Journal of Hereditary Tumors
Online ISSN : 2435-6808
Clinical Experience
Clinical evaluation of colorectal cancer patients who underwent MSI analysis for Lynch syndrome
Hiroyuki Ohta Tomoharu ShimizuToru MiyakeTomoyuki UekiMasatsugu KojimaYuki KawaiHiromichi SonodaHiroya AkaboriNaomi KitamuraByonggu AnYumi ZenEiji MekataMasaji Tani
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JOURNAL OPEN ACCESS

2020 Volume 20 Issue 3 Pages 151-155

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Abstract

Object: To elucidate the clinical features of colorectal cancer patients who underwent MSI analysis for the purpose of Lynch syndrome screening.

Methods: Retrospectively, the medical records of 31 colorectal cancer patients who fulfilled the revised Bethesda guidelines and underwent tumor microsatellite instability (MSI) analysis were reviewed.

Results: Of 5 items of the revised Bethesda guidelines, the most frequent was “colorectal cancer diagnosed in a patient who is less than 50 years of age”, which was fulfilled by 16 patients. The second most frequent item was the “presence of synchronous, metachronous colorectal, or other Lynch syndrome-associated tumors, regardless of age”, which was fulfilled by 15 patients. Eight patients (25.8%) had MSI-high tumors and 23 had MSS.

Conclusion: Lynch syndrome is highly related to the family history and associated tumors; therefore, the establishment of genetic counselling and a medical treatment system for hereditary tumors across clinical departments is a present issue.

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© 2020 The Japanese Society for Hereditary Tumors
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