Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report

World Journal of Surgical Oncology

Volumn 7, Issue , 2009, Pages

  Valenzuela, Cristian D ^a   Moore, Harvey G ^a   Huang, William C ^a   Reich, Elsa W ^a   Yee, Herman ^a   Ostrer, Harry ^a   Pachter, H Leon ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CISPLATIN; PACLITAXEL; PROTEIN MLH1; PROTEIN MSH2; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PRIMER DNA; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; ARTICLE; ASCENDING COLON; BASE PAIRING; CANCER PATIENT; CANCER RISK; CASE REPORT; COLON ADENOCARCINOMA; COLORECTAL CARCINOMA; COMPUTER ASSISTED TOMOGRAPHY; EXON; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CORRELATION; GERM LINE; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; PHENOTYPE; STOP CODON; TUMOR VOLUME; URETER CARCINOMA; ADENOCARCINOMA; AGED; CHEMISTRY; COLON TUMOR; FEMALE; GENETICS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; MIDDLE AGED; MULTIPLE CANCER; MUTATION; PEDIGREE; URETER TUMOR;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA; ADULT; AGED; AGED, 80 AND OVER; COLONIC NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA PRIMERS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; NEOPLASMS, MULTIPLE PRIMARY; NUCLEAR PROTEINS; PEDIGREE; URETERAL NEOPLASMS;

EID: 73149099151     PISSN: None     EISSN: 14777819     Source Type: Journal    
DOI: 10.1186/1477-7819-7-94     Document Type: Article

References (26)

1. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Murray T, Thun MJ. Cancer statistics, 2008. CA Cancer J Clin 2008, 58:71-96. 10.3322/CA.2007.0010, 18287387.
2. Church J, Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Dis Colon Rectum 2003, 46:1001-1012. 10.1007/s10350-004-7273-y, 12907889.
3. Guillem JG, Moore HG. Hereditary colorectal cancer and polyposis syndromes. ACS Surgery: Principles and Practice. 2006 revised edition 2006, 562-572. New York: Web MD Professional Publishing, Souba WW, Fink MP, Jurkovich GJ.
4. Lynch HT, de la Chapelle A. Hereditary colorectal cancer. N Engl J Med 2003, 348:919-932. 10.1056/NEJMra012242, 12621137.
5. Woods MO, Williams P, Careen A, Edwards L, Bartlett S, McLaughlin JR, Younghusband HB. A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mut 2007, 28:669-673. 10.1002/humu.20502, 17347989.
6. InSiGHT: International Society for Gastrointestinal Hereditary Tumors, Mismatch Repair Mutation Database. , http://www.Insight-Group.org
7. MMR Gene Unclassified Variants Database. , http://www.mmruv.info
8. Kaz A, Kim YH, Dzieciatkowski S, Lynch H, Watson P, Kay Washington M, Lin L, Grady WM. Evidence for the role of aberrant DNA methylation in the pathogenesis of Lynch syndrome adenomas. Int J Cancer 2007, 120:1922-1929. 10.1002/ijc.22544, 17278092.
9. Southey MC, Jenkins MA, Mead L, Whitty J, Trivett M, Tesoriero AA, Smith LD, Jennings K, Grubb G, Royce SG, Walsh MD, Barker MA, Young JP, Jass JR, St John DJ, Macrae FA, Giles GG, Hopper JL. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 2005, 23:6524-6532. 10.1200/JCO.2005.04.671, 16116158.
10. Radtke F, Clevers H. Self-renewal and cancer of the gut: Two sides of a coin. Science 2005, 307:1904-1909. 10.1126/science.1104815, 15790842.
11. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomäki P, Mecklin JP, Järvinen HJ. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 1999, 81:214-218. 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L, 10188721.
12. Barrow E, Alduaij W, Robinson L, Shenton A, Clancy T, Lalloo F, Hill J, Evans DG. Colorectal cancer in HNPCC: Cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. Clin Genet 2008, 74:233-242. 10.1111/j.1399-0004.2008.01035.x, 18554281.
13. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 1999, 116:1453-1456. 10.1016/S0016-5085(99)70510-X, 10348829.
14. Sijmons RH, Kiemeney LA, Witjes JA, Vasen HF. Urinary tract cancer and hereditary nonpolyposis colorectal cancer: Risks and screening options. J Urol 1998, 160:466-470. 10.1016/S0022-5347(01)62926-4, 9679899.
15. Julié C, Trésallet C, Brouquet A, Vallot C, Zimmermann U, Mitry E, Radvanyi F, Rouleau E, Lidereau R, Coulet F, Olschwang S, Frébourg T, Rougier P, Nordlinger B, Laurent-Puig P, Penna C, Boileau C, Franc B, Muti C, Hofmann-Radvanyi H. Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): Revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol 2008, 103:2825-2835. 10.1111/j.1572-0241.2008.02084.x, 18759827.
16. Levin B, Lieberman DA, McFarland B, Andrews KS, Brooks D, Bond J, Dash C, Giardiello FM, Glick S, Johnson D, Johnson CD, Levin TR, Pickhardt PJ, Rex DK, Smith RA, Thorson A, Winawer SJ, . American Cancer Society Colorectal Cancer Advisory Group US Multi-Society Task Force; American College of Radiology Colon Cancer Committee Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: A joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology. Gastroenterology 2008, 134:1570-1595. 10.1053/j.gastro.2008.02.002, 18384785.
17. Katballe N, Juul S, Christensen M, Ørntoft TF, Wikman FP, Laurberg S. Patient accuracy of reporting on hereditary non-polyposis colorectal cancer-related malignancy in family members. Br J Surg 2001, 88:1228-1233. 10.1046/j.0007-1323.2001.01868.x, 11531872.
18. Gylling AH, Nieminen TT, Abdel-Rahman WM, Nuorva K, Juhola M, Joensuu EI, Järvinen HJ, Mecklin JP, Aarnio M, Peltomäki PT. Differential cancer predisposition in Lynch syndrome: Insights from molecular analysis of brain and urinary tract tumors. Carcinogenesis 2008, 29:1351-1359. 10.1093/carcin/bgn133, 18550572.
19. Vasen HF, Stormorken A, Menko FH, Nagengast FM, Kleibeuker JH, Griffioen G, Taal BG, Moller P, Wijnen JT. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: A study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 2001, 19:4074-4080.
20. Geary J, Sasieni P, Houlston R, Izatt L, Eeles R, Payne SJ, Fisher S, Hodgson SV. Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC). Fam Cancer 2008, 7:163-172. 10.1007/s10689-007-9164-6, 17939062.
21. Myrhoj T, Andersen MB, Bernstein I. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Fam Cancer 2008, 7:303-307. 10.1007/s10689-008-9193-9, 18389386.
22. Hartmann A, Dietmaier W, Hofstadter F, Burgart LJ, Cheville JC, Blaszyk H. Urothelial carcinoma of the upper urinary tract: Inverted growth pattern is predictive of microsatellite instability. Hum Pathol 2003, 34:222-227. 10.1053/hupa.2003.22, 12673555.
23. Hartmann A, Zanardo L, Bocker-Edmonston T, Blaszyk H, Dietmaier W, Stoehr R, Cheville JC, Junker K, Wieland W, Knuechel R, Rueschoff J, Hofstaedter F, Fishel R. Frequent microsatellite instability in sporadic tumors of the upper urinary tract. Cancer Res 2002, 62:6796-6802.
24. Catto JW, Azzouzi AR, Amira N, Rehman I, Feeley KM, Cross SS, Fromont G, Sibony M, Hamdy FC, Cussenot O, Meuth M. Distinct patterns of microsatellite instability are seen in tumours of the urinary tract. Oncogene 2003, 22:8699-8706. 10.1038/sj.onc.1206964, 14647464.
25. Ericson KM, Isinger AP, Isfoss BL, Nilbert MC. Low frequency of defective mismatch repair in a population-based series of upper urothelial carcinoma. BMC Cancer 2005, 5:23. 10.1186/1471-2407-5-23, 555534, 15740628.
26. Tetu B. Diagnosis of urothelial carcinoma from urine. Mod Pathol 2009, 22(Suppl 2):53-59. 19494853, 10.1038/modpathol.2008.193.