scholarly journals Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients

2016 ◽  
Vol 40 (6) ◽  
pp. 770-776 ◽  
Author(s):  
Aya Kato ◽  
Naoki Sato ◽  
Tae Sugawara ◽  
Kazue Takahashi ◽  
Masahiko Kito ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Promoter Hypermethylation ◽  
Immunohistochemical Expression ◽  
Mlh1 Promoter

scholarly journals Cost-Effectiveness of the Manchester Approach to Identifying Lynch Syndrome in Women with Endometrial Cancer

2020 ◽  
Vol 9 (6) ◽  
pp. 1664 ◽  
Author(s):  
Tristan M. Snowsill ◽  
Neil A. J. Ryan ◽  
Emma J. Crosbie
Keyword(s):  
Endometrial Cancer ◽  
Cost Effectiveness ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Cost Effective ◽  
Hereditary Cancer Syndrome ◽  
Cancer Syndrome ◽  
Universal Testing ◽  
Life Years

Lynch syndrome (LS) is a hereditary cancer syndrome responsible for 3% of all endometrial cancer and 5% in those aged under 70 years. It is unclear whether universal testing for LS in endometrial cancer patients would be cost-effective. The Manchester approach to identifying LS in endometrial cancer patients uses immunohistochemistry (IHC) to detect mismatch repair (MMR) deficiency, incorporates testing for MLH1 promoter hypermethylation, and incorporates genetic testing for pathogenic MMR variants. We aimed to assess the cost-effectiveness of the Manchester approach on the basis of primary research data from clinical practice in Manchester. The Proportion of Endometrial Tumours Associated with Lynch Syndrome (PETALS) study informed estimates of diagnostic performances for a number of different strategies. A recent microcosting study was adapted and was used to estimate diagnostic costs. A Markov model was used to predict long-term costs and health outcomes (measured in quality-adjusted life years, QALYs) for individuals and their relatives. Bootstrapping and probabilistic sensitivity analysis were used to estimate the uncertainty in cost-effectiveness. The Manchester approach dominated other reflex testing strategies when considering diagnostic costs and Lynch syndrome cases identified. When considering long-term costs and QALYs the Manchester approach was the optimal strategy, costing £5459 per QALY gained (compared to thresholds of £20,000 to £30,000 per QALY commonly used in the National Health Service (NHS)). Cost-effectiveness is not an argument for restricting testing to younger patients or those with a strong family history. Universal testing for Lynch syndrome in endometrial cancer patients is expected to be cost-effective in the U.K. (NHS), and the Manchester approach is expected to be the optimal testing strategy.

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age

2016 ◽  
Vol 143 (3) ◽  
pp. 453-459 ◽  
Author(s):  
Anne Goverde ◽  
Manon CW Spaander ◽  
Helena C van Doorn ◽  
Hendrikus J Dubbink ◽  
Ans MW van den Ouweland ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Cost Effectiveness ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Routine Screening

scholarly journals Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

2007 ◽  
Vol 67 (19) ◽  
pp. 9603-9603 ◽  
Author(s):  
Heather Hampel ◽  
Jenny Panescu ◽  
Janet Lockman ◽  
Kaisa Sotamaa ◽  
Daniel Fix ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

scholarly journals Screening for Lynch syndrome among endometrial cancer patients less than 60 years

2016 ◽  
Vol 27 ◽  
pp. vi305
Author(s):  
E. Aguirre ◽  
M. Mele ◽  
N. Tuset ◽  
A. Velasco ◽  
J. Tarragona ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients

Hypermethylation testing to identify Lynch Syndrome in endometrial cancer patients: Is it worth it?

2019 ◽  
Vol 153 (3) ◽  
pp. e8
Author(s):  
K. Tyrie ◽  
L. Drury ◽  
K. Dumas ◽  
L. Amacker-North ◽  
K. Warsinske ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients

A population-based study to evaluate SGO criteria for the identification of Lynch syndrome among endometrial cancer patients

2013 ◽  
Vol 130 (1) ◽  
pp. e28
Author(s):  
A. Bruegl ◽  
B. Djordjevic ◽  
B. Fellman ◽  
D. Urbauer ◽  
R. Luthra ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Population Based ◽  
Population Based Study

scholarly journals Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients

2006 ◽  
Vol 66 (15) ◽  
pp. 7810-7817 ◽  
Author(s):  
Heather Hampel ◽  
Wendy Frankel ◽  
Jenny Panescu ◽  
Janet Lockman ◽  
Kaisa Sotamaa ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Endometrial Cancer ◽  
Lynch Syndrome ◽  
Cancer Patients ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Hereditary Nonpolyposis

Prevalence and clinicopathologic features of hereditary nonpolyposis colorectal cancer (HNPCC) syndrome in Chinese American patients in south Brooklyn, New York.

2014 ◽  
Vol 32 (3_suppl) ◽  
pp. 441-441
Author(s):  
Ying-Yi Xiao ◽  
Yan Yu Sun ◽  
Jatin Karsandas Desani ◽  
Bradley Clark ◽  
Khin Than Win ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
New York ◽  
Colon Cancer ◽  
Dna Sequencing ◽  
Cancer Patients ◽  
Chinese Americans ◽  
Promoter Hypermethylation ◽  
Mlh1 Promoter ◽  
Asian Patients ◽  
Mmr Deficiency

441 Background: HNPCC is a hereditary disorder that predisposes to colorectal and other cancers before 50 years old and in multiple generations, with a prevalence of 2 to 5% in Caucasians. It is associated with mutations in DNA mismatch repair genes (MMR). The gold standard for diagnosis is genomic DNA sequencing. Immunohistochemical staining (IHC) is sensitive to predict but not diagnostic for HNPCC, as acquired hypermethylation of MLH1 promoter can present with negative IHC staining. We aimed to study the prevalence and clinicopathological features of HNPCC in Asian patients. Methods: IHC for 4 MMR protein expressions on tumor specimens, commercial MLH1 methylation studies and genomic sequencings were performed on eligible and selected patients diagnosed of colon, gastric or endometrial cancers. Results: 117 patients were identified (2000 to 2012), 55 M and 62 F, ranges from 23 to 92 years old. Seven cases of MMR deficiency were found: 5 with colon cancer (81 patients), 2 with gastric cancer (31 patients) and 0 with endometrial cancer (5 patients). Among the 81 colon cancer patients, 20 had cancer younger than 50 years old; and among them, 3 cases of MMR deficiency were confirmed by DNA sequencing. One patient was found to have a unique previously unreported suspected deleterious mutation. The other 2 patients had MLH1 promoter hypermethylation indicating acquired abnormality. 31 patients had gastric cancer, and 2 cases of MMR deficiency were found, including 1 MLH1 promoter hypermethylation and another isolated PMS2 deficiency by IHC. Conclusions: The prevalence of HNPCC in Chinese colon cancer patients in South Brooklyn is 3.7% (3/81). All cases were found in patients younger than 50 years old with a prevalence of 15% (3/20). Hypermethylation in MLH1 can be seen in both colon and gastric cancers. The screening in Chinese Americans for HNPCC is as important as in Caucasian population, and should be done also in Asian gastric cancer patients as well.

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