FHACT: the FISH-based HPV-associated cancer test that detects nonrandom gain at four genomic loci as biomarkers of disease progression

References

• zur Hausen H. Papillomaviruses and cancer: from basic studies to clinical application. Nature reviews. Cancer 2002;2(5):342-50
   Google Scholar
• Moscicki AB, Schiffman M, Burchell A, et al. Updating the natural history of human papillomavirus and anogenital cancers. Vaccine 2012;30(Suppl 5):F24-33
   Google Scholar
• Wittekindt C, Wagner S, Mayer CS, Klussmann JP. Basics of tumor development and importance of human papilloma virus (HPV) for head and neck cancer. GMS Curr Topics Otorhinolaryngol Head Neck Surg 2012;11:Doc09
   Google Scholar
• Cobos C, Figueroa JA, Mirandola L, et al. The role of human papilloma virus (HPV) infection in non-anogenital cancer and the promise of immunotherapy: a review. Int Rev Immunol 2014. [Epub ahead of print]
   Google Scholar
• Khoury JD, Tannir NM, Williams MD, et al. Landscape of DNA virus associations across human malignant cancers: analysis of 3,775 cases using RNA-Seq. J Virol 2013;87(16):8916-26
   Web of Science ®Google Scholar
• de Villiers EM, Fauquet C, Broker TR, et al. Classification of papillomaviruses. Virology 2004;324(1):17-27
   PubMed Web of Science ®Google Scholar
• Moody CA, Laimins LA. Human papillomavirus oncoproteins: pathways to transformation. Nat Rev Cancer 2010;10(8):550-60
   PubMed Web of Science ®Google Scholar
• Huang LW, Chao SL, Lee BH. Integration of human papillomavirus type-16 and type-18 is a very early event in cervical carcinogenesis. J Clin Pathol 2008;61(5):627-31
   Google Scholar
• Hanahan D, Weinberg RA. The hallmarks of cancer. Cell 2000;100(1):57-70
   PubMed Web of Science ®Google Scholar
• Luhn P, Wentzensen N. HPV-based tests for cervical cancer screening and management of cervical disease. Curr Obstetr Gynecol Rep 2013;2(2):76-85
   Google Scholar
• Massad LS, Einstein MH, Huh WK, et al. 2012 updated consensus guidelines for the management of abnormal cervical cancer screening tests and cancer precursors. Obstetr Gynecol 2013;121(4):829-46
   PubMed Web of Science ®Google Scholar
• Chase DM, Kalouyan M, DiSaia PJ. Colposcopy to evaluate abnormal cervical cytology in 2008. Am J Obstetr Gynecol 2009;200(5):472-80
   PubMed Web of Science ®Google Scholar
• WHO. WHO guidelines for screening and treatment of precancerous lesions for cervical cancer prevention. WHO; Geneva, Switzerland: 2013
   Google Scholar
• Stanley M. Pathology and epidemiology of HPV infection in females. Gynecol Oncol 2010;117(2 Suppl):S5-10
   PubMed Web of Science ®Google Scholar
• Wright TC Jr, Stoler MH, Behrens CM, et al. Interlaboratory variation in the performance of liquid-based cytology: insights from the ATHENA trial. Int J Cancer 2014;134(8):1835-43
   Google Scholar
• Saslow D, Solomon D, Lawson HW, et al. American Cancer Society, American Society for Colposcopy and Cervical Pathology, and American Society for Clinical Pathology screening guidelines for the prevention and early detection of cervical cancer. Am J Clin Pathol 2012;137(4):516-42
   PubMed Web of Science ®Google Scholar
• Solomon D, Stoler M, Jeronimo J, et al. Diagnostic utility of endocervical curettage in women undergoing colposcopy for equivocal or low-grade cytologic abnormalities. Obstetr Gynecol 2007;110(2 Pt 1):288-95
   PubMed Web of Science ®Google Scholar
• Stoler MH, Wright TC Jr, Sharma A, et al. High-risk human papillomavirus testing in women with ASC-US cytology: results from the ATHENA HPV study. Am J Clin Pathol 2011;135(3):468-75
   PubMed Web of Science ®Google Scholar
• De Marchi Triglia R, Metze K, Zeferino LC, Lucci De Angelo Andrade LA. HPV in situ hybridization signal patterns as a marker for cervical intraepithelial neoplasia progression. Gynecol Oncol 2009;112(1):114-18
   Google Scholar
• Stoler MH, Wright TC Jr, Cuzick J, et al. APTIMA HPV assay performance in women with atypical squamous cells of undetermined significance cytology results. Am J Obstetr Gynecol 2013;208(2):144 e141-148
   Google Scholar
• Ratnam S, Coutlee F, Fontaine D, et al. Aptima HPV E6/E7 mRNA test is as sensitive as Hybrid Capture 2 Assay but more specific at detecting cervical precancer and cancer. J Clin Microbiol 2011;49(2):557-64
   Google Scholar
• Bergeron C, Ronco G, Reuschenbach M, et al. The clinical impact of using p16 immunochemistry in cervical histopathology and cytology: an update of recent developments. Int J Cancer 2014; doi; 10.1002/ijc.28900. [Epub ahead of print]
   Google Scholar
• Denton KJ, Bergeron C, Klement P, et al. The sensitivity and specificity of p16(INK4a) cytology vs HPV testing for detecting high-grade cervical disease in the triage of ASC-US and LSIL pap cytology results. Int J Cancer 2010;134(1):12-21
   Google Scholar
• Szarewski A, Mesher D, Cadman L, et al. Comparison of seven tests for high-grade cervical intraepithelial neoplasia in women with abnormal smears: the Predictors 2 study. J Clin Microbiol 2012;50(6):1867-73
   PubMedGoogle Scholar
• Ordi J, Sagasta A, Munmany M, et al. Usefulness of p16/Ki67 immunostaining in the triage of women referred to colposcopy. Cancer Cytopathol 2014;122(3):227-35
   Google Scholar
• Schmidt D, Bergeron C, Denton KJ. Ridder R. p16/ki-67 dual-stain cytology in the triage of ASCUS and LSIL papanicolaou cytology: results from the European equivocal or mildly abnormal Papanicolaou cytology study. Cancer Cytopathol 2011;119(3):158-66
   PubMed Web of Science ®Google Scholar
• Waldstrom M, Christensen RK, Ornskov D. Evaluation of p16(INK4a)/Ki-67 dual stain in comparison with an mRNA human papillomavirus test on liquid-based cytology samples with low-grade squamous intraepithelial lesion. Cancer Cytopathol 2013;121(3):136-45
   PubMed Web of Science ®Google Scholar
• Wentzensen N, Schwartz L, Zuna RE, et al. Performance of p16/Ki-67 immunostaining to detect cervical cancer precursors in a colposcopy referral population. Clin Cancer Res 2012;18(15):4154-62
   PubMed Web of Science ®Google Scholar
• Marur S, Burtness B. Oropharyngeal squamous cell carcinoma treatment: current standards and future directions. Curr Opin Oncol 2014;26(3):252-8
   Google Scholar
• Wilson DD, Crandley EF, Sim A, et al. Prognostic significance of p16 and Its relationship with human papillomavirus in pharyngeal squamous cell carcinomas. JAMA Otolaryngol Head Neck Surg 2014;140(7):647-53
   Google Scholar
• Hansel A, Steinbach D, Greinke C, et al. A promising DNA methylation signature for the triage of high-risk human papillomavirus DNA-positive women. PLoS One 2014;9(3):e91905
   PubMed Web of Science ®Google Scholar
• Snellenberg S, De Strooper LM, Hesselink AT, et al. Development of a multiplex methylation-specific PCR as candidate triage test for women with an HPV-positive cervical scrape. BMC Cancer 2012;12:551
   PubMed Web of Science ®Google Scholar
• Wentzensen N, Sherman ME, Schiffman M, Wang SS. Utility of methylation markers in cervical cancer early detection: appraisal of the state-of-the-science. Gynecol Oncol 2009;112(2):293-9
   PubMed Web of Science ®Google Scholar
• Ojesina AI, Lichtenstein L, Freeman SS, et al. Landscape of genomic alterations in cervical carcinomas. Nature 2014;506(7488):371-5
   PubMed Web of Science ®Google Scholar
• Alves G, Heller A, Fiedler W, et al. Genetic imbalances in 26 cases of penile squamous cell carcinoma. Genes Chromosomes Cancer 2001;31(1):48-53
   Google Scholar
• Thomas LK, Bermejo JL, Vinokurova S, et al. Chromosomal gains and losses in human papillomavirus-associated neoplasia of the lower genital tract - a systematic review and meta-analysis. Eur J Cancer 2014;50(1):85-98
   PubMed Web of Science ®Google Scholar
• Lechner M, Frampton GM, Fenton T, et al. Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors. Genome Med 2013;5(5):49
   PubMedGoogle Scholar
• Klussmann JP, Mooren JJ, Lehnen M, et al. Genetic signatures of HPV-related and unrelated oropharyngeal carcinoma and their prognostic implications. Clin Cancer Res 2009;15(5):1779-86
   PubMed Web of Science ®Google Scholar
• van den Tillaart SA, Corver WE, Ruano Neto D, et al. Loss of heterozygosity and copy number alterations in flow-sorted bulky cervical cancer. PLoS One 2013;8(7):e67414
   Google Scholar
• The Cancer Genome Atlas. Available from: http://cancergenome.nih.gov
   Google Scholar
• Heselmeyer K, Schrock E, du Manoir S, et al. Gain of chromosome 3q defines the transition from severe dysplasia to invasive carcinoma of the uterine cervix. Proc Natl Acad Sci USA 1996;93(1):479-84
   PubMedGoogle Scholar
• Mine KL, Shulzhenko N, Yambartsev A, et al. Gene network reconstruction reveals cell cycle and antiviral genes as major drivers of cervical cancer. Nat Commun 2013;4:1806
   PubMed Web of Science ®Google Scholar
• Heselmeyer-Haddad K, Janz V, Castle PE, et al. Detection of genomic amplification of the human telomerase gene (TERC) in cytologic specimens as a genetic test for the diagnosis of cervical dysplasia. Am J Pathol 2003;163(4):1405-16
   PubMed Web of Science ®Google Scholar
• Haga T, Kim SH, Jensen RH, et al. Detection of genetic changes in anal intraepithelial neoplasia (AIN) of HIV-positive and HIV-negative men. J Acquir Immune Defic Syndr 2001;26(3):256-62
   Google Scholar
• Gagne SE, Jensen R, Polvi A, et al. High-resolution analysis of genomic alterations and human papillomavirus integration in anal intraepithelial neoplasia. J Acquir Immune Defic Syndr 2005;40(2):182-9
   Google Scholar
• Masferrer E, Ferrandiz-Pulido C, Lloveras B, et al. MYC copy number gains are associated with poor outcome in penile squamous cell carcinoma. J Urol 2012;188(5):1965-71
   Google Scholar
• Gunia S, Erbersdobler A, Hakenberg OW, et al. C-MET is expressed in the majority of penile squamous cell carcinomas and correlates with polysomy-7 but is not associated with MET oncogene amplification, pertinent histopathologic parameters, or with cancer-specific survival. Pathol Res Pract 2013;209(4):215-20
   PubMed Web of Science ®Google Scholar
• Micci F, Panagopoulos I, Haugom L, et al. Genomic aberration patterns and expression profiles of squamous cell carcinomas of the vulva. Genes Chromosomes Cancer 2013;52(6):551-63
   Google Scholar
• Purdie KJ, Harwood CA, Gibbon K, et al. High-resolution genomic profiling of human papillomavirus-associated vulval neoplasia. Br J Cancer 2010;102(6):1044-51
   Google Scholar
• Andersson S, Sowjanya P, Wangsa D, et al. Detection of genomic amplification of the human telomerase gene TERC, a potential marker for triage of women with HPV-positive, abnormal Pap smears. Am J Pathol 2009;175(5):1831-47
   PubMed Web of Science ®Google Scholar
• Caraway NP, Khanna A, Dawlett M, et al. Gain of the 3q26 region in cervicovaginal liquid-based pap preparations is associated with squamous intraepithelial lesions and squamous cell carcinoma. Gynecol Oncol 2008;110(1):37-42
   PubMed Web of Science ®Google Scholar
• Chen S, Yang Z, Zhang Y, et al. Genomic amplification patterns of human telomerase RNA gene and C-MYC in liquid-based cytological specimens used for the detection of high-grade cervical intraepithelial neoplasia. Diagnos Pathol 2012;7:40
   Google Scholar
• Hopman AH, Theelen W, Hommelberg PP, et al. Genomic integration of oncogenic HPV and gain of the human telomerase gene TERC at 3q26 are strongly associated events in the progression of uterine cervical dysplasia to invasive cancer. J Pathol 2006;210(4):412-19
   PubMed Web of Science ®Google Scholar
• Jiang J, Wei LH, Li YL, et al. Detection of TERC amplification in cervical epithelial cells for the diagnosis of high-grade cervical lesions and invasive cancer: a multicenter study in China. J Mol Diagn 2010;12(6):808-17
   Web of Science ®Google Scholar
• Seppo A, Jalali GR, Babkowski R, et al. Gain of 3q26: a genetic marker in low-grade squamous intraepithelial lesions (LSIL) of the uterine cervix. Gynecol Oncol 2009;114(1):80-3
   Google Scholar
• Ramsaroop R, Oei P, Ng D, et al. Cervical intraepithelial neoplasia and aneusomy of TERC: assessment of liquid-based cytological preparations. Diagn Cytopathol 2009;37(6):411-15
   Google Scholar
• Sokolova I, Algeciras-Schimnich A, Song M, et al. Chromosomal biomarkers for detection of human papillomavirus associated genomic instability in epithelial cells of cervical cytology specimens. J Mol Diagn 2007;9(5):604-11
   Google Scholar
• Kokalj-Vokac N, Kodric T, Erjavec-Skerget A, et al. Screening of TERC gene amplification as an additional genetic diagnostic test in detection of cervical preneoplastic lesions. Cancer Genet Cytogenet 2009;195(1):19-22
   Google Scholar
• Scotto L, Narayan G, Nandula SV, et al. Identification of copy number gain and overexpressed genes on chromosome arm 20q by an integrative genomic approach in cervical cancer: potential role in progression. Genes Chromosomes Cancer 2008;7(9):755-65
   Google Scholar
• Scotto L, Narayan G, Nandula SV, et al. Integrative genomics analysis of chromosome 5p gain in cervical cancer reveals target over-expressed genes, including Drosha. Mol Cancer 2008;7:58
   PubMed Web of Science ®Google Scholar
• Voss JS, Kipp BR, Campion MB, et al. Assessment of fluorescence in situ hybridization and hybrid capture 2 analyses of cervical cytology specimens diagnosed as low grade squamous intraepithelial lesion for the detection of high grade cervical intraepithelial neoplasia. Anal Quant Cytol Histol 2010;32(3):121-30
   Google Scholar
• Heitmann ER, Lankachandra KM, Wall J, et al. 3q26 amplification is an effective negative triage test for LSIL: a historical prospective study. PLoS One 2012;7(7):e39101
   PubMed Web of Science ®Google Scholar
• Luhn P, Houldsworth J, Cahill L, et al. Chromosomal gains measured in cytology samples from women with abnormal cervical cancer screening results. Gynecol Oncol 2013;130(3):595-600
   Google Scholar
• Sui W, Ou M, Dai Y, et al. Gain of the human telomerase RNA gene TERC at 3q26 is strongly associated with cervical intraepithelial neoplasia and carcinoma. Int J Gynecol Cancer 2009;19:1303-6
   Google Scholar
• Costa C, Espinet B, Molina MA, et al. Analysis of gene status in cervical dysplastic lesions and squamous cell carcinoma using tissue microarrays. Histol Histopathol 2009;24(7):821-9
   Google Scholar
• Heselmeyer-Haddad K, Sommerfeld K, White NM, et al. Genomic amplification of the human telomerase gene (TERC) in pap smears predicts the development of cervical cancer. Am J Pathol 2005;166(4):1229-38
   PubMedGoogle Scholar
• Alameda F, Espinet B, Corzo C, et al. 3q26 (hTERC) gain studied by fluorescence in situ hybridization as a persistence-progression indicator in low-grade squamous intraepithelial lesion cases. Hum Pathol 2009;40(10):1474-8
   Google Scholar
• Rodolakis A, Biliatis I, Symiakaki H, et al. Role of chromosome 3q26 gain in predicting progression of cervical dysplasia. Int J Gynecol Cancer 2012;22(5):742-7
   PubMed Web of Science ®Google Scholar
• Policht FA, Song M, Sitailo S, et al. Analysis of genetic copy number changes in cervical disease progression. BMC Cancer 2010;10:432
   Google Scholar
• Wang X, Liu J, Xi H, Cai L. The significant diagnostic value of human telomerase RNA component (hTERC) gene detection in high-grade cervical lesions and invasive cancer. Tumour Biol 2014;35(7):6893-900
   Google Scholar
• Earley A, Lamont JL, Dahabreh IJ, et al. Fluorescence in situ hybridization testing for the diagnosis of high-grade cervical abnormalities: a systematic review. J Lower Genit Tract Dis 2014;18(3):218-27
   Google Scholar
• Wright TC Jr, Stoler MH, Sharma A, et al. Evaluation of HPV-16 and HPV-18 genotyping for the triage of women with high-risk HPV+ cytology-negative results. Am J Clin Pathol 2011;136(4):578-86
   PubMed Web of Science ®Google Scholar
• Castle PE, Stoler MH, Wright TC Jr, et al. Performance of carcinogenic human papillomavirus (HPV) testing and HPV16 or HPV18 genotyping for cervical cancer screening of women aged 25 years and older: a subanalysis of the ATHENA study. Lancet Oncol 2011;12(9):880-90
   PubMed Web of Science ®Google Scholar
• Botes LP, Pett S, Carr A, et al. Anal cytological abnormalities are poor predictors of high-grade intraepithelial neoplasia amongst HIV-positive men who have sex with men. Sex Health 2013;10(1):9-17
   Google Scholar
• Wentzensen N, Follansbee S, Borgonovo S, et al. Analytic and clinical performance of cobas HPV testing in anal specimens from HIV-positive men who have sex with men. J Clin Microbiol 2014;52(8):2892-7
   PubMed Web of Science ®Google Scholar