메뉴 건너뛰기




Volumn 43, Issue 10, 2012, Pages 1677-1687

Unusual DNA mismatch repair-deficient tumors in Lynch syndrome: A report of new cases and review of the literature

Author keywords

Hereditary nonpolyposis colorectal cancer; Immunohistochemistry; Microsatellite instability

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; GENETIC COUNSELING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; MALE; MEDICAL HISTORY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; PANCREAS CARCINOMA; PANCREATIC ACINAR CELL CARCINOMA; PANCREATIC NEUROENDOCRINE TUMOR; PEDIGREE; PERITONEUM MESOTHELIOMA; POLYMERASE CHAIN REACTION;

EID: 84866500834     PISSN: 00468177     EISSN: 15328392     Source Type: Journal    
DOI: 10.1016/j.humpath.2011.12.012     Document Type: Article
Times cited : (88)

References (32)
  • 1
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • H.F. Vasen, J.P. Mecklin, P.M. Khan, and H.T. Lynch The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) Dis Colon Rectum 34 1991 424 425
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3    Lynch, H.T.4
  • 2
    • 0033039409 scopus 로고    scopus 로고
    • Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis
    • [discussion 715-6]
    • J.G. Park, H.F. Vasen, and K.J. Park Suspected hereditary nonpolyposis colorectal cancer: International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis Dis Colon Rectum 42 1999 710 715 [discussion 715-6]
    • (1999) Dis Colon Rectum , vol.42 , pp. 710-715
    • Park, J.G.1    Vasen, H.F.2    Park, K.J.3
  • 5
    • 0021328985 scopus 로고
    • Familial colonic cancer without antecedent polyposis
    • C.R. Boland, and F.J. Troncale Familial colonic cancer without antecedent polyposis Ann Intern Med 100 1984 700 701 (Pubitemid 14143948)
    • (1984) Annals of Internal Medicine , vol.100 , Issue.5 , pp. 700-701
    • Boland, C.R.1    Troncale, F.J.2
  • 6
    • 59849117793 scopus 로고    scopus 로고
    • Recommendations from the EGAPP Working Group: Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan?
    • Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? Genet Med 11 2009 15 20
    • (2009) Genet Med , vol.11 , pp. 15-20
  • 7
    • 67650924286 scopus 로고    scopus 로고
    • Review of the Lynch syndrome: History, molecular genetics, screening, differential diagnosis, and medicolegal ramifications
    • H.T. Lynch, P.M. Lynch, S.J. Lanspa, C.L. Snyder, J.F. Lynch, and C.R. Boland Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications Clin Genet 76 2009 1 18
    • (2009) Clin Genet , vol.76 , pp. 1-18
    • Lynch, H.T.1    Lynch, P.M.2    Lanspa, S.J.3    Snyder, C.L.4    Lynch, J.F.5    Boland, C.R.6
  • 8
    • 77952681872 scopus 로고    scopus 로고
    • Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer
    • C.R. Boland, and M. Shike Report from the Jerusalem workshop on Lynch syndrome-hereditary nonpolyposis colorectal cancer Gastroenterology 138 2010 2197
    • (2010) Gastroenterology , vol.138 , pp. 2197
    • Boland, C.R.1    Shike, M.2
  • 9
    • 47649123223 scopus 로고    scopus 로고
    • Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: Part I. The utility of immunohistochemistry
    • DOI 10.2353/jmoldx.2008.080031
    • J. Shia Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry J Mol Diagn 10 2008 293 300 (Pubitemid 352019113)
    • (2008) Journal of Molecular Diagnostics , vol.10 , Issue.4 , pp. 293-300
    • Shia, J.1
  • 11
    • 80054975334 scopus 로고    scopus 로고
    • Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in 2 German families
    • A. Brieger, K. Engels, and D. Schaefer Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in 2 German families Fam Cancer 10 2011 591 595
    • (2011) Fam Cancer , vol.10 , pp. 591-595
    • Brieger, A.1    Engels, K.2    Schaefer, D.3
  • 12
    • 0033763207 scopus 로고    scopus 로고
    • Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer
    • R. Sijmons, R. Hofstra, and H. Hollema Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer Genes Chromosomes Cancer 29 2000 353 355
    • (2000) Genes Chromosomes Cancer , vol.29 , pp. 353-355
    • Sijmons, R.1    Hofstra, R.2    Hollema, H.3
  • 13
    • 58749111252 scopus 로고    scopus 로고
    • The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome
    • M. Clyne, J. Offman, and S. Shanley The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome Br J Cancer 100 2009 376 380
    • (2009) Br J Cancer , vol.100 , pp. 376-380
    • Clyne, M.1    Offman, J.2    Shanley, S.3
  • 15
    • 68449087753 scopus 로고    scopus 로고
    • Sarcomas associated with hereditary nonpolyposis colorectal cancer: Broad anatomical and morphological spectrum
    • M. Nilbert, C. Therkildsen, A. Nissen, M. Akerman, and I. Bernstein Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum Fam Cancer 8 2009 209 213
    • (2009) Fam Cancer , vol.8 , pp. 209-213
    • Nilbert, M.1    Therkildsen, C.2    Nissen, A.3    Akerman, M.4    Bernstein, I.5
  • 17
    • 80054997206 scopus 로고    scopus 로고
    • Synchronous breast cancers with different morphologic and molecular phenotypes occurring in lynch syndrome: What does the heterogeneity imply?
    • C. D'Arcy, Y.H. Wen, Z.K. Stadler, E. Brogi, and J. Shia Synchronous breast cancers with different morphologic and molecular phenotypes occurring in lynch syndrome: what does the heterogeneity imply? Am J Surg Pathol 35 2011 1743 1748
    • (2011) Am J Surg Pathol , vol.35 , pp. 1743-1748
    • D'Arcy, C.1    Wen, Y.H.2    Stadler, Z.K.3    Brogi, E.4    Shia, J.5
  • 19
    • 70449524509 scopus 로고    scopus 로고
    • First case report of Muir-Torre syndrome associated with non-small cell lung cancer
    • L. Nolan, D. Eccles, and E. Cross First case report of Muir-Torre syndrome associated with non-small cell lung cancer Fam Cancer 8 2009 359 362
    • (2009) Fam Cancer , vol.8 , pp. 359-362
    • Nolan, L.1    Eccles, D.2    Cross, E.3
  • 20
    • 3342984883 scopus 로고    scopus 로고
    • Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndrome
    • DOI 10.1038/modpathol.3800150
    • R.R. Broaddus, P.M. Lynch, K.H. Lu, R. Luthra, and S.J. Michelson Unusual tumors associated with the hereditary nonpolyposis colorectal cancer syndrome Mod Pathol 17 2004 981 989 (Pubitemid 38993783)
    • (2004) Modern Pathology , vol.17 , Issue.8 , pp. 981-989
    • Broaddus, R.R.1    Lynch, P.M.2    Lu, K.H.3    Luthra, R.4    Michelson, S.J.5
  • 22
    • 79958081637 scopus 로고    scopus 로고
    • Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome
    • V. Medina-Arana, L. Delgado, and L. Gonzalez Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome Fam Cancer 10 2011 265 271
    • (2011) Fam Cancer , vol.10 , pp. 265-271
    • Medina-Arana, V.1    Delgado, L.2    Gonzalez, L.3
  • 23
    • 33745977120 scopus 로고    scopus 로고
    • Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers
    • DOI 10.2353/jmoldx.2006.050092
    • K.M. Murphy, S. Zhang, and T. Geiger Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers JMol Diagn 8 2006 305 311 (Pubitemid 44063806)
    • (2006) Journal of Molecular Diagnostics , vol.8 , Issue.3 , pp. 305-311
    • Murphy, K.M.1    Zhang, S.2    Geiger, T.3    Hafez, M.J.4    Bacher, J.5    Berg, K.D.6    Eshleman, J.R.7
  • 24
    • 71749106698 scopus 로고    scopus 로고
    • Serous oligocystic adenoma (SOIA) of the pancreas - First reported case of a genetically fixed association in a patient with hereditary non-polyposis colorectal cancer (HNPCC)
    • M. Petersen, M. Evert, and R. Schneider-Stock Serous oligocystic adenoma (SOIA) of the pancreas - first reported case of a genetically fixed association in a patient with hereditary non-polyposis colorectal cancer (HNPCC) Pathol Res Pract 205 2009 801 806
    • (2009) Pathol Res Pract , vol.205 , pp. 801-806
    • Petersen, M.1    Evert, M.2    Schneider-Stock, R.3
  • 25
    • 84855169664 scopus 로고    scopus 로고
    • Acinar cell carcinoma of the pancreas: New genetic and treatment insights into a rare malignancy
    • M.A. Lowery, D.S. Klimstra, and J. Shia Acinar cell carcinoma of the pancreas: new genetic and treatment insights into a rare malignancy Oncologist 16 2011 1714 1720
    • (2011) Oncologist , vol.16 , pp. 1714-1720
    • Lowery, M.A.1    Klimstra, D.S.2    Shia, J.3
  • 26
    • 75749143373 scopus 로고    scopus 로고
    • Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening
    • C.S. Walsh, A. Blum, and A. Walts Lynch syndrome among gynecologic oncology patients meeting Bethesda guidelines for screening Gynecol Oncol 116 2010 516 521
    • (2010) Gynecol Oncol , vol.116 , pp. 516-521
    • Walsh, C.S.1    Blum, A.2    Walts, A.3
  • 27
    • 77950861029 scopus 로고    scopus 로고
    • Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome
    • U.B. Jensen, L. Sunde, and S. Timshel Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome Breast Cancer Res Treat 120 2010 777 782
    • (2010) Breast Cancer Res Treat , vol.120 , pp. 777-782
    • Jensen, U.B.1    Sunde, L.2    Timshel, S.3
  • 28
    • 0034989895 scopus 로고    scopus 로고
    • Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? [1] (multiple letter)
    • DOI 10.1086/320610
    • H.F. Vasen, H. Morreau, and J.W. Nortier Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? Am J Hum Genet 68 2001 1533 1535 (Pubitemid 32510631)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.6 , pp. 1533-1535
    • Vasen, H.F.A.1    Morreau, H.2    Nortier, J.W.R.3    Scott, R.J.4
  • 29
    • 0035011418 scopus 로고    scopus 로고
    • Stepwise deletions of polyA sequences in mismatch repair-deficient colorectal cancers
    • C. Blake, J.L. Tsao, A. Wu, and D. Shibata Stepwise deletions of polyA sequences in mismatch repair-deficient colorectal cancers Am J Pathol 158 2001 1867 1870 (Pubitemid 32427675)
    • (2001) American Journal of Pathology , vol.158 , Issue.5 , pp. 1867-1870
    • Blake, C.1    Tsao, J.-L.2    Wu, A.3    Shibata, D.4
  • 30
    • 10744220882 scopus 로고    scopus 로고
    • Prognostic value of hMLH1 methylation and microsatellite instability in pancreatic endocrine neoplasms
    • [discussion 909]
    • M.G. House, J.G. Herman, and M.Z. Guo Prognostic value of hMLH1 methylation and microsatellite instability in pancreatic endocrine neoplasms Surgery 134 2003 902 908 [discussion 909]
    • (2003) Surgery , vol.134 , pp. 902-908
    • House, M.G.1    Herman, J.G.2    Guo, M.Z.3
  • 31
    • 69949109032 scopus 로고    scopus 로고
    • Clinical implications of microsatellite instability and MLH1 gene inactivation in sporadic insulinomas
    • M. Mei, D. Deng, and T.H. Liu Clinical implications of microsatellite instability and MLH1 gene inactivation in sporadic insulinomas J Clin Endocrinol Metab 94 2009 3448 3457
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3448-3457
    • Mei, M.1    Deng, D.2    Liu, T.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.