Desmoid tumor causes: Difference between revisions

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__NOTOC__
__NOTOC__
{{Desmoid tumor}}
{{Desmoid tumor}}
{{CMG}} {{AE}}{{Faizan}}
{{CMG}} {{AE}}{{S.M.}}
==Overview==
==Overview==
There are no established direct causes for desmoid tumor.
The exact [[etiology]] of [[Desmoid tumor|desmoid tumors]] is unknown. However, [[Wnt signaling pathway|Wnt]]/[[beta-catenin]] [[signaling pathway]], [[APC gene|APC]] [[mutations]], CTNNB1 [[Beta-catenin|(beta-catenin) gene]] [[mutations]], sporadic [[tumors]] and [[trisomy 8]] and [[trisomy]] 20 seem to play a role in [[development]] of sporadic [[Desmoid tumor|desmoids]] in adults. [[Familial]] [[Desmoid tumor|desmoids]] in [[FAP]] [[patients]] are associated with [[germline]] [[APC]] [[mutations]]. [[Pediatric]] [[Desmoid tumor|desmoids]] have [[AKT1 gene|AKT1 E17K]], [[BRAF (gene)|BRAF V600E]] and [[TP53|TP53 R273H]] [[mutations]] in addition to CTNNB1 [[mutations]].
==Causes==
==Causes==
There are no established direct causes for desmoid tumor.
* Causes of desmoid tomurs may include:<ref name="pmid11048801">{{cite journal| author=De Wever I, Dal Cin P, Fletcher CD, Mandahl N, Mertens F, Mitelman F et al.| title=Cytogenetic, clinical, and morphologic correlations in 78 cases of fibromatosis: a report from the CHAMP Study Group. CHromosomes And Morphology. | journal=Mod Pathol | year= 2000 | volume= 13 | issue= 10 | pages= 1080-5 | pmid=11048801 | doi=10.1038/modpathol.3880200 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11048801  }} </ref><ref name="pmid10732754">{{cite journal| author=Middleton SB, Frayling IM, Phillips RK| title=Desmoids in familial adenomatous polyposis are monoclonal proliferations. | journal=Br J Cancer | year= 2000 | volume= 82 | issue= 4 | pages= 827-32 | pmid=10732754 | doi=10.1054/bjoc.1999.1007 | pmc=2374411 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10732754  }} </ref><ref name="pmid9736021">{{cite journal| author=Li C, Bapat B, Alman BA| title=Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor). | journal=Am J Pathol | year= 1998 | volume= 153 | issue= 3 | pages= 709-14 | pmid=9736021 | doi= | pmc=1853030 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9736021  }} </ref><ref name="pmid21859899">{{cite journal| author=Escobar C, Munker R, Thomas JO, Li BD, Burton GV| title=Update on desmoid tumors. | journal=Ann Oncol | year= 2012 | volume= 23 | issue= 3 | pages= 562-9 | pmid=21859899 | doi=10.1093/annonc/mdr386 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21859899  }} </ref><ref name="pmid9744495">{{cite journal| author=Giarola M, Wells D, Mondini P, Pilotti S, Sala P, Azzarelli A et al.| title=Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours. | journal=Br J Cancer | year= 1998 | volume= 78 | issue= 5 | pages= 582-7 | pmid=9744495 | doi= | pmc=2063069 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9744495  }} </ref><ref name="pmid19099242">{{cite journal| author=Barker N| title=The canonical Wnt/beta-catenin signalling pathway. | journal=Methods Mol Biol | year= 2008 | volume= 468 | issue=  | pages= 5-15 | pmid=19099242 | doi=10.1007/978-1-59745-249-6_1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19099242  }} </ref><ref name="pmid19436199">{{cite journal| author=Lazar AJ, Hajibashi S, Lev D| title=Desmoid tumor: from surgical extirpation to molecular dissection. | journal=Curr Opin Oncol | year= 2009 | volume= 21 | issue= 4 | pages= 352-9 | pmid=19436199 | doi=10.1097/CCO.0b013e32832c9502 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19436199  }} </ref><ref name="pmid25838078">{{cite journal| author=Aitken SJ, Presneau N, Kalimuthu S, Dileo P, Berisha F, Tirabosco R et al.| title=Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses. | journal=Virchows Arch | year= 2015 | volume= 467 | issue= 2 | pages= 203-10 | pmid=25838078 | doi=10.1007/s00428-015-1765-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25838078  }} </ref><ref name="pmid10597266">{{cite journal| author=Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P et al.| title=Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). | journal=Oncogene | year= 1999 | volume= 18 | issue= 47 | pages= 6615-20 | pmid=10597266 | doi=10.1038/sj.onc.1203041 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10597266  }} </ref><ref name="pmid16505440">{{cite journal| author=Heinrich MC, McArthur GA, Demetri GD, Joensuu H, Bono P, Herrmann R et al.| title=Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor). | journal=J Clin Oncol | year= 2006 | volume= 24 | issue= 7 | pages= 1195-203 | pmid=16505440 | doi=10.1200/JCO.2005.04.0717 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16505440  }} </ref><ref name="pmid11983872">{{cite journal| author=Cheon SS, Cheah AY, Turley S, Nadesan P, Poon R, Clevers H et al.| title=beta-Catenin stabilization dysregulates mesenchymal cell proliferation, motility, and invasiveness and causes aggressive fibromatosis and hyperplastic cutaneous wounds. | journal=Proc Natl Acad Sci U S A | year= 2002 | volume= 99 | issue= 10 | pages= 6973-8 | pmid=11983872 | doi=10.1073/pnas.102657399 | pmc=124513 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11983872  }} </ref><ref name="pmid11823972">{{cite journal| author=Abraham SC, Reynolds C, Lee JH, Montgomery EA, Baisden BL, Krasinskas AM et al.| title=Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway. | journal=Hum Pathol | year= 2002 | volume= 33 | issue= 1 | pages= 39-46 | pmid=11823972 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11823972  }} </ref><ref name="pmid17785554">{{cite journal| author=Signoroni S, Frattini M, Negri T, Pastore E, Tamborini E, Casieri P et al.| title=Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. | journal=Clin Cancer Res | year= 2007 | volume= 13 | issue= 17 | pages= 5034-40 | pmid=17785554 | doi=10.1158/1078-0432.CCR-07-0336 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17785554  }} </ref><ref name="pmid15654359">{{cite journal| author=Cheon S, Poon R, Yu C, Khoury M, Shenker R, Fish J et al.| title=Prolonged beta-catenin stabilization and tcf-dependent transcriptional activation in hyperplastic cutaneous wounds. | journal=Lab Invest | year= 2005 | volume= 85 | issue= 3 | pages= 416-25 | pmid=15654359 | doi=10.1038/labinvest.3700237 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15654359  }} </ref><ref name="pmid10570430">{{cite journal| author=Merchant NB, Lewis JJ, Woodruff JM, Leung DH, Brennan MF| title=Extremity and trunk desmoid tumors: a multifactorial analysis of outcome. | journal=Cancer | year= 1999 | volume= 86 | issue= 10 | pages= 2045-52 | pmid=10570430 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10570430  }} </ref><ref name="pmid26998061">{{cite journal| author=Kim HS, Kim J, Nam KH, Kim WH| title=Clinical significance of midkine expression in sporadic desmoid tumors. | journal=Oncol Lett | year= 2016 | volume= 11 | issue= 3 | pages= 1677-1684 | pmid=26998061 | doi=10.3892/ol.2016.4129 | pmc=4774436 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26998061  }} </ref><ref name="pmid17952864">{{cite journal| author=Kotiligam D, Lazar AJ, Pollock RE, Lev D| title=Desmoid tumor: a disease opportune for molecular insights. | journal=Histol Histopathol | year= 2008 | volume= 23 | issue= 1 | pages= 117-26 | pmid=17952864 | doi=10.14670/HH-23.117 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17952864  }} </ref><ref name="pmid26171757">{{cite journal| author=Crago AM, Chmielecki J, Rosenberg M, O'Connor R, Byrne C, Wilder FG et al.| title=Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis. | journal=Genes Chromosomes Cancer | year= 2015 | volume= 54 | issue= 10 | pages= 606-15 | pmid=26171757 | doi=10.1002/gcc.22272 | pmc=4548882 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26171757  }} </ref><ref name="pmid18832571">{{cite journal| author=Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo-Aranda E et al.| title=Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. | journal=Am J Pathol | year= 2008 | volume= 173 | issue= 5 | pages= 1518-27 | pmid=18832571 | doi=10.2353/ajpath.2008.080475 | pmc=2570141 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18832571  }} </ref><ref name="pmid23960186">{{cite journal| author=Mullen JT, DeLaney TF, Rosenberg AE, Le L, Iafrate AJ, Kobayashi W et al.| title=β-Catenin mutation status and outcomes in sporadic desmoid tumors. | journal=Oncologist | year= 2013 | volume= 18 | issue= 9 | pages= 1043-9 | pmid=23960186 | doi=10.1634/theoncologist.2012-0449 | pmc=3780636 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23960186  }} </ref><ref name="pmid9736021" /><ref name="pmid11241320">{{cite journal| author=Bertario L, Russo A, Sala P, Eboli M, Giarola M, D'amico F et al.| title=Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. | journal=Int J Cancer | year= 2001 | volume= 95 | issue= 2 | pages= 102-7 | pmid=11241320 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11241320  }} </ref><ref name="pmid23334997">{{cite journal| author=Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M| title=Desmoid tumour biology in patients with familial adenomatous polyposis coli. | journal=Br J Surg | year= 2013 | volume= 100 | issue= 5 | pages= 694-703 | pmid=23334997 | doi=10.1002/bjs.9053 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23334997  }} </ref><ref name="pmid17064931">{{cite journal| author=Nieuwenhuis MH, Vasen HF| title=Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature. | journal=Crit Rev Oncol Hematol | year= 2007 | volume= 61 | issue= 2 | pages= 153-61 | pmid=17064931 | doi=10.1016/j.critrevonc.2006.07.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17064931  }} </ref><ref name="pmid20528895">{{cite journal| author=Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK| title=Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis. | journal=Colorectal Dis | year= 2011 | volume= 13 | issue= 11 | pages= 1222-9 | pmid=20528895 | doi=10.1111/j.1463-1318.2010.02345.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20528895  }} </ref><ref name="pmid7795585">{{cite journal| author=Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T et al.| title=Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. | journal=Hum Mol Genet | year= 1995 | volume= 4 | issue= 3 | pages= 337-40 | pmid=7795585 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7795585  }} </ref><ref name="pmid12721244">{{cite journal| author=Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P et al.| title=Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. | journal=J Clin Oncol | year= 2003 | volume= 21 | issue= 9 | pages= 1698-707 | pmid=12721244 | doi=10.1200/JCO.2003.09.118 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12721244  }} </ref><ref name="pmid11247896">{{cite journal| author=Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M et al.| title=Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. | journal=Gut | year= 2001 | volume= 48 | issue= 4 | pages= 515-21 | pmid=11247896 | doi= | pmc=1728231 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11247896  }} </ref><ref name="pmid9950360">{{cite journal| author=Wallis YL, Morton DG, McKeown CM, Macdonald F| title=Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. | journal=J Med Genet | year= 1999 | volume= 36 | issue= 1 | pages= 14-20 | pmid=9950360 | doi= | pmc=1762945 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9950360  }} </ref><ref name="pmid25751801">{{cite journal| author=Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M| title=Desmoids and genotype in familial adenomatous polyposis. | journal=Dis Colon Rectum | year= 2015 | volume= 58 | issue= 4 | pages= 444-8 | pmid=25751801 | doi=10.1097/DCR.0000000000000316 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25751801  }} </ref><ref name="pmid9744495" /><ref name="pmid10077730">{{cite journal| author=Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA et al.| title=Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. | journal=Hum Hered | year= 1999 | volume= 49 | issue= 2 | pages= 97-102 | pmid=10077730 | doi=10.1159/000022852 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10077730  }} </ref><ref name="pmid7889507">{{cite journal| author=Fletcher JA, Naeem R, Xiao S, Corson JM| title=Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence. | journal=Cancer Genet Cytogenet | year= 1995 | volume= 79 | issue= 2 | pages= 139-43 | pmid=7889507 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7889507  }} </ref><ref name="pmid9363449">{{cite journal| author=Kouho H, Aoki T, Hisaoka M, Hashimoto H| title=Clinicopathological and interphase cytogenetic analysis of desmoid tumours. | journal=Histopathology | year= 1997 | volume= 31 | issue= 4 | pages= 336-41 | pmid=9363449 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9363449  }} </ref><ref name="pmid10079250">{{cite journal| author=Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, Spanier S et al.| title=Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. | journal=Am J Pathol | year= 1999 | volume= 154 | issue= 3 | pages= 729-33 | pmid=10079250 | doi=10.1016/S0002-9440(10)65319-9 | pmc=1866419 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10079250  }} </ref><ref name="pmid8976373">{{cite journal| author=Qi H, Dal Cin P, Hernández JM, Garcia JL, Sciot R, Fletcher C et al.| title=Trisomies 8 and 20 in desmoid tumors. | journal=Cancer Genet Cytogenet | year= 1996 | volume= 92 | issue= 2 | pages= 147-9 | pmid=8976373 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8976373  }} </ref><ref name="pmid7591262">{{cite journal| author=Mertens F, Willén H, Rydholm A, Brosjö O, Carlén B, Mitelman F et al.| title=Trisomy 20 is a primary chromosome aberration in desmoid tumors. | journal=Int J Cancer | year= 1995 | volume= 63 | issue= 4 | pages= 527-9 | pmid=7591262 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7591262  }} </ref>
 
{| class="wikitable"
 
|+
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Type of desmoid
! style="background:#4479BA; color: #FFFFFF;" align="center" + |Associated mutations
! style="background:#4479BA; color: #FFFFFF;" align="center" + |
|-
| style="background:#DCDCDC;" align="center" + |'''Sporadic desmoids'''
|Occur due to [[somatic mutation]] in one [[Gene copy number|copy]] of any of the following [[genes]]:
* [[Wnt signaling pathway|Wnt/beta-catenin signaling pathway]]
* [[Mutations]] in CTNNB1 [[Beta-catenin|(Beta-catenin gene)]] (85%) at following three particular sites:<ref name="pmid18832571">{{cite journal| author=Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo-Aranda E et al.| title=Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. | journal=Am J Pathol | year= 2008 | volume= 173 | issue= 5 | pages= 1518-27 | pmid=18832571 | doi=10.2353/ajpath.2008.080475 | pmc=2570141 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18832571  }} </ref><ref name="pmid23960186">{{cite journal| author=Mullen JT, DeLaney TF, Rosenberg AE, Le L, Iafrate AJ, Kobayashi W et al.| title=β-Catenin mutation status and outcomes in sporadic desmoid tumors. | journal=Oncologist | year= 2013 | volume= 18 | issue= 9 | pages= 1043-9 | pmid=23960186 | doi=10.1634/theoncologist.2012-0449 | pmc=3780636 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23960186  }} </ref>
**T41A (59%)
**S45F (33%)(associated with a higher recurrence rate after [[surgical resection]] of a primary [[desmoid tumor]])
**S45P (8%)
* [[APC gene]] [[mutations]] (10-15%)
* Other sporadic [[tumors]] (including [[benign]] [[fibrous]] [[bone]] [[lesions]] arising in both [[soft tissue]] and [[bone tumors]]) such as:
**[[Dupuytren's contracture]]
**[[Plantar]] [[fibrosis]]
**[[Peyronie's disease]]
**[[Carpal tunnel syndrome]]
**Infantile [[fibrosarcoma]]
**[[Fibrous dysplasia]]
* [[Trisomy 8]] (frequent finding in [[Hematologic malignancy|hematologic malignancies]])
* [[Trisomy]] 20
| rowspan="2" |'''Adults'''
|-
| style="background:#DCDCDC;" align="center" + |'''Familial desmoids/Hereditary desmoid [[disease]]'''


|Associated with [[FAP]] which has [[inherited]] [[mutation]] in one [[Gene copy number|copy]] of [[APC gene]]
* [[FAP]]+ [[Desmoid tumor|desmoids]]=[[germline mutation]] in second [[Gene copy number|copy]] of [[APC gene|APC genes]]
|-
| style="background:#DCDCDC;" align="center" + |'''[[Pediatric]] desmoids'''<ref name="pmid27062580">{{cite journal| author=Meazza C, Belfiore A, Busico A, Settanni G, Paielli N, Cesana L et al.| title=AKT1 and BRAF mutations in pediatric aggressive fibromatosis. | journal=Cancer Med | year= 2016 | volume= 5 | issue= 6 | pages= 1204-13 | pmid=27062580 | doi=10.1002/cam4.669 | pmc=4924379 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27062580  }} </ref>


|In addition to CTNNB1 [[mutation]], [[pediatric]] [[Desmoid tumor|desmoids]] have following [[mutations]] too:
*[[AKT1 gene|AKT1 E17K]] [[mutation]] (31%)
*[[BRAF (gene)|BRAF V600E]] [[mutation]] (19%)
*[[TP53|TP53 R273H]] [[mutation]] (9%)
|'''[[Children]]'''
|}


==Reference==
==Reference==
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{{WikiDoc Sources}}
[[Category:Disease]]
[[Category:Disease]]
[[Category:Up-To-Date]]
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Latest revision as of 14:38, 16 May 2019

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Case #1

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sara Mohsin, M.D.[2]

Overview

The exact etiology of desmoid tumors is unknown. However, Wnt/beta-catenin signaling pathway, APC mutations, CTNNB1 (beta-catenin) gene mutations, sporadic tumors and trisomy 8 and trisomy 20 seem to play a role in development of sporadic desmoids in adults. Familial desmoids in FAP patients are associated with germline APC mutations. Pediatric desmoids have AKT1 E17K, BRAF V600E and TP53 R273H mutations in addition to CTNNB1 mutations.

Causes

Type of desmoid Associated mutations
Sporadic desmoids Occur due to somatic mutation in one copy of any of the following genes: Adults
Familial desmoids/Hereditary desmoid disease Associated with FAP which has inherited mutation in one copy of APC gene
Pediatric desmoids[36] In addition to CTNNB1 mutation, pediatric desmoids have following mutations too: Children

Reference

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  2. ↑ Middleton SB, Frayling IM, Phillips RK (2000). "Desmoids in familial adenomatous polyposis are monoclonal proliferations". Br J Cancer. 82 (4): 827–32. doi:10.1054/bjoc.1999.1007. PMC 2374411. PMID 10732754.
  3. ↑ 3.0 3.1 Li C, Bapat B, Alman BA (1998). "Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor)". Am J Pathol. 153 (3): 709–14. PMC 1853030. PMID 9736021.
  4. ↑ Escobar C, Munker R, Thomas JO, Li BD, Burton GV (2012). "Update on desmoid tumors". Ann Oncol. 23 (3): 562–9. doi:10.1093/annonc/mdr386. PMID 21859899.
  5. ↑ 5.0 5.1 Giarola M, Wells D, Mondini P, Pilotti S, Sala P, Azzarelli A; et al. (1998). "Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours". Br J Cancer. 78 (5): 582–7. PMC 2063069. PMID 9744495.
  6. ↑ Barker N (2008). "The canonical Wnt/beta-catenin signalling pathway". Methods Mol Biol. 468: 5–15. doi:10.1007/978-1-59745-249-6_1. PMID 19099242.
  7. ↑ Lazar AJ, Hajibashi S, Lev D (2009). "Desmoid tumor: from surgical extirpation to molecular dissection". Curr Opin Oncol. 21 (4): 352–9. doi:10.1097/CCO.0b013e32832c9502. PMID 19436199.
  8. ↑ Aitken SJ, Presneau N, Kalimuthu S, Dileo P, Berisha F, Tirabosco R; et al. (2015). "Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses". Virchows Arch. 467 (2): 203–10. doi:10.1007/s00428-015-1765-0. PMID 25838078.
  9. ↑ Tejpar S, Nollet F, Li C, Wunder JS, Michils G, dal Cin P; et al. (1999). "Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor)". Oncogene. 18 (47): 6615–20. doi:10.1038/sj.onc.1203041. PMID 10597266.
  10. ↑ Heinrich MC, McArthur GA, Demetri GD, Joensuu H, Bono P, Herrmann R; et al. (2006). "Clinical and molecular studies of the effect of imatinib on advanced aggressive fibromatosis (desmoid tumor)". J Clin Oncol. 24 (7): 1195–203. doi:10.1200/JCO.2005.04.0717. PMID 16505440.
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  12. ↑ Abraham SC, Reynolds C, Lee JH, Montgomery EA, Baisden BL, Krasinskas AM; et al. (2002). "Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway". Hum Pathol. 33 (1): 39–46. PMID 11823972.
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  16. ↑ Kim HS, Kim J, Nam KH, Kim WH (2016). "Clinical significance of midkine expression in sporadic desmoid tumors". Oncol Lett. 11 (3): 1677–1684. doi:10.3892/ol.2016.4129. PMC 4774436. PMID 26998061.
  17. ↑ Kotiligam D, Lazar AJ, Pollock RE, Lev D (2008). "Desmoid tumor: a disease opportune for molecular insights". Histol Histopathol. 23 (1): 117–26. doi:10.14670/HH-23.117. PMID 17952864.
  18. ↑ Crago AM, Chmielecki J, Rosenberg M, O'Connor R, Byrne C, Wilder FG; et al. (2015). "Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis". Genes Chromosomes Cancer. 54 (10): 606–15. doi:10.1002/gcc.22272. PMC 4548882. PMID 26171757.
  19. ↑ 19.0 19.1 Lazar AJ, Tuvin D, Hajibashi S, Habeeb S, Bolshakov S, Mayordomo-Aranda E; et al. (2008). "Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors". Am J Pathol. 173 (5): 1518–27. doi:10.2353/ajpath.2008.080475. PMC 2570141. PMID 18832571.
  20. ↑ 20.0 20.1 Mullen JT, DeLaney TF, Rosenberg AE, Le L, Iafrate AJ, Kobayashi W; et al. (2013). "β-Catenin mutation status and outcomes in sporadic desmoid tumors". Oncologist. 18 (9): 1043–9. doi:10.1634/theoncologist.2012-0449. PMC 3780636. PMID 23960186.
  21. ↑ Bertario L, Russo A, Sala P, Eboli M, Giarola M, D'amico F; et al. (2001). "Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis". Int J Cancer. 95 (2): 102–7. PMID 11241320.
  22. ↑ Schiessling S, Kihm M, Ganschow P, Kadmon G, Büchler MW, Kadmon M (2013). "Desmoid tumour biology in patients with familial adenomatous polyposis coli". Br J Surg. 100 (5): 694–703. doi:10.1002/bjs.9053. PMID 23334997.
  23. ↑ Nieuwenhuis MH, Vasen HF (2007). "Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature". Crit Rev Oncol Hematol. 61 (2): 153–61. doi:10.1016/j.critrevonc.2006.07.004. PMID 17064931.
  24. ↑ Sinha A, Tekkis PP, Gibbons DC, Phillips RK, Clark SK (2011). "Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis". Colorectal Dis. 13 (11): 1222–9. doi:10.1111/j.1463-1318.2010.02345.x. PMID 20528895.
  25. ↑ Caspari R, Olschwang S, Friedl W, Mandl M, Boisson C, Böker T; et al. (1995). "Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444". Hum Mol Genet. 4 (3): 337–40. PMID 7795585.
  26. ↑ Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P; et al. (2003). "Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis". J Clin Oncol. 21 (9): 1698–707. doi:10.1200/JCO.2003.09.118. PMID 12721244.
  27. ↑ Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M; et al. (2001). "Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families". Gut. 48 (4): 515–21. PMC 1728231. PMID 11247896.
  28. ↑ Wallis YL, Morton DG, McKeown CM, Macdonald F (1999). "Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition". J Med Genet. 36 (1): 14–20. PMC 1762945. PMID 9950360.
  29. ↑ Church J, Xhaja X, LaGuardia L, O'Malley M, Burke C, Kalady M (2015). "Desmoids and genotype in familial adenomatous polyposis". Dis Colon Rectum. 58 (4): 444–8. doi:10.1097/DCR.0000000000000316. PMID 25751801.
  30. ↑ Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA; et al. (1999). "Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene". Hum Hered. 49 (2): 97–102. doi:10.1159/000022852. PMID 10077730.
  31. ↑ 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 (2): 139–43. PMID 7889507.
  32. ↑ Kouho H, Aoki T, Hisaoka M, Hashimoto H (1997). "Clinicopathological and interphase cytogenetic analysis of desmoid tumours". Histopathology. 31 (4): 336–41. PMID 9363449.
  33. ↑ Bridge JA, Swarts SJ, Buresh C, Nelson M, Degenhardt JM, Spanier S; 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 (3): 729–33. doi:10.1016/S0002-9440(10)65319-9. PMC 1866419. PMID 10079250.
  34. ↑ Qi H, Dal Cin P, Hernández JM, Garcia JL, Sciot R, Fletcher C; et al. (1996). "Trisomies 8 and 20 in desmoid tumors". Cancer Genet Cytogenet. 92 (2): 147–9. PMID 8976373.
  35. ↑ Mertens F, Willén H, Rydholm A, Brosjö O, Carlén B, Mitelman F; et al. (1995). "Trisomy 20 is a primary chromosome aberration in desmoid tumors". Int J Cancer. 63 (4): 527–9. PMID 7591262.
  36. ↑ Meazza C, Belfiore A, Busico A, Settanni G, Paielli N, Cesana L; et al. (2016). "AKT1 and BRAF mutations in pediatric aggressive fibromatosis". Cancer Med. 5 (6): 1204–13. doi:10.1002/cam4.669. PMC 4924379. PMID 27062580.

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