lunes, 8 de septiembre de 2014

Equality in Lynch Syndrome Screening: Why Should We Hold Patients With Endometrial Cancer to a Different Standard?

Equality in Lynch Syndrome Screening: Why Should We Hold Patients With Endometrial Cancer to a Different Standard?

Equality in Lynch Syndrome Screening: Why Should We Hold Patients With Endometrial Cancer to a Different Standard?

  1. Jessica Moline
  1. Genomic Medicine Institute; Lerner Research Institute; and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio
  1. Charis Eng
+Author Affiliations
  1. Genomic Medicine Institute; Lerner Research Institute; Taussig Cancer Institute; Stanley Shalom Zielony Institute of Nursing Excellence, Cleveland Clinic; and Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio
  1. Corresponding author: Charis Eng, MD, PhD, Cleveland Clinic, 9500 Euclid Ave, NE50, Cleveland, OH 44195; e-mail:

To the Editor:

In their recently published study, Buchanan et al1 proposed a population screening strategy for the identification of Lynch syndrome in patients with endometrial cancer. In their algorithm, they showed a cost savings benefit with the addition of MLH1promoter methylation for tumors demonstrating a lack of MLH1/PMS2 expression. We agree that methylation testing is cost-effective and a necessary step in triaging patients for genetic counseling and genetic testing. However, the authors also determined that screening for women diagnosed before age 60 years optimizes identification of Lynch syndrome. We would like to comment on the pitfalls of using age as a screening criterion in the clinical setting.
In this study cohort, only three of 22 women (14%) with pathogenic mismatch repair mutations were older than age 60 years at the time of diagnosis.1 This proportion is significantly lower than in other population-based studies. Hampel et al2,3 found five of 13 women (38%) with Lynch syndrome were diagnosed after age 60 years. In a study by Leenen et al,4 three of seven women with germline mutations (43%) were older than age 60 years. The inherent bias in the present study has likely skewed the final cost per carrier in this population.
As we have shown, the clinical practice of implementing tumor screening for Lynch syndrome differs from research practices.5 In our 3 years of screening on the basis of age and molecular characteristics, 27 eligible patients were overlooked by pathologists for screening. Using a universal screening approach, no patients were missed. Eliminating a step from the pathologists' workflow to determine if a patient meets screening criteria cuts down on the chance for error and streamlines processes.
We also raise this question: why should we place stringent criteria on screening for endometrial cancers when universal screening for colon cancers is widely accepted? In a multicenter analysis of universal tumor screening in colorectal cancer, 26 of 82 individuals (32%) with Lynch syndrome were diagnosed after age 60 years.6 If we look at published data for endometrial cancer, we see relatively the same age distribution (38% to 42% of patients diagnosed after age 60 years).2,4 Just as many, if not more, women with Lynch syndrome are diagnosed with endometrial cancer compared with colorectal cancer. If the goal of population tumor screening is to identify individuals with Lynch syndrome, then it seems clear that all endometrial and all colorectal cancers should be screened equally.


Although all authors completed the disclosure declaration, the following author(s) and/or an author's immediate family member(s) indicated a financial or other interest that is relevant to the subject matter under consideration in this article. Certain relationships marked with a “U” are those for which no compensation was received; those relationships marked with a “C” were compensated. For a detailed description of the disclosure categories, or for more information about ASCO's conflict of interest policy, please refer to the Author Disclosure Declaration and the Disclosures of Potential Conflicts of Interest section in Information for Contributors.
Employment or Leadership Position: None Consultant or Advisory Role: Charis Eng, GenomOncology (U), EcoEos (U), N-of-One (C), Medical Mutual of Ohio (C), CareSource (C) Stock Ownership: None Honoraria: None Research Funding:None Expert Testimony: None Patents, Royalties, and Licenses: None Other Remuneration: None


C.E. is the Sondra J. and Stephen R. Hardis Chair of Cancer Genomic Medicine at the Cleveland Clinic and is an American Cancer Society Clinical Research Professor, generously funded, in part, by the F.M. Kirby Foundation.


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