Reflex microsatellite instability & immunohistochemistry testing practices & follow-up of abnormal results at U.S. cancer programs

نویسندگان

  • Laura C Beamer
  • Marcia Grant
  • Deborah J MacDonald
  • Heather Hampel
  • Kathleen Blazer
  • Carin Huizenga
  • Jeffrey N Weitzel
چکیده

Background Abnormal results of microsatellite instability (MSI) or immunohistochemistry (IHC) testing of colorectal (CRC) tumors may suggest the presence of Lynch Syndrome (LS), a hereditary cause of CRC. Individuals with LS are at high risk for second primary cancers. Abnormal results of MSI and IHC testing influence care decisions. MSI is also a prognostic marker. The purpose of this survey-based study is to determine the current MSI and IHC testing practices and subsequent follow-up of abnormal results in U.S. cancer programs. The study aims include to: 1) explore the practice of MSI/IHC testing based on type of cancer program and the number of CRC cases accessioned during 2009 and 2) identifying the process and factors associated with follow-up of abnormal results. Routine MSI and IHC testing of CRC tumors is an emerging practice in the U.S. To date, no published studies were found that describe the practice of reflex testing for MSI and IHC abnormalities on colorectal tumors in the U.S.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Survey of HNPCC Management Analysis of Responses from 18 International Cancer Centres

Eighteen international cancer centres responded to a questionnaire designed to determine clinic practices regarding the management of Hereditary Non-Polyposis Colorectal Cancer (HNPCC). Areas covered include definition, clinical intakes, pre-genetic testing for microsatellite instability (MSI) or expression of mismatch repair (MMR) genes by immunohistochemistry (IHC), mutational analysis, conse...

متن کامل

Population-based screening for Lynch syndrome in Western Australia.

We showed earlier that routine screening for microsatellite instability (MSI) and loss of mismatch repair (MMR) protein expression in colorectal cancer (CRC) led to the identification of previously unrecognized cases of Lynch syndrome (LS). We report here the results of screening for LS in Western Australia (WA) during 1994-2012. Immunohistochemistry (IHC) for loss of MMR protein expression was...

متن کامل

سه موتاسیون ژرم لاین جدید در ژن MLH1 در بیماران مبتلا به سرطان کولورکتال ارثی

Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...

متن کامل

Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis

AIM To determine a cost-efficient strategy for HNPCC molecular diagnostic testing. METHODS 138 families referred to a Regional Genetics Service had hMLH1 and hMSH2 mutation analysis. The sensitivity and specificity of clinical selection criteria with or without immunohistochemistry (IHC) and microsatellite instability (MSI) analysis to further refine case selection and the effect of these app...

متن کامل

Identifying Lynch syndrome in patients with endometrial carcinoma: shortcomings of morphologic and clinical schemas.

It has been suggested that reflex testing for Lynch syndrome (LS) using mismatch repair immunohistochemistry and/or microsatellite instability analysis in newly diagnosed colorectal carcinoma (CRC) patients is an emerging standard of care in the United States. The risk of gynecologic malignancy in women with LS approaches and even exceeds that of CRC. Furthermore, gynecologic malignancies are o...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 9  شماره 

صفحات  -

تاریخ انتشار 2011