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CR07*IMMUNOHISTOCHEMISTRY FOR LOSS OF EXPRESSION OF MISMATCH REPAIR GENE PROTEINS IN YOUNG PATIENTS WITH COLORECTAL CANCER: THE AUCKLAND EXPERIENCE

Identifieur interne : 001174 ( Istex/Corpus ); précédent : 001173; suivant : 001175

CR07*IMMUNOHISTOCHEMISTRY FOR LOSS OF EXPRESSION OF MISMATCH REPAIR GENE PROTEINS IN YOUNG PATIENTS WITH COLORECTAL CANCER: THE AUCKLAND EXPERIENCE

Auteurs : D. M. Wright ; S. Parry ; J. Arnold ; I. Bissett ; M. Hulme Oir ; B. Parry

Source :

RBID : ISTEX:C61AF7AD23BF14689F1B4649130DCC991B2F94A3

Abstract

Recently, in Australasia, a plea to screen all young patients with colorectal cancer (CRC) for Lynch syndrome has been advanced1. Since 2001 the three public hospitals in Auckland have had the policy of undertaking immunohistochemical (IHC) testing on the tumours of patients aged 50 years and under to detect loss of expression (LOE) of protein products for the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Purpose:   To determine (1) the completeness of patient capture, (2) the incidence of LOE by IHC of the 4 gene proteins, and (3) to correlate IHC results with those of subsequent genetic testing for the corresponding germline mutations. Methodology:   Retrospective review of the prospectively gathered clinical, pathological, and genetic records of all patients diagnosed with CRC aged 50 years and below between January 2001 and December 2007. Results:   244 patients aged 50 years or below with CRC were diagnosed in this period. 212 (86.9%) patients’ tumours underwent IHC, 147 of which had all 4 gene products studied. 30 (14.2%) tumours had LOE for one or more MMR proteins. 25/30 patients were offered genetic testing of whom 3 declined. So far 8 out of 16 patients tested have a confirmed germline mutation. Only 3/8 patients report a family history of CRC. Conclusion:   Tumour IHC reveals LOE for one of the four MMR gene proteins in approximately 14% of young patients developing CRC and in half subsequent genetic testing will identify Lynch syndrome. A policy of mandatory testing is confirmed but audit of performance and appropriate referral is required.

Url:
DOI: 10.1111/j.1445-2197.2009.04915_7.x

Links to Exploration step

ISTEX:C61AF7AD23BF14689F1B4649130DCC991B2F94A3

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<p>Since 2001 the three public hospitals in Auckland have had the policy of undertaking immunohistochemical (IHC) testing on the tumours of patients aged 50 years and under to detect loss of expression (LOE) of protein products for the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2.</p>
<p>
<b>Purpose:  </b>
To determine (1) the completeness of patient capture, (2) the incidence of LOE by IHC of the 4 gene proteins, and (3) to correlate IHC results with those of subsequent genetic testing for the corresponding germline mutations.</p>
<p>
<b>Methodology:  </b>
Retrospective review of the prospectively gathered clinical, pathological, and genetic records of all patients diagnosed with CRC aged 50 years and below between January 2001 and December 2007.</p>
<p>
<b>Results:  </b>
244 patients aged 50 years or below with CRC were diagnosed in this period. 212 (86.9%) patients’ tumours underwent IHC, 147 of which had all 4 gene products studied. 30 (14.2%) tumours had LOE for one or more MMR proteins. 25/30 patients were offered genetic testing of whom 3 declined. So far 8 out of 16 patients tested have a confirmed germline mutation. Only 3/8 patients report a family history of CRC.</p>
<p>
<b>Conclusion:  </b>
Tumour IHC reveals LOE for one of the four MMR gene proteins in approximately 14% of young patients developing CRC and in half subsequent genetic testing will identify Lynch syndrome. A policy of mandatory testing is confirmed but audit of performance and appropriate referral is required.</p>
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<title>CR07*IMMUNOHISTOCHEMISTRY FOR LOSS OF EXPRESSION OF MISMATCH REPAIR GENE PROTEINS IN YOUNG PATIENTS WITH COLORECTAL CANCER: THE AUCKLAND EXPERIENCE</title>
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<title>ANZ J. Surg. 2009; 79 (Suppl. 1)</title>
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<title>CR07
*IMMUNOHISTOCHEMISTRY FOR LOSS OF EXPRESSION OF MISMATCH REPAIR GENE PROTEINS IN YOUNG PATIENTS WITH COLORECTAL CANCER: THE AUCKLAND EXPERIENCE</title>
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<name type="personal">
<namePart type="given">D. M.</namePart>
<namePart type="family">Wright</namePart>
<affiliation>Auckland City Hospital, Auckland, New Zealand</affiliation>
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<namePart type="given">S.</namePart>
<namePart type="family">Parry</namePart>
<affiliation>Auckland City Hospital, Auckland, New Zealand</affiliation>
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<name type="personal">
<namePart type="given">J.</namePart>
<namePart type="family">Arnold</namePart>
<affiliation>Auckland City Hospital, Auckland, New Zealand</affiliation>
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<name type="personal">
<namePart type="given">I.</namePart>
<namePart type="family">Bissett</namePart>
<affiliation>Auckland City Hospital, Auckland, New Zealand</affiliation>
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<name type="personal">
<namePart type="given">M.</namePart>
<namePart type="family">Hulme‐Moir</namePart>
<affiliation>Auckland City Hospital, Auckland, New Zealand</affiliation>
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<abstract lang="en">Recently, in Australasia, a plea to screen all young patients with colorectal cancer (CRC) for Lynch syndrome has been advanced1. Since 2001 the three public hospitals in Auckland have had the policy of undertaking immunohistochemical (IHC) testing on the tumours of patients aged 50 years and under to detect loss of expression (LOE) of protein products for the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Purpose:   To determine (1) the completeness of patient capture, (2) the incidence of LOE by IHC of the 4 gene proteins, and (3) to correlate IHC results with those of subsequent genetic testing for the corresponding germline mutations. Methodology:   Retrospective review of the prospectively gathered clinical, pathological, and genetic records of all patients diagnosed with CRC aged 50 years and below between January 2001 and December 2007. Results:   244 patients aged 50 years or below with CRC were diagnosed in this period. 212 (86.9%) patients’ tumours underwent IHC, 147 of which had all 4 gene products studied. 30 (14.2%) tumours had LOE for one or more MMR proteins. 25/30 patients were offered genetic testing of whom 3 declined. So far 8 out of 16 patients tested have a confirmed germline mutation. Only 3/8 patients report a family history of CRC. Conclusion:   Tumour IHC reveals LOE for one of the four MMR gene proteins in approximately 14% of young patients developing CRC and in half subsequent genetic testing will identify Lynch syndrome. A policy of mandatory testing is confirmed but audit of performance and appropriate referral is required.</abstract>
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<identifier type="DOI">10.1111/(ISSN)1445-2197</identifier>
<identifier type="PublisherID">ANS</identifier>
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<date>2009</date>
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<title>Abstracts of the Royal Australasian College of Surgeons Annual Scientific Congress, 6–9 May 2009, Brisbane, Queensland, Australia</title>
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