[show abstract][hide abstract] ABSTRACT: PurposeThis study examined the referral process for genetic counseling at a cancer genetics clinic in patients with colorectal cancer
and to search for determinants of variation in this referral process.
MethodsPatients who were recently diagnosed with colorectal cancer at a young age or multiple cancers associated with Lynch syndrome,
hereditary nonpolyposis colorectal cancer, (N = 119) were selected from PALGA, the nationwide network and registry of histopathology
and cytopathology in the Netherlands. In a retrospective analysis, we examined whether these patients visited a cancer genetics
clinic and identified determinants for referral to such a clinic. Factors of patients, professional practice, and hospital
setting were explored with logistic regression modeling.
ResultsThirty-six (30 percent) patients visited a cancer genetics clinic. Seventy percent of patients whom the surgeon referred to
a cancer genetics clinic decided to visit such a clinic. Analysis of determinants showed that patients with whom the surgeon
discussed referral and that were treated in a teaching hospital were more likely to visit a cancer genetics clinic.
ConclusionThe referral process is not optimally carried out. To deliver optimal care for patients suspected of hereditary colorectal
cancer, this process must be improved with interventions focusing on patient referral by surgeons and raising awareness in
Diseases of the Colon & Rectum 04/2012; 51(8):1249-1254. · 3.34 Impact Factor
[show abstract][hide abstract] ABSTRACT: We examined the validity of immunohistochemistry for mismatch repair (MMR) proteins in colorectal cancer specimens to identify patients at risk for Lynch syndrome (hereditary nonpolyposis colorectal cancer) and patients with sporadic microsatellite instable colorectal cancer. This was assessed by observer agreement for and accuracy of interpretation of immunohistochemistry. Seven pathologists from 5 different pathology laboratories evaluated 100 molecularly defined colorectal cancers stained for MLH1, PMS2, MSH2, and MSH6. Two of the pathologists were experienced in interpretation of immunohistochemistry for MMR proteins. After evaluation of a subset of 20 cases, a discussion meeting was organized, after which pathologists evaluated all 100 cases. Staining patterns were interpreted as aberrant, normal, or indefinite. In 82% of tumors, 5 or more pathologists reached the same interpretation, which was considered the consensus diagnosis. Consensus was reached slightly less frequently in microsatellite instable than in stable tumors, and interobserver variation was moderate to substantial (kappa: 0.49-0.79). More microsatellite instable tumors showed an indefinite staining pattern compared with microsatellite stable tumors. Three out of 7 pathologists, including the 2 experienced pathologists, did not miss a microsatellite instable tumor. Each pathologist found at least 1 tumor with an aberrant staining pattern, whereas consensus was a normal staining pattern and the tumor was microsatellite stable. We conclude that, if restricted to experienced pathologists, immunohistochemistry is a valid tool to identify patients at risk for Lynch syndrome and patients with sporadic microsatellite instable colorectal cancer. An indefinite or aberrant staining result has to be followed by molecular microsatellite instability analysis to confirm the presence of a defective DNA MMR system.
The American journal of surgical pathology 09/2008; 32(8):1246-51. · 4.06 Impact Factor