J Lab Med Qual Assur 2019; 41(4): 220-224
Published online December 31, 2019
Copyright © Korean Association of External Quality Assessment Service.
Jinyoung Hong1, Hyunki Kim1, Yong Sang Hong2, Woochang Lee1, Seok-Byung Lim3, Jeong-Sik Byeon4, Sail Chun1, and Won-Ki Min1
Departments of 1Laboratory Medicine, 2Oncology, 3Surgery, and 4Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Correspondence to:Woochang Lee
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea
Tel: +82-2-3010-4506 Fax: +82-2-478-0884 E-mail: email@example.com
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
A 26-year-old man underwent colonoscopy to investigate weight loss and a lesion suspi- cious of colorectal cancer was detected. He had a family history of colorectal cancer and hepatocellular carcinoma. The biopsy result of the lesion showed a well-differentiated adeno- carcinoma of the sigmoid colon and he underwent curative anterior resection of the colon. A microsatellite instability (MSI) test was performed on the resected tumor tissue specimen and it was found to be MSI-high. A next-generation sequencing (NGS)-based hereditary tumor panel test was performed on his peripheral blood to detect the causative germline variant. Neither a pathogenic variant nor a variant of uncertain significance was found in the single nucleotide variant (SNV) and small indel variant analyses. However, a copy number variation (CNV) detection algorithm identified a variant compatible with the deletion of exon 7 to exon 19 of the
Keywords: DNA copy number variation, MLH1, Next-generation sequencing
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