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Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neopla는

 Borahm Kim  ;  Hyeonah Lee  ;  Jieun Jang  ;  Soo-Jeong Kim  ;  Seung-Tae Lee  ;  June-Won Cheong  ;  Chuhl Joo Lyu  ;  Yoo Hong Min  ;  Jong Rak Choi 
 PLOS ONE, Vol.14(3) : e0212228, 2019 
Journal Title
Issue Date
The 2016 World Health Organization classification introduced a number of genes with somatic mutations and a category for germline predisposition syndromes in myeloid neoplasms. We have designed a comprehensive next-generation sequencing assay to detect somatic mutations, translocations, and germline mutations in a single assay and have evaluated its clinical utility in patients with myeloid neoplasms. Extensive and specified bioinformatics analyses were undertaken to detect single nucleotide variations, FLT3 internal tandem duplication, genic copy number variations, and chromosomal copy number variations. This enabled us to maximize the clinical utility of the assay, and we concluded that, as a single assay, it can be a good supplement for many conventional tests, including Sanger sequencing, RT-PCR, and cytogenetics. Of note, we found that 8.4-11.6% of patients with acute myeloid leukemia and 12.9% of patients with myeloproliferative neoplasms had germline mutations, and most were heterozygous carriers for autosomal recessive marrow failure syndromes. These patients often did not respond to standard chemotherapy, suggesting that germline predisposition may have distinct and significant clinical implications.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Borahm(김보람) ORCID logo https://orcid.org/0000-0003-0923-7744
Kim, Soo Jeong(김수정) ORCID logo https://orcid.org/0000-0001-8859-3573
Min, Yoo Hong(민유홍) ORCID logo https://orcid.org/0000-0001-8542-9583
Lyu, Chuhl Joo(유철주) ORCID logo https://orcid.org/0000-0001-7124-7818
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Jang, Ji Eun(장지은) ORCID logo https://orcid.org/0000-0001-8832-1412
Cheong, June-Won(정준원) ORCID logo https://orcid.org/0000-0002-1744-0921
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
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