메뉴 건너뛰기




Volumn 44, Issue 11, 2013, Pages 2518-2528

Lynch syndrome-associated colorectal carcinoma: Frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach

Author keywords

BRAF; Colorectal carcinoma; Lynch syndrome; MLH1; MSI; Screening

Indexed keywords

DNA; MISMATCH REPAIR PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH6;

EID: 84885634188     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2013.06.012     Document Type: Article
Times cited : (25)

References (35)
  • 1
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • H. Hampel, W.L. Frankel, and E. Martin Feasibility of screening for Lynch syndrome among patients with colorectal cancer J Clin Oncol 26 2008 5783 5788
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 2
    • 17944362664 scopus 로고    scopus 로고
    • Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    • H. Hampel, W.L. Frankel, and E. Martin Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer) N Engl J Med 352 2005 1851 1860
    • (2005) N Engl J Med , vol.352 , pp. 1851-1860
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 3
    • 17544369668 scopus 로고    scopus 로고
    • Progress in genetic testing, classification, and identification of Lynch syndrome
    • H.F. Vasen, and C.R. Boland Progress in genetic testing, classification, and identification of Lynch syndrome JAMA 293 2005 2028 2030
    • (2005) JAMA , vol.293 , pp. 2028-2030
    • Vasen, H.F.1    Boland, C.R.2
  • 4
    • 84860555035 scopus 로고    scopus 로고
    • Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
    • L. Perez-Carbonell, C. Ruiz-Ponte, and C. Guarinos Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer Gut 61 2012 865 872
    • (2012) Gut , vol.61 , pp. 865-872
    • Perez-Carbonell, L.1    Ruiz-Ponte, C.2    Guarinos, C.3
  • 5
    • 84867499525 scopus 로고    scopus 로고
    • Identification of Lynch syndrome among patients with colorectal cancer
    • L. Moreira, F. Balaguer, and N. Lindor Identification of Lynch syndrome among patients with colorectal cancer JAMA 308 2012 1555 1565
    • (2012) JAMA , vol.308 , pp. 1555-1565
    • Moreira, L.1    Balaguer, F.2    Lindor, N.3
  • 6
    • 84857242852 scopus 로고    scopus 로고
    • Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas: A report of the association for molecular pathology
    • W.K. Funkhouser Jr., I.M. Lubin, and F.A. Monzon Relevance, pathogenesis, and testing algorithm for mismatch repair-defective colorectal carcinomas: a report of the association for molecular pathology J Mol Diagn 14 2012 91 103
    • (2012) J Mol Diagn , vol.14 , pp. 91-103
    • Funkhouser, Jr.W.K.1    Lubin, I.M.2    Monzon, F.A.3
  • 7
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • A. Umar, C.R. Boland, and J.P. Terdiman Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability J Natl Cancer Inst 96 2004 261 268
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 8
    • 78650361869 scopus 로고    scopus 로고
    • A histology-based model for predicting microsatellite instability in colorectal cancers
    • A. Hyde, D. Fontaine, and S. Stuckless A histology-based model for predicting microsatellite instability in colorectal cancers Am J Surg Pathol 34 2010 1820 1829
    • (2010) Am J Surg Pathol , vol.34 , pp. 1820-1829
    • Hyde, A.1    Fontaine, D.2    Stuckless, S.3
  • 9
    • 34447251079 scopus 로고    scopus 로고
    • Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: A population-based study
    • M.A. Jenkins, S. Hayashi, and A.M. O'Shea Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study Gastroenterology 133 2007 48 56
    • (2007) Gastroenterology , vol.133 , pp. 48-56
    • Jenkins, M.A.1    Hayashi, S.2    O'Shea, A.M.3
  • 10
    • 77952681872 scopus 로고    scopus 로고
    • Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer
    • e1-7
    • C.R. Boland, and M. Shike Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer Gastroenterology 138 2010 2197 e1-7
    • (2010) Gastroenterology , vol.138 , pp. 2197
    • Boland, C.R.1    Shike, M.2
  • 11
    • 0035132202 scopus 로고    scopus 로고
    • Histopathological identification of colon cancer with microsatellite instability
    • J. Alexander, T. Watanabe, T.T. Wu, A. Rashid, S. Li, and S.R. Hamilton Histopathological identification of colon cancer with microsatellite instability Am J Pathol 158 2001 527 535
    • (2001) Am J Pathol , vol.158 , pp. 527-535
    • Alexander, J.1    Watanabe, T.2    Wu, T.T.3    Rashid, A.4    Li, S.5    Hamilton, S.R.6
  • 12
    • 0030465095 scopus 로고    scopus 로고
    • Microsatellite instability is associated with the histological features of the tumor in nonfamilial colorectal cancer
    • M. Risio, G. Reato, P.F. di Celle, M. Fizzotti, F.P. Rossini, and R. Foa Microsatellite instability is associated with the histological features of the tumor in nonfamilial colorectal cancer Cancer Res 56 1996 5470 5474
    • (1996) Cancer Res , vol.56 , pp. 5470-5474
    • Risio, M.1    Reato, G.2    Di Celle, P.F.3    Fizzotti, M.4    Rossini, F.P.5    Foa, R.6
  • 13
    • 0035875903 scopus 로고    scopus 로고
    • Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma
    • T.C. Smyrk, P. Watson, K. Kaul, and H.T. Lynch Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma Cancer 91 2001 2417 2422
    • (2001) Cancer , vol.91 , pp. 2417-2422
    • Smyrk, T.C.1    Watson, P.2    Kaul, K.3    Lynch, H.T.4
  • 14
    • 0142232032 scopus 로고    scopus 로고
    • Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer
    • J. Shia, N.A. Ellis, and P.B. Paty Value of histopathology in predicting microsatellite instability in hereditary nonpolyposis colorectal cancer and sporadic colorectal cancer Am J Surg Pathol 27 2003 1407 1417
    • (2003) Am J Surg Pathol , vol.27 , pp. 1407-1417
    • Shia, J.1    Ellis, N.A.2    Paty, P.B.3
  • 15
    • 0035185894 scopus 로고    scopus 로고
    • Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: Parallel pathways of tumorigenesis
    • J. Young, L.A. Simms, and K.G. Biden Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis Am J Pathol 159 2001 2107 2116
    • (2001) Am J Pathol , vol.159 , pp. 2107-2116
    • Young, J.1    Simms, L.A.2    Biden, K.G.3
  • 16
    • 0036224279 scopus 로고    scopus 로고
    • Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability
    • J.R. Jass, M.D. Walsh, M. Barker, L.A. Simms, J. Young, and B.A. Leggett Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability Eur J Cancer 38 2002 858 866
    • (2002) Eur J Cancer , vol.38 , pp. 858-866
    • Jass, J.R.1    Walsh, M.D.2    Barker, M.3    Simms, L.A.4    Young, J.5    Leggett, B.A.6
  • 17
    • 33745181120 scopus 로고    scopus 로고
    • Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite-stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter
    • M. Yearsley, H. Hampel, A. Lehman, H. Nakagawa, A. de la Chapelle, and W.L. Frankel Histologic features distinguish microsatellite-high from microsatellite-low and microsatellite-stable colorectal carcinomas, but do not differentiate germline mutations from methylation of the MLH1 promoter Hum Pathol 37 2006 831 838
    • (2006) Hum Pathol , vol.37 , pp. 831-838
    • Yearsley, M.1    Hampel, H.2    Lehman, A.3    Nakagawa, H.4    De La Chapelle, A.5    Frankel, W.L.6
  • 18
    • 80051679968 scopus 로고    scopus 로고
    • Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: Nucleolar MSH6 staining and impact of prior chemoradiation therapy
    • O.M. Radu, M.N. Nikiforova, L.M. Farkas, and A.M. Krasinskas Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: nucleolar MSH6 staining and impact of prior chemoradiation therapy Hum Pathol 42 2011 1247 1258
    • (2011) Hum Pathol , vol.42 , pp. 1247-1258
    • Radu, O.M.1    Nikiforova, M.N.2    Farkas, L.M.3    Krasinskas, A.M.4
  • 19
    • 79959962699 scopus 로고    scopus 로고
    • A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas
    • A. Mojtahed, I. Schrijver, J.M. Ford, T.A. Longacre, and R.K. Pai A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas Mod Pathol 24 2011 1004 1014
    • (2011) Mod Pathol , vol.24 , pp. 1004-1014
    • Mojtahed, A.1    Schrijver, I.2    Ford, J.M.3    Longacre, T.A.4    Pai, R.K.5
  • 20
    • 84871918963 scopus 로고    scopus 로고
    • Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency
    • J. Shia, L. Zhang, M. Shike, M. Guo, Z. Stadler, and X. Xiong Secondary mutation in a coding mononucleotide tract in MSH6 causes loss of immunoexpression of MSH6 in colorectal carcinomas with MLH1/PMS2 deficiency Mod Pathol 26 2013 131 138
    • (2013) Mod Pathol , vol.26 , pp. 131-138
    • Shia, J.1    Zhang, L.2    Shike, M.3    Guo, M.4    Stadler, Z.5    Xiong, X.6
  • 21
    • 84885615778 scopus 로고    scopus 로고
    • COLARIS: Hereditary cancer testing for colorectal cancer, uterine cancer. 2012 [cited 2012 December 6, 2012]. Available from.
    • Myriad Genetics. COLARIS: Hereditary cancer testing for colorectal cancer, uterine cancer. 2012 [cited 2012 December 6, 2012]. Available from: http://www.myriad.com/products/colaris/.
    • Myriad Genetics
  • 22
    • 84885607140 scopus 로고    scopus 로고
    • HNPCC/Lynch syndrome DNA analysis. 2012 [cited 2012. December 6, 2012]. Available from.
    • Ambry Genetics. HNPCC/Lynch syndrome DNA analysis. 2012 [cited 2012. December 6, 2012]. Available from: http://www.ambrygen.com/tests/hnpcc-lynch- syndrome-dna-analysis.
    • Ambry Genetics
  • 23
    • 52149114884 scopus 로고    scopus 로고
    • The histopathology of BRAF-V600E-mutated lung adenocarcinoma
    • S.A. Yousem, M. Nikiforova, and Y. Nikiforov The histopathology of BRAF-V600E-mutated lung adenocarcinoma Am J Surg Pathol 32 2008 1317 1321
    • (2008) Am J Surg Pathol , vol.32 , pp. 1317-1321
    • Yousem, S.A.1    Nikiforova, M.2    Nikiforov, Y.3
  • 24
    • 0025424347 scopus 로고
    • Crohn's-like lymphoid reaction and colorectal carcinoma: A potential histologic prognosticator
    • D.M. Graham, and H.D. Appelman Crohn's-like lymphoid reaction and colorectal carcinoma: a potential histologic prognosticator Mod Pathol 3 1990 332 335
    • (1990) Mod Pathol , vol.3 , pp. 332-335
    • Graham, D.M.1    Appelman, H.D.2
  • 25
    • 0033063711 scopus 로고    scopus 로고
    • New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC
    • H.F. Vasen, P. Watson, J.P. Mecklin, and H.T. Lynch New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC Gastroenterology 116 1999 1453 1456
    • (1999) Gastroenterology , vol.116 , pp. 1453-1456
    • Vasen, H.F.1    Watson, P.2    Mecklin, J.P.3    Lynch, H.T.4
  • 27
    • 79960604164 scopus 로고    scopus 로고
    • Strategies to identify the Lynch syndrome among patients with colorectal cancer: A cost-effectiveness analysis
    • U. Ladabaum, G. Wang, and J. Terdiman Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis Ann Intern Med 155 2011 69 79
    • (2011) Ann Intern Med , vol.155 , pp. 69-79
    • Ladabaum, U.1    Wang, G.2    Terdiman, J.3
  • 28
    • 0035899935 scopus 로고    scopus 로고
    • Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer
    • S.D. Ramsey, L. Clarke, R. Etzioni, M. Higashi, K. Berry, and N. Urban Cost-effectiveness of microsatellite instability screening as a method for detecting hereditary nonpolyposis colorectal cancer Ann Intern Med 135 2001 577 588
    • (2001) Ann Intern Med , vol.135 , pp. 577-588
    • Ramsey, S.D.1    Clarke, L.2    Etzioni, R.3    Higashi, M.4    Berry, K.5    Urban, N.6
  • 29
    • 0038002279 scopus 로고    scopus 로고
    • Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer
    • C.M. Ribic, D.J. Sargent, and M.J. Moore Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer N Engl J Med 349 2003 247 257
    • (2003) N Engl J Med , vol.349 , pp. 247-257
    • Ribic, C.M.1    Sargent, D.J.2    Moore, M.J.3
  • 30
    • 20244386395 scopus 로고    scopus 로고
    • Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer
    • V. Pinol, A. Castells, and M. Andreu Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer JAMA 293 2005 1986 1994
    • (2005) JAMA , vol.293 , pp. 1986-1994
    • Pinol, V.1    Castells, A.2    Andreu, M.3
  • 31
    • 9144237543 scopus 로고    scopus 로고
    • The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC
    • A.E. De Jong, H. Morreau, and M. Van Puijenbroek The role of mismatch repair gene defects in the development of adenomas in patients with HNPCC Gastroenterology 126 2004 42 48
    • (2004) Gastroenterology , vol.126 , pp. 42-48
    • De Jong, A.E.1    Morreau, H.2    Van Puijenbroek, M.3
  • 32
    • 84860444701 scopus 로고    scopus 로고
    • Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: A case series from the Australasian site of the colon cancer family registry
    • M.D. Walsh, D.D. Buchanan, and S.A. Pearson Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry Mod Pathol 25 2012 722 730
    • (2012) Mod Pathol , vol.25 , pp. 722-730
    • Walsh, M.D.1    Buchanan, D.D.2    Pearson, S.A.3
  • 33
    • 84876492979 scopus 로고    scopus 로고
    • Risk of cancer in cases of suspected Lynch syndrome without germline mutation
    • M. Rodriguez-Soler, L. Perez-Carbonell, and C. Guarinos Risk of cancer in cases of suspected Lynch syndrome without germline mutation Gastroenterology 144 2013 926 932
    • (2013) Gastroenterology , vol.144 , pp. 926-932
    • Rodriguez-Soler, M.1    Perez-Carbonell, L.2    Guarinos, C.3
  • 34
    • 84862265497 scopus 로고    scopus 로고
    • Screening for Lynch syndrome in colorectal cancer: Are we doing enough?
    • G. Canard, J.H. Lefevre, and C. Colas Screening for Lynch syndrome in colorectal cancer: are we doing enough? Ann Surg Oncol 19 2012 809 816
    • (2012) Ann Surg Oncol , vol.19 , pp. 809-816
    • Canard, G.1    Lefevre, J.H.2    Colas, C.3
  • 35
    • 84857993554 scopus 로고    scopus 로고
    • Yield of routine molecular analyses in colorectal cancer patients
    • M.G. van Lier, C.H. Leenen, and A. Wagner Yield of routine molecular analyses in colorectal cancer patients
    • (2012) J Pathol , vol.226 , pp. 764-774
    • Van Lier, M.G.1    Leenen, C.H.2    Wagner, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.