Hereditary colorectal cancer diagnostics: Morphological features of familial colorectal cancer type X versus Lynch syndrome

Journal of Clinical Pathology

Volumn 65, Issue 4, 2012, Pages 352-356

  Klarskov, Louise ^a   Holck, Susanne ^a   Bernstein, Inge ^a   Nilbert, Mef ^a,b  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b LUND UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CANCER GROWTH; CANCER LOCALIZATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CROHN DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; FAMILIAL COLORECTAL CANCER TYPE X; FEMALE; HEREDITARY COLORECTAL CANCER; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LYMPHOCYTE; LYMPHOCYTIC INFILTRATION; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COHORT STUDIES; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DIAGNOSIS, DIFFERENTIAL; DNA MISMATCH REPAIR; FEMALE; HUMANS; MALE; MIDDLE AGED; YOUNG ADULT;

EID: 84858698973     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2011-200535     Document Type: Article

References (31)

1. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 2000;118:829-34. (Pubitemid 30243745)
2. Renkonen-Sinisalo L, Aarnio M, Mecklin JP, et al. Surveillance improves survival of colorectal cancer in patients with hereditary nonpolyposis colorectal cancer. Cancer Detect Prev 2000;24:137-42. (Pubitemid 30427699)
3. Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum 1991;34:424-5.
4. Lindor NM. Familial colorectal cancer type X: the other half of hereditary nonpolyposis colon cancer syndrome. Surg Oncol Clin N Am 2009;18:637-45.
5. Llor X, Pons E, Xicola RM, et al. Differential features of colorectal cancers fulfilling Amsterdam criteria without involvement of the mutator pathway. Clin Cancer Res 2005;11:7304-10. (Pubitemid 41507688)
6. Valle L, Perea J, Carbonell P, et al. Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status. J Clin Oncol 2007;25:781-6. (Pubitemid 350002877)
7. Jass JR. Hereditary Non-Polyposis Colorectal Cancer: the rise and fall of a confusing term. World J Gastroenterol 2006;12:4943-50. (Pubitemid 44323261)
8. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 2005;293:1979-85. (Pubitemid 40570891)
9. Dove-Edwin I, de Jong AE, Adams J, et al. Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. Gastroenterology 2006;130:1995-2000. (Pubitemid 43816950)
10. Mueller-Koch Y, Vogelsang H, Kopp R, et al. Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. Gut 2005;54:1733-40. (Pubitemid 41697672)
11. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet 2007;44:353-62. (Pubitemid 46953715)
12. Halvarsson B, Muller W, Planck M, et al. Phenotypic heterogeneity in hereditary non-polyposis colorectal cancer: identical germline mutations associated with variable tumour morphology and immunohistochemical expression. J Clin Pathol 2007;60:781-6. (Pubitemid 47056907)
13. Jass JR, Walsh MD, Barker M, et al. Distinction between familial and sporadic forms of colorectal cancer showing DNA microsatellite instability. Eur J Cancer 2002;38:858-66. (Pubitemid 34442312)
14. Shashidharan M, Smyrk T, Lin KM, et al. Histologic comparison of hereditary nonpolyposis colorectal cancer associated with MSH2 and MLH1 and colorectal cancer from the general population. Dis Colon Rectum 1999;42:722-6. (Pubitemid 29279423)
15. Young J, Simms LA, Biden KG, et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am J Pathol 2001;159:2107-16. (Pubitemid 33104265)
16. Jass JR, Cottier DS, Jeevaratnam P, et al. Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer. Lancet 1995;346:1200-1.
17. Klarskov L, Holck S, Bernstein I, et al. Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. Am J Surg Pathol 2011;35:1391-9.
18. Makinen MJ. Colorectal serrated adenocarcinoma. Histopathology 2007;50:131-50. (Pubitemid 44953404)
19. Tuppurainen K, Makinen JM, Junttila O, et al. Morphology and microsatellite instability in sporadic serrated and non-serrated colorectal cancer. J Pathol 2005;207:285-94. (Pubitemid 41556452)
20. Hamilton SR, Vogelstein B, Kudo S, et al. Tumors of the colon and rectum. In: Hamilton SR, Aaltonen LA, eds. WHO Classification Tumours of the Digestive System. Lyon: IARC Press, 2000:101-43.
21. Greenson JK, Bonner JD, Ben-Yzhak O, et al. Phenotype of microsatellite unstable colorectal carcinomas: well-differentiated and focally mucinous tumors and the absence of dirty necrosis correlate with microsatellite instability. Am J Surg Pathol 2003;27:563-70. (Pubitemid 36514468)
22. Michael-Robinson JM, Biemer-Huttmann A, Purdie DM, et al. Tumour infiltrating lymphocytes and apoptosis are independent features in colorectal cancer stratified according to microsatellite instability status. Gut 2001;48:360-6. (Pubitemid 32269564)
23. Shia J, Black D, Hummer AJ, et al. Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer. Hum Pathol 2008;39:116-25. (Pubitemid 350216167)
24. Jenkins MA, Hayashi S, O'Shea AM, et al. Pathology features in Bethesda guidelines predict colorectal cancer microsatellite instability: a population-based study. Gastroenterology 2007;133:48-56. (Pubitemid 47039240)
25. Jass JR, Love SB, Northover JM. A new prognostic classification of rectal cancer. Lancet 1987;1:1303-6. (Pubitemid 17072200)
26. Ueno H, Murphy J, Jass JR, et al. Tumour 'budding' as an index to estimate the potential of aggressiveness in rectal cancer. Histopathology 2002;40:127-32. (Pubitemid 34122114)
27. Klarskov L, Ladelund S, Holck S, et al. Interobserver variability in the evaluation of mismatch repair protein immunostaining. Hum Pathol 2010;41:1387-96.
28. Snover DC. Update on the serrated pathway to colorectal carcinoma. Hum Pathol 2011;42:1-10.
29. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 2004;41:664-8. (Pubitemid 39208606)
30. Deng G, Bell I, Crawley S, et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004;10:191-5. (Pubitemid 38114179)
31. Goel A, Xicola RM, Nguyen TP, et al. Aberrant DNA methylation in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 2010;138:1854-62.