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

Klarskov, Louise; Holck, Susanne; Bernstein, Inge and Nilbert, Mef LU (2012) In Journal of Clinical Pathology 65(4). p.352-356
Abstract
Background The hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain.... (More)
Background The hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain. Objective and methods To perform a detailed morphological evaluation of HNPCC-associated colorectal cancers and demonstrate significant differences between tumours associated with FCCTX and Lynch syndrome. Results The morphological features associated with Lynch syndrome, that is, right-sided tumour location, poor differentiation, expansive growth pattern, tumour-infiltrating lymphocytes, peritumorous lymphocytes, Crohn-like reactions, and lack of dirty necrosis, were significantly less often observed in FCCTX tumours. Discussion The less typical morphology in FCCTX implies that family history of cancer needs to be taken into account since these tumours cannot readily be recognised based on histopathological features. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Clinical Pathology
volume
65
issue
4
pages
352 - 356
publisher
BMJ Publishing Group
external identifiers
  • wos:000301951300011
  • scopus:84858698973
ISSN
1472-4146
DOI
10.1136/jclinpath-2011-200535
language
English
LU publication?
yes
id
c747a4f7-07a8-4a0d-bf4a-a4d0ac0fce7c (old id 2494515)
date added to LUP
2012-05-07 14:27:53
date last changed
2017-09-03 03:59:12
@article{c747a4f7-07a8-4a0d-bf4a-a4d0ac0fce7c,
  abstract     = {Background The hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain. Objective and methods To perform a detailed morphological evaluation of HNPCC-associated colorectal cancers and demonstrate significant differences between tumours associated with FCCTX and Lynch syndrome. Results The morphological features associated with Lynch syndrome, that is, right-sided tumour location, poor differentiation, expansive growth pattern, tumour-infiltrating lymphocytes, peritumorous lymphocytes, Crohn-like reactions, and lack of dirty necrosis, were significantly less often observed in FCCTX tumours. Discussion The less typical morphology in FCCTX implies that family history of cancer needs to be taken into account since these tumours cannot readily be recognised based on histopathological features.},
  author       = {Klarskov, Louise and Holck, Susanne and Bernstein, Inge and Nilbert, Mef},
  issn         = {1472-4146},
  language     = {eng},
  number       = {4},
  pages        = {352--356},
  publisher    = {BMJ Publishing Group},
  series       = {Journal of Clinical Pathology},
  title        = {Hereditary colorectal cancer diagnostics: morphological features of familial colorectal cancer type X versus Lynch syndrome},
  url          = {http://dx.doi.org/10.1136/jclinpath-2011-200535},
  volume       = {65},
  year         = {2012},
}