Cancer Risk in Patients With Fuchs Endothelial Corneal Dystrophy.
Journal
Cornea
ISSN: 1536-4798
Titre abrégé: Cornea
Pays: United States
ID NLM: 8216186
Informations de publication
Date de publication:
01 Sep 2022
01 Sep 2022
Historique:
received:
30
04
2021
accepted:
15
07
2021
pubmed:
20
5
2022
medline:
11
8
2022
entrez:
19
5
2022
Statut:
ppublish
Résumé
The purpose of this study is to quantify cancer risk in patients with Fuchs endothelial corneal dystrophy (FECD). Using the 2014 to 2016 Medicare Limited 5% Data Sets-Carrier Line File, US Medicare fee-for-service beneficiaries (aged 65 years or older) with FECD and cancer were identified through International Classification of Diseases , ninth and 10th Revision diagnostic codes from January 1, 2014, to December 31, 2016. The main outcome measures were odds ratios (ORs) of cancer at various anatomic locations in patients with versus without FECD. Of the 1,462,740 Medicare beneficiaries, 15,534 patients (1.1%) had an International Classification of Disease code for FECD. Compared with US Medicare beneficiaries without FECD, patients with FECD were at increased risk for the following malignancies: breast [OR: 1.32; 95% confidence interval (CI): 1.22-1.43; P < 0.001], cutaneous basal cell (OR: 1.42; 95% CI: 1.35-1.49; P < 0.001), cutaneous melanoma (OR: 1.20; 95% CI: 1.03-1.40; P = 0.02), cutaneous squamous cell (OR: 1.45; 95% CI: 1.38-1.53; P < 0.001), ovarian (OR: 1.84; 95% CI: 1.48-2.30; P < 0.001), and thyroid (OR: 1.32; 95% CI: 1.04-1.68; P = 0.02). By contrast, FECD cases were at lower odds of having lung (OR: 0.81; 95% CI: 0.71-0.93; P = 0.003) and prostate cancer diagnoses (OR: 0.88; 95% CI: 0.81-0.96; P = 0.002). Patients with FECD aged 65 years or older may be at increased risk for cancer at several anatomic locations. Follow-up studies are needed to further explore the association of FECD and malignancy, elucidate potential disease mechanisms, and identify genetic and/or environmental risk factors.
Identifiants
pubmed: 35588167
doi: 10.1097/ICO.0000000000002864
pii: 00003226-202209000-00004
pmc: PMC9120714
mid: NIHMS1725451
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1088-1093Subventions
Organisme : NEI NIH HHS
ID : R01 EY021727
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY026490
Pays : United States
Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
Références
Gain P, Jullienne R, He Z, et al. Global survey of corneal transplantation and eye banking. JAMA Ophthalmol. 2016;134:167–173.
Eye Bank Association of America. 2018 Eye Banking Statistical Report. Washington, DC: Eye Bank Association of America; 2019.
Wieben ED, Aleff RA, Tosakulwong N, et al. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. PLoS One. 2012;7:e49083.
Mootha VV, Gong X, Ku HC, et al. Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2014;55:33–42.
Xu TT, Li YJ, Afshari NA, et al. Disease expression and familial transmission of Fuchs endothelial corneal dystrophy with and without CTG18.1 expansion. Invest Ophthalmol Vis Sci. 2021;62:17.
Krachmer JH, Purcell JJ Jr, Young CW, et al. Corneal endothelial dystrophy. A study of 64 families. Arch Ophthalmol. 1978;96:2036–2039.
Gadalla SM, Lund M, Pfeiffer RM, et al. Cancer risk among patients with myotonic muscular dystrophy. JAMA. 2011;306:2480–2486.
Win AK, Perattur PG, Pulido JS, et al. Increased cancer risks in myotonic dystrophy. Mayo Clin Proc. 2012;87:130–135.
McNulty P, Pilcher R, Ramesh R, et al. Reduced cancer incidence in Huntington's disease: analysis in the registry study. J Huntingtons Dis. 2018;7:209–222.
Sund R, Pukkala E, Patja K. Cancer incidence among persons with fragile X syndrome in Finland: a population-based study. J Intellect Disabil Res. 2009;53:85–90.
Quan H, Li B, Couris CM, et al. Updating and validating the Charlson Comorbidity Index and score for risk adjustment in hospital discharge abstracts using data from 6 countries. Am J Epidemiol. 2011;173:676–682.
Murmann AE, Yu J, Opal P, et al. Trinucleotide repeat expansion diseases, RNAi, and cancer. Trends Cancer. 2018;4:684–700.
Ho TH, Savkur RS, Poulos MG, et al. Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci. 2005;118:2923–2933.
Miller JW, Urbinati CR, Teng-Umnuay P, et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 2000;19:4439–4448.
Du J, Aleff RA, Soragni E, et al. RNA toxicity and missplicing in the common eye disease Fuchs endothelial corneal dystrophy. J Biol Chem. 2015;290:5979–5990.
Mootha VV, Hussain I, Cunnusamy K, et al. TCF4 triplet repeat expansion and nuclear RNA foci in Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2015;56:2003–2011.
Machuca‐Tzili L, Brook D, Hilton‐Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve. 2005;32:1–18.
Sznajder ŁJ, Swanson MS. Short tandem repeat expansions and RNA-mediated pathogenesis in myotonic dystrophy. Int J Mol Sci. 2019;20:3365.
Lin X, Miller JW, Mankodi A, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet. 2006;15:2087–2097.
Thornton CA, Wymer JP, Simmons Z, et al. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet. 1997;16:407–409.
Panzer S, Kuhl DP, Caskey CT. Unstable triplet repeat sequences: a source of cancer mutations? Stem Cells. 1995;13:146–157.
Mueller CM, Hilbert JE, Martens W, et al. Hypothesis: neoplasms in myotonic dystrophy. Cancer Causes Control. 2009;20:2009–2020.
Lukong KE, Chang KW, Khandjian EW, et al. RNA-binding proteins in human genetic disease. Trends Genet. 2008;24:416–425.
Fernandez-Torron R, Garcia-Puga M, Emparanza JI, et al. Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation. Neurology. 2016;87:1250–1257.
Foja S, Luther M, Hoffmann K, et al. CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs' dystrophy. Graefes Arch Clin Exp Ophthalmol. 2017;255:1621–1631.
Okumura N, Hayashi R, Nakano M, et al. Effect of trinucleotide repeat expansion on the expression of TCF4 mRNA in Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2019;60:779–786.
Navarrete K, Pedroso I, De Jong S, et al. TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:1–16.
Sobrado VR, Moreno-Bueno G, Cubillo E, et al. The class I bHLH factors E2-2A and E2-2B regulate EMT. J Cell Sci. 2009;122:1014–1024.
Afshari NA, Igo RP Jr, Morris NJ, et al. Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat Commun. 2017;8:14898.
Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415–2423.
Gupta R, Kumawat BL, Paliwal P, et al. Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India. Mol Vis. 2015;21:1252–1260.
Kurahara H, Takao S, Maemura K, et al. Epithelial-mesenchymal transition and mesenchymal-epithelial transition via regulation of ZEB-1 and ZEB-2 expression in pancreatic cancer. J Surg Oncol. 2012;105:655–661.
Zhang X, Igo RP Jr, Fondran J, et al. Association of smoking and other risk factors with Fuchs' endothelial corneal dystrophy severity and corneal thickness. Invest Ophthalmol Vis Sci. 2013;54:5829–5835.
Kinariwala BB, Xu TT, Baratz KH, et al. Relationship of body mass index with Fuchs endothelial corneal dystrophy severity and TCF4 CTG18.1 trinucleotide repeat expansion. Cornea. 2021. doi: 10.1097/ICO.0000000000002689. [epub ahead of print].
doi: 10.1097/ICO.0000000000002689
Zoega GM, Fujisawa A, Sasaki H, et al. Prevalence and risk factors for cornea guttata in the Reykjavik Eye Study. Ophthalmology. 2006;113:565–569.
Liu C, Miyajima T, Melangath G, et al. Ultraviolet A light induces DNA damage and estrogen-DNA adducts in Fuchs endothelial corneal dystrophy causing females to be more affected. Proc Natl Acad Sci U S A. 2020;117:573–583.
de Gruijl FR, van Kranen HJ, Mullenders LHF. UV-induced DNA damage, repair, mutations and oncogenic pathways in skin cancer. J Photochem Photobiol B. 2001;63:19–27.
Eghrari AO, Gottsch JD. Fuchs' corneal dystrophy. Expert Rev Ophthalmol. 2010;5:147–159.
Gloster HM Jr, Neal K. Skin cancer in skin of color. J Am Acad Dermatol. 2006;55:741–760; quiz 61–64.
Stein JD, Lum F, Lee PP, et al. Use of health care claims data to study patients with ophthalmologic conditions. Ophthalmology. 2014;121:1134–1141.