Highly sensitive faecal DNA testing of TWIST1 methylation in combination with faecal immunochemical test for haemoglobin is a promising marker for detection of colorectal neoplasia

Annals of Clinical Biochemistry

Volumn 55, Issue 1, 2018, Pages 59-68

  Suehiro, Yutaka ^a   Zhang, Yibo ^a   Hashimoto, Shinichi ^a   Takami, Taro ^a   Higaki, Shingo ^b   Shindo, Yoshitaro ^a   Suzuki, Nobuaki ^a   Hazama, Shoichi ^a   Oka, Masaaki ^a   Nagano, Hiroaki ^a   Sakaida, Isao ^a   Yamasaki, Takahiro ^a  

^a YAMAGUCHI UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Sentohiru Hospital   (Japan)

Author keywords

Advanced adenoma; colorectal cancer; digital PCR; faecal DNA test; faecal immunochemical test; methylation; TWIST1

Indexed keywords

DNA; HEMOGLOBIN; TUMOR MARKER; TWIST RELATED PROTEIN 1; NUCLEAR PROTEIN; TWIST1 PROTEIN, HUMAN;

ADULT; ADVANCED CANCER; AGED; ARTICLE; CANCER DIAGNOSIS; CHROMOSOME 5; COLONOSCOPY; COLORECTAL ADENOMA; COLORECTAL CANCER; COMBINED RESTRICTION DIGITAL POLYMERASE CHAIN REACTION; CONTROLLED STUDY; DNA EXTRACTION; DNA METHYLATION ASSAY; DNA SEQUENCE; DNA TEMPLATE; DROPLET DIGITAL POLYMERASE CHAIN REACTION; FECES; FEMALE; HEMOGLOBIN BLOOD LEVEL; HUMAN; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; OCCULT BLOOD TEST; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; CASE CONTROL STUDY; COLORECTAL TUMOR; GENETICS; METABOLISM; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; BIOMARKERS, TUMOR; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; DNA; FECES; FEMALE; HEMOGLOBINS; HUMANS; MALE; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEAR PROTEINS; SENSITIVITY AND SPECIFICITY; TWIST-RELATED PROTEIN 1;

EID: 85043485074     PISSN: 00045632     EISSN: 17581001     Source Type: Journal    
DOI: 10.1177/0004563217691064     Document Type: Article

References (28)

1. Torre LA, Bray F, Siegel RL, Global cancer statistics, 2012. CA Cancer J Clin 2015; 65: 87–108.
2. Pawa N, Arulampalam T, Norton JD. Screening for colorectal cancer: established and emerging modalities. Nat Rev Gastroenterol Hepatol 2011; 8: 711–722.
3. Young GP, Symonds EL, Allison JE, Advances in fecal occult blood tests: the FIT revolution. Dig Dis Sci 2015; 60: 609–622.
4. Imperiale TF, Ransohoff DF, Itzkowitz SH, Multitarget stool DNA testing for colorectal-cancer screening. N Engl J Med 2014; 370: 1287–1297.
5. van Turenhout ST, Oort FA, Terhaar sive Droste JS, Hemorrhoids detected at colonoscopy: an infrequent cause of false-positive fecal immunochemical test results. Gastrointest Endosc 2012; 76: 136–143.
6. van Rossum LG, van Rijn AF, Laheij RJ, Random comparison of guaiac and immunochemical fecal occult blood tests for colorectal cancer in a screening population. Gastroenterology 2008; 135: 82–90.
7. Velez JP, Schwesinger WH, Stauffer J, Bidirectional endoscopy in patients with fecal occult blood. Surg Endosc 2002; 16: 117–120.
8. Luo X, Stock C, Burwinkel B, Identification and evaluation of plasma MicroRNAs for early detection of colorectal cancer. PLoS One 2013; 8: e62880–e62880.
9. Carmona FJ, Azuara D, Berenguer-Llergo A, DNA methylation biomarkers for noninvasive diagnosis of colorectal cancer. Cancer Prev Res (Phila) 2013; 6: 656–665.
10. Calistri D, Rengucci C, Bocchini R, Fecal multiple molecular tests to detect colorectal cancer in stool. Clin Gastroenterol Hepatol 2003; 1: 377–383.
11. Leung WK, To KF, Man EP, Detection of epigenetic changes in fecal DNA as a molecular screening test for colorectal cancer: a feasibility study. Clin Chem 2004; 50: 2179–2182.
12. Dong SM, Traverso G, Johnson C, Detecting colorectal cancer in stool with the use of multiple genetic targets. J Natl Cancer Inst 2001; 93: 858–865.
13. Leung WK, To KF, Man EP, Detection of hypermethylated DNA or cyclooxygenase-2 messenger RNA in fecal samples of patients with colorectal cancer or polyps. Am J Gastroenterol 2007; 102: 1070–1076.
14. Kalimutho M, Del Vecchio Blanco G, Cretella M, A simplified, non-invasive fecal-based DNA integrity assay and iFOBT for colorectal cancer detection. Int J Colorectal Dis 2011; 26: 583–592.
15. Ahlquist DA. Multi-target stool DNA test: a new high bar for noninvasive screening. Dig Dis Sci 2015; 60: 623–633.
16. Okada T, Suehiro Y, Ueno K, TWIST1 hypermethylation is observed frequently in colorectal tumors and its overexpression is associated with unfavorable outcomes in patients with colorectal cancer. Genes Chromosomes Cancer 2010; 49: 452–462.
17. Ratto C, Flamini G, Sofo L, Detection of oncogene mutation from neoplastic colonic cells exfoliated in feces. Dis Colon Rectum 1996; 39: 1238–1244.
18. Vogelstein B, Kinzler KW. Digital PCR. Proc Natl Acad Sci USA 1999; 96: 9236–9241.
19. Raizis AM, Schmitt F, Jost JP. A bisulfite method of 5-methylcytosine mapping that minimizes template degradation. Anal Biochem 1995; 226: 161–166.
20. Grunau C, Clark SJ, Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res 2001; 29: E65–E65.
21. Sobin LH, Gospodarowicz MK and Wittekind C (eds). TNM classification of malignant tumours. 7th ed. Oxford: Wiley-Blackwell, 2009
22. Mosen DM, Liles EG, Feldstein AC, Participant uptake of the fecal immunochemical test decreases with the two-sample regimen compared with one-sample FIT. Eur J Cancer Prev 2014; 23: 516–523.
23. Chiang T-H, Chuang S-L, Chen SL-S, Difference in performance of fecal immunochemical tests with the same hemoglobin cutoff concentration in a nationwide colorectal cancer screening program. Gastroenterology 2014; 147: 1317–1326.
24. Nygren AO, Dean J, Jensen TJ, Quantification of fetal DNA by use of methylation-based DNA discrimination. Clin Chem 2010; 56: 1627–1635.
25. Suehiro Y, Okada T, Shikamoto N, Germline copy number variations associated with breast cancer susceptibility in a Japanese population. Tumour Biol 2013; 34: 947–952.
26. Fantony JJ, Abern MR, Gopalakrishna A, Multi-institutional external validation of urinary TWIST1 and NID2 methylation as a diagnostic test for bladder cancer. Urol Oncol 2015; 33: 387 e381–e386.
27. Hindson BJ, Ness KD, Masquelier DA, High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 2011; 83: 8604–8610.
28. Ahlquist DA. Molecular detection of colorectal neoplasia. Gastroenterology 2010; 138: 2127–2139.