpretation: an integrated approach for the analysis, visualisation and data management of Multiplex Ligation-dependent Probe Amplification. BMC Bioinformatics 11: 67.
25. Fodde R, Kuipers J, Rosenberg C, Smits R, Kielman M, et al. (2001) Mutations in the APC tumour suppressor gene cause chromosomal instability. Nat Cell Biol 3: 433-438.
26. Fletcher JA, Naeem R, Xiao S, Corson JM, (1995) Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence. Cancer Genet Cytogenet 79: 139-143.
27. De Angelis PM, Stokke T, Beigi M, Flatberg G, Enger M, et al. (2007) Chromosomal 20q gain in the DNA diploid component of aneuploid colorectal carcinomas. Int J Cancer 120: 2734-2738.
28. Postma C, Terwischa S, Hermsen MAJA, Van der Sijp JRM, Meijer GA, (2007) Gain of chromosome 20q is an indicator of poor prognosis in colorectal cancer. Cell Oncol 29: 73-75.
29. Buffart TE, Van Grieken NCT, Tijssen M, Coffa J, Ylstra B, et al. (2009) High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers. Virchows Arch 455: 213-223.
30. Schoch C, Kohlmann A, Dugas M, Kern W, Schnittger S, et al. (2006) Impact of trisomy 8 on expression of genes located on chromosome 8 in different AML subgroups. Genes Chromosomes Cancer 45: 1164-1168.
31. Sparks AB, Morin PJ, Vogelstein B, Kinzler KW, (1998) Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer. Cancer Res 58: 1130-1134.
32. Rosato R, Veltmaat JM, Groffen J, Heisterkamp N, (1998) Involvement of the tyrosine kinase Fer in cell adhesion. Mol Cell Biol 18: 5762-5770.
33. Putzke AP, Rothman JH, (2010) Repression of Wnt signaling by a Fer-type nonreceptor tyrosine kinase. Proc. Natl. Acad. Sci. U S A 107: 16154-16159.
34. Schwarz-Romond T, Asbrand C, Bakkers J, Kühl M, Schaeffer H-J, et al. (2002) The ankyrin repeat protein Diversin recruits Casein kinase Iε to the β-catenin degradation complex and acts in both canonical Wnt and Wnt/JNK signaling. Genes Dev 16: 2073-2084.
35. Sasaki S, Ito E, Toki T, Maekawa T, Kanezaki R, et al. (2000) Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15. Oncogene 19: 3739-3749.
36. Liu W, Chang B-L, Cramer S, Koty PP, Li T, et al. (2007) Deletion of a small consensus region at 6q15, including the MAP3K7 gene, is significantly associated with high-grade prostate cancers. Clin Cancer Res 13: 5028-5033.
37. Depaepe V, Suarez-Gonzalez N, Dufour A, Passante L, Gorski JA, et al. (2005) Ephrin signalling controls brain size by regulating apoptosis of neural progenitors. Nature 435: 1244-1250.
38. Kwon J, Cho HJ, Han SH, No JG, Kwon JY, et al. (2010) A novel LZAP-binding protein, NLBP, inhibits cell invasion. J Biol Chem 285: 12232-12240.
39. Kresse SH, Ohnstad HO, Paulsen EB, Bjerkehagen B, Szuhai K, et al. (2009) LSAMP, a novel candidate tumor suppressor gene in human osteosarcomas, identified by array comparative genomic hybridization. Genes Chromosomes Cancer 48: 679-693.
40. Remke M, Pfister S, Kox C, Toedt G, Becker N, et al. (2009) High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-β and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response. Blood 114: 1053-1062.