Phenotypic heterogeneity in hereditary nonpolyposis colorectal cancer: identical germline mutations associated with variable tumor morphology and immunohistochemical expression.
Halvarsson, Britta LU ; Müller, Wolfram ; Planck, Maria LU ; Benoni, Anna-Clara LU ; Mangell, Peter LU ; Ottosson, Johan ; Hallén, Magnus LU ; Isinger Ekstrand, Anna LU
and Nilbert, Mef
LU
(2007)
In Journal of Clinical Pathology
60(7).
p.781-786
- Abstract
- BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is associated with high risks for colorectal and endometrial cancer, young age at onset and an increased risk of multiple primary tumours. Colorectal cancer in HNPCC is characterised by poor tumour differentiation, an expanding growth pattern, and a pronounced lymphocytic reaction with tumour-infiltrating lymphocytes. Aims and METHODS: The mutation spectrum in HNPCC is diverse and in order to clarify whether the HNPCC tumour phenotype is influenced by the underlying genetic alteration, 29 colorectal cancers and 12 adenomas from 24 individuals in two HNPCC families were morphologically and immunohistochemically characterised. RESULTS: The tumour morphology as well as the... (More)
- BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is associated with high risks for colorectal and endometrial cancer, young age at onset and an increased risk of multiple primary tumours. Colorectal cancer in HNPCC is characterised by poor tumour differentiation, an expanding growth pattern, and a pronounced lymphocytic reaction with tumour-infiltrating lymphocytes. Aims and METHODS: The mutation spectrum in HNPCC is diverse and in order to clarify whether the HNPCC tumour phenotype is influenced by the underlying genetic alteration, 29 colorectal cancers and 12 adenomas from 24 individuals in two HNPCC families were morphologically and immunohistochemically characterised. RESULTS: The tumour morphology as well as the immunohistochemical expression of beta-catenin varied extensively within the families as well as between synchronous/metachronous colorectal cancers from the same individual. Poor tumour differentiation, an expanding growth pattern, and tumour-infiltrating lymphocytes occurred at higher frequencies in proximal tumours, whereas distal colorectal cancers often lacked distinct HNPCC-associated morphological features. CONCLUSIONS: The clinical, morphological and immunohistochemical variability observed within these families indicates that other mechanisms than the underlying germline mutation influence the HNPCC phenotype. Since morphological features linked to HNPCC are less frequent in distal cancers, it may be particularly relevant to obtain family history and age of onset in these tumours in order to identify individuals with HNPCC. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/160139
- author
- Halvarsson, Britta
LU
; Müller, Wolfram
; Planck, Maria
LU
; Benoni, Anna-Clara
LU
; Mangell, Peter
LU
; Ottosson, Johan
; Hallén, Magnus
LU
; Isinger Ekstrand, Anna
LU
and Nilbert, Mef
LU
- organization
- publishing date
- 2007
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- HNPCC, histopathology, hereditary non-polyposis colorectal cancer, heterogeneity, MMR, mismatch-repair
- in
- Journal of Clinical Pathology
- volume
- 60
- issue
- 7
- pages
- 781 - 786
- publisher
- BMJ Publishing Group
- external identifiers
-
- wos:000247592300008
- scopus:34447322031
- ISSN
- 1472-4146
- DOI
- 10.1136/jcp.2006.040402
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Oncology, MV (013035000), Surgery (013242200), Pathology, (Lund) (013030000), Surgery (Lund) (013009000), Department of Immunotechnology (011029300), Surgery Research Unit (013242220), Matrix biology (013212025)
- id
- b2a7d7b5-375c-47fd-8f22-db41679d96d3 (old id 160139)
- alternative location
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16901974&dopt=Abstract
- date added to LUP
- 2016-04-01 15:51:34
- date last changed
- 2022-01-28 07:38:39
@article{b2a7d7b5-375c-47fd-8f22-db41679d96d3,
abstract = {{BACKGROUND: Hereditary non-polyposis colorectal cancer (HNPCC) is associated with high risks for colorectal and endometrial cancer, young age at onset and an increased risk of multiple primary tumours. Colorectal cancer in HNPCC is characterised by poor tumour differentiation, an expanding growth pattern, and a pronounced lymphocytic reaction with tumour-infiltrating lymphocytes. Aims and METHODS: The mutation spectrum in HNPCC is diverse and in order to clarify whether the HNPCC tumour phenotype is influenced by the underlying genetic alteration, 29 colorectal cancers and 12 adenomas from 24 individuals in two HNPCC families were morphologically and immunohistochemically characterised. RESULTS: The tumour morphology as well as the immunohistochemical expression of beta-catenin varied extensively within the families as well as between synchronous/metachronous colorectal cancers from the same individual. Poor tumour differentiation, an expanding growth pattern, and tumour-infiltrating lymphocytes occurred at higher frequencies in proximal tumours, whereas distal colorectal cancers often lacked distinct HNPCC-associated morphological features. CONCLUSIONS: The clinical, morphological and immunohistochemical variability observed within these families indicates that other mechanisms than the underlying germline mutation influence the HNPCC phenotype. Since morphological features linked to HNPCC are less frequent in distal cancers, it may be particularly relevant to obtain family history and age of onset in these tumours in order to identify individuals with HNPCC.}},
author = {{Halvarsson, Britta and Müller, Wolfram and Planck, Maria and Benoni, Anna-Clara and Mangell, Peter and Ottosson, Johan and Hallén, Magnus and Isinger Ekstrand, Anna and Nilbert, Mef}},
issn = {{1472-4146}},
keywords = {{HNPCC; histopathology; hereditary non-polyposis colorectal cancer; heterogeneity; MMR; mismatch-repair}},
language = {{eng}},
number = {{7}},
pages = {{781--786}},
publisher = {{BMJ Publishing Group}},
series = {{Journal of Clinical Pathology}},
title = {{Phenotypic heterogeneity in hereditary nonpolyposis colorectal cancer: identical germline mutations associated with variable tumor morphology and immunohistochemical expression.}},
url = {{http://dx.doi.org/10.1136/jcp.2006.040402}},
doi = {{10.1136/jcp.2006.040402}},
volume = {{60}},
year = {{2007}},
}