TY - JOUR
T1 - Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings
T2 - Nucleolar MSH6 staining and impact of prior chemoradiation therapy
AU - Radu, Oana M.
AU - Nikiforova, Marina N.
AU - Farkas, Linda
AU - Krasinskas, Alyssa M.
PY - 2011/9/1
Y1 - 2011/9/1
N2 - Many pathology laboratories have developed specific screening protocols to detect patients with Lynch syndrome. With recent recommendations to test all patients with newly diagnosed colorectal cancer for Lynch syndrome, the volume of testing will increase, and the most economic and reliable screening test will prevail. Although the detection of microsatellite instability by polymerase chain reaction and the detection of loss of the mismatch repair proteins by immunohistochemistry can each be used as a screening tool, each methodology has its strengths and weaknesses. During the time of our study, we used both polymerase chain reaction and immunohistochemistry to screen for Lynch syndrome in colorectal cancer specimens. We encountered 21 cases that posed significant interpretive challenges. A previously unpublished pattern of nucleolar MSH6 staining and potential spurious results induced by chemoradiation therapy are described. We feel that it is important to report these cases so that potential pitfalls in screening for Lynch syndrome can be avoided.
AB - Many pathology laboratories have developed specific screening protocols to detect patients with Lynch syndrome. With recent recommendations to test all patients with newly diagnosed colorectal cancer for Lynch syndrome, the volume of testing will increase, and the most economic and reliable screening test will prevail. Although the detection of microsatellite instability by polymerase chain reaction and the detection of loss of the mismatch repair proteins by immunohistochemistry can each be used as a screening tool, each methodology has its strengths and weaknesses. During the time of our study, we used both polymerase chain reaction and immunohistochemistry to screen for Lynch syndrome in colorectal cancer specimens. We encountered 21 cases that posed significant interpretive challenges. A previously unpublished pattern of nucleolar MSH6 staining and potential spurious results induced by chemoradiation therapy are described. We feel that it is important to report these cases so that potential pitfalls in screening for Lynch syndrome can be avoided.
KW - Chemoradiation therapy
KW - Lynch syndrome
KW - Microsatellite instability
KW - Mismatch repair proteins
KW - MSH6
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U2 - 10.1016/j.humpath.2010.11.016
DO - 10.1016/j.humpath.2010.11.016
M3 - Article
C2 - 21334712
AN - SCOPUS:80051679968
VL - 42
SP - 1247
EP - 1258
JO - Human Pathology
JF - Human Pathology
SN - 0046-8177
IS - 9
ER -