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[More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability].
Ned Tijdschr Geneeskd. 2005 Aug 06; 149(32):1792-8.NT

Abstract

OBJECTIVE

To determine whether an investigation of microsatellite instability (MSI) in patients with colorectal carcinoma that have been selected by the pathologist could increase the number of detected families with hereditary non-polyposis colorectal carcinoma (HNPCC).

DESIGN

Prospective inventory.

METHOD

Pathologists selected patients with a newly diagnosed colorectal carcinoma for MSI analysis of their tumour tissue if they met one of the following four criteria: (a) colorectal carcinoma diagnosed below 50 years of age; (b) a second colorectal carcinoma; (c) a combination of colorectal carcinoma and another HNPCC-related cancer; (d) colorectal adenoma with high-grade dysplasia diagnosed below 40 years of age. Patients with a positive MSI-test were referred to a clinical geneticist. The new strategy was introduced and explored in 5 hospitals for a period of to months.

RESULTS

The new strategy was adopted and implemented successfully by pathologists and surgeons and accepted with satisfaction by the patients. Of the 55 patients included, 10 had a positive MSI-test. In 8/10 patients, DNA-mutation analysis was started by the clinical geneticist and 3 germline mutations in the MSH2-gene were detected. In 2 of 3 families with a pathogenic mutation, the family history alone did not fulfil the clinical criteria for HNPCC.

CONCLUSION

Selection by the pathologist for MSI investigation was feasible in daily practice and identified more HNPCC patients than selection based on family history alone.

Links

clinical trials

Authors+Show Affiliations

de Bruin JH
Universitair Medisch Centrum St Radboud, Postbus 9IoI, 6500 HB Nijmegen. j.debruin@antrg.umcn.nl
Kievit W
No affiliation info available
Ligtenberg MJ
No affiliation info available
Nagengast FM
No affiliation info available
Adang EM
No affiliation info available
Ruers TJ
No affiliation info available
Kleibeuker JH
No affiliation info available
Sijmons RH
No affiliation info available
van Krieken JH
No affiliation info available
Hoogerbrugge N
No affiliation info available

MeSH

AdultColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDiagnosis, DifferentialFemaleGenetic TestingGenomic InstabilityGerm-Line MutationHumansMaleMicrosatellite RepeatsMiddle AgedNetherlandsPedigreePredictive Value of TestsProspective Studies

Pub Type(s)

English Abstract
Journal Article

Language

dut

PubMed ID

16121665

Clinical Trial Links

Implementation of a New Strategy to Identify HNPCC Patients

Citation

de Bruin, J H F M., et al. "[More Hereditary Intestinal Cancer Can Be Detected if Patients With Colorectal Carcinoma That Are Selected By the Pathologist Are Examined for Microsatellite Instability]." Nederlands Tijdschrift Voor Geneeskunde, vol. 149, no. 32, 2005, pp. 1792-8.
de Bruin JH, Kievit W, Ligtenberg MJ, et al. [More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability]. Ned Tijdschr Geneeskd. 2005;149(32):1792-8.
de Bruin, J. H., Kievit, W., Ligtenberg, M. J., Nagengast, F. M., Adang, E. M., Ruers, T. J., Kleibeuker, J. H., Sijmons, R. H., van Krieken, J. H., & Hoogerbrugge, N. (2005). [More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability]. Nederlands Tijdschrift Voor Geneeskunde, 149(32), 1792-8.
de Bruin JH, et al. [More Hereditary Intestinal Cancer Can Be Detected if Patients With Colorectal Carcinoma That Are Selected By the Pathologist Are Examined for Microsatellite Instability]. Ned Tijdschr Geneeskd. 2005 Aug 6;149(32):1792-8. PubMed PMID: 16121665.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [More hereditary intestinal cancer can be detected if patients with colorectal carcinoma that are selected by the pathologist are examined for microsatellite instability]. AU - de Bruin,J H F M, AU - Kievit,W, AU - Ligtenberg,M J L, AU - Nagengast,F M, AU - Adang,E M M, AU - Ruers,T J, AU - Kleibeuker,J H, AU - Sijmons,R H, AU - van Krieken,J H J M, AU - Hoogerbrugge,N, PY - 2005/8/27/pubmed PY - 2005/9/24/medline PY - 2005/8/27/entrez SP - 1792 EP - 8 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 149 IS - 32 N2 - OBJECTIVE: To determine whether an investigation of microsatellite instability (MSI) in patients with colorectal carcinoma that have been selected by the pathologist could increase the number of detected families with hereditary non-polyposis colorectal carcinoma (HNPCC). DESIGN: Prospective inventory. METHOD: Pathologists selected patients with a newly diagnosed colorectal carcinoma for MSI analysis of their tumour tissue if they met one of the following four criteria: (a) colorectal carcinoma diagnosed below 50 years of age; (b) a second colorectal carcinoma; (c) a combination of colorectal carcinoma and another HNPCC-related cancer; (d) colorectal adenoma with high-grade dysplasia diagnosed below 40 years of age. Patients with a positive MSI-test were referred to a clinical geneticist. The new strategy was introduced and explored in 5 hospitals for a period of to months. RESULTS: The new strategy was adopted and implemented successfully by pathologists and surgeons and accepted with satisfaction by the patients. Of the 55 patients included, 10 had a positive MSI-test. In 8/10 patients, DNA-mutation analysis was started by the clinical geneticist and 3 germline mutations in the MSH2-gene were detected. In 2 of 3 families with a pathogenic mutation, the family history alone did not fulfil the clinical criteria for HNPCC. CONCLUSION: Selection by the pathologist for MSI investigation was feasible in daily practice and identified more HNPCC patients than selection based on family history alone. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/16121665/[More_hereditary_intestinal_cancer_can_be_detected_if_patients_with_colorectal_carcinoma_that_are_selected_by_the_pathologist_are_examined_for_microsatellite_instability]_ L2 - https://ClinicalTrials.gov/search/term=16121665 [PUBMED-IDS] DB - PRIME DP - Unbound Medicine ER -